Variant report

Variant	nsv590209
Chromosome Location	chr3:47018214-47050784
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2471)
CpG islands
(count:2014)
Chromatin interactive
region (count:64)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2471 , 50 per page) page: 1 2 3 4 5 6 7 ... 50

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr3:47018055-47018701	K562	blood:	n/a	chr3:47018134-47018149
2	ARID3A	chr3:47017773-47018679	HepG2	liver:	n/a	chr3:47018134-47018149
3	ARID3A	chr3:47028761-47029511	K562	blood:	n/a	n/a
4	ATF2	chr3:47040010-47040285	GM12878	blood:	n/a	n/a
5	ATF2	chr3:47029129-47029664	GM12878	blood:	n/a	n/a
6	ATF2	chr3:47021001-47021415	GM12878	blood:	n/a	n/a
7	ATF2	chr3:47017579-47018341	GM12878	blood:	n/a	n/a
8	ATF2	chr3:47032085-47032561	GM12878	blood:	n/a	n/a
9	ATF2	chr3:47044002-47044388	H1-hESC	embryonic stem cell:	n/a	n/a
10	ATF2	chr3:47031958-47032521	GM12878	blood:	n/a	n/a
11	ATF2	chr3:47023487-47023895	H1-hESC	embryonic stem cell:	n/a	n/a
12	ATF2	chr3:47039884-47040376	H1-hESC	embryonic stem cell:	n/a	n/a
13	ATF2	chr3:47029272-47029645	GM12878	blood:	n/a	n/a
14	ATF2	chr3:47023464-47023967	H1-hESC	embryonic stem cell:	n/a	n/a
15	ATF3	chr3:47018451-47018714	K562	blood:	n/a	n/a
16	ATF3	chr3:47017591-47018326	K562	blood:	n/a	n/a
17	ATF3	chr3:47017684-47018276	A549	lung:	n/a	n/a
18	ATF3	chr3:47017621-47018251	K562	blood:	n/a	n/a
19	ATF3	chr3:47017694-47018254	A549	lung:	n/a	n/a
20	ATF3	chr3:47017776-47018221	GM12878	blood:	n/a	n/a
21	ATF3	chr3:47018397-47018729	K562	blood:	n/a	n/a
22	BACH1	chr3:47040121-47040344	H1-hESC	embryonic stem cell:	n/a	n/a
23	BACH1	chr3:47017744-47018808	H1-hESC	embryonic stem cell:	n/a	chr3:47018619-47018633
24	BACH1	chr3:47029189-47029800	K562	blood:	n/a	n/a
25	BACH1	chr3:47018420-47018726	K562	blood:	n/a	chr3:47018619-47018633
26	BACH1	chr3:47029176-47029622	H1-hESC	embryonic stem cell:	n/a	n/a
27	BCL11A	chr3:47029279-47029609	GM12878	blood:	n/a	n/a
28	BCL11A	chr3:47032047-47032449	GM12878	blood:	n/a	chr3:47032387-47032396
29	BCL11A	chr3:47032079-47032351	GM12878	blood:	n/a	n/a
30	BCL11A	chr3:47029270-47029509	GM12878	blood:	n/a	n/a
31	BCL3	chr3:47050764-47051326	GM12878	blood:	n/a	n/a
32	BCL3	chr3:47020907-47021426	GM12878	blood:	n/a	chr3:47021231-47021244 chr3:47021107-47021116 chr3:47021139-47021152 chr3:47021238-47021247 chr3:47021296-47021305 chr3:47021016-47021029 chr3:47021194-47021203 chr3:47021037-47021050 chr3:47021289-47021302
33	BCL3	chr3:47031933-47032468	GM12878	blood:	n/a	chr3:47032387-47032396
34	BCL3	chr3:47031990-47032364	GM12878	blood:	n/a	n/a
35	BCLAF1	chr3:47029205-47029661	GM12878	blood:	n/a	n/a
36	BCLAF1	chr3:47020831-47021453	GM12878	blood:	n/a	chr3:47021231-47021244 chr3:47021107-47021116 chr3:47021139-47021152 chr3:47021238-47021247 chr3:47021296-47021305 chr3:47021016-47021029 chr3:47020873-47020882 chr3:47021194-47021203 chr3:47021037-47021050 chr3:47021289-47021302
37	BCLAF1	chr3:47018384-47018656	GM12878	blood:	n/a	n/a
38	BCLAF1	chr3:47040006-47040448	GM12878	blood:	n/a	n/a
39	BCLAF1	chr3:47020811-47021425	GM12878	blood:	n/a	chr3:47021231-47021244 chr3:47021107-47021116 chr3:47021139-47021152 chr3:47021238-47021247 chr3:47021296-47021305 chr3:47021016-47021029 chr3:47020873-47020882 chr3:47021194-47021203 chr3:47021037-47021050 chr3:47021289-47021302
40	BHLHE40	chr3:47032006-47032502	GM12878	blood:	n/a	n/a
41	BHLHE40	chr3:47020699-47021652	K562	blood:	n/a	n/a
42	BHLHE40	chr3:47029273-47029601	GM12878	blood:	n/a	n/a
43	BHLHE40	chr3:47026677-47026808	K562	blood:	n/a	n/a
44	BHLHE40	chr3:47017672-47018728	K562	blood:	n/a	n/a
45	BHLHE40	chr3:47017709-47018626	GM12878	blood:	n/a	n/a
46	BHLHE40	chr3:47020892-47021819	GM12878	blood:	n/a	n/a
47	BHLHE40	chr3:47028714-47029689	K562	blood:	n/a	n/a
48	BHLHE40	chr3:47040073-47040346	K562	blood:	n/a	n/a
49	BRCA1	chr3:47017951-47018241	HepG2	liver:	n/a	n/a
50	BRCA1	chr3:47029500-47029638	GM12878	blood:	n/a	n/a

(count:2014 , 50 per page) page: 1 2 3 4 5 6 7 ... 41

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:47040357-47040407	GM12892	blood:	n/a
2	chr3:47040357-47040407	GM12892	blood:	n/a
3	chr3:47045571-47045621	HRE	kidney:	n/a
4	chr3:47029475-47029525	SKMC	muscle:	n/a
5	chr3:47020867-47020917	RPTEC	kidney:	n/a
6	chr3:47020919-47020969	SAEC	small airway:	n/a
7	chr3:47021211-47021261	T-47D	breast:	n/a
8	chr3:47018194-47018244	H1-hESC	embryonic stem cell:	embryo
9	chr3:47043996-47044046	HCM	heart:	n/a
10	chr3:47018657-47018707	HCM	heart:	n/a
11	chr3:47020805-47020855	GM06990	blood:	n/a
12	chr3:47023603-47023653	ovcar-3	ovarian:	n/a
13	chr3:47018402-47018452	HCPEpiC	choroid plexus:	n/a
14	chr3:47020191-47020241	HEK293	kidney:	embryo
15	chr3:47021148-47021198	NHDF-neo	bronchial:	n/a
16	chr3:47018377-47018427	Caco-2	colon:	n/a
17	chr3:47020973-47021023	HRE	kidney:	n/a
18	chr3:47021396-47021446	H1-hESC	embryonic stem cell:	embryo
19	chr3:47043996-47044046	CMK	blood:	n/a
20	chr3:47018657-47018707	Caco-2	colon:	n/a
21	chr3:47018657-47018707	CMK	blood:	n/a
22	chr3:47021126-47021176	Hepatocyte	liver:	n/a
23	chr3:47045571-47045621	GM19239	blood:	n/a
24	chr3:47018657-47018707	HPAEpiC	pulmonary alveolar:	n/a
25	chr3:47020919-47020969	HCPEpiC	choroid plexus:	n/a
26	chr3:47020191-47020241	HPAEpiC	pulmonary alveolar:	n/a
27	chr3:47018377-47018427	SK-N-MC	brain:	n/a
28	chr3:47018686-47018736	HUVEC	blood vessel:	n/a
29	chr3:47029335-47029385	A549	lung:	n/a
30	chr3:47047474-47047524	ovcar-3	ovarian:	n/a
31	chr3:47018296-47018346	T-47D	breast:	n/a
32	chr3:47021396-47021446	U87	brain:	n/a
33	chr3:47043996-47044046	HCF	heart:	n/a
34	chr3:47018657-47018707	Hela-S3	cervix:	n/a
35	chr3:47020919-47020969	HNPCEpiC	eye:	n/a
36	chr3:47020760-47020810	HRPEpiC	eye:	n/a
37	chr3:47045571-47045621	BE2_C	brain:	n/a
38	chr3:47021148-47021198	CMK	blood:	n/a
39	chr3:47021211-47021261	GM06990	blood:	n/a
40	chr3:47020867-47020917	HMEC	breast:	n/a
41	chr3:47023603-47023653	HIPEpiC	eye:	n/a
42	chr3:47018482-47018532	SKMC	muscle:	n/a
43	chr3:47018194-47018244	HUVEC	blood vessel:	n/a
44	chr3:47040214-47040264	SKMC	muscle:	n/a
45	chr3:47021126-47021176	SK-N-SH	brain:	n/a
46	chr3:47018294-47018344	Hepatocyte	liver:	n/a
47	chr3:47018194-47018244	MCF10A-Er-Src	breast:	n/a
48	chr3:47018377-47018427	LNCaP	prostate:	n/a
49	chr3:47018194-47018244	AG09319	gingival:	n/a
50	chr3:47020760-47020810	ECC-1	luminal epithelium:	n/a

(count:64 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr3:47047075..47049174-chr3:47204688..47207568,2	K562	blood:
2	chr3:46964473..46965839-chr3:47039359..47040629,17	MCF-7	breast:
3	chr3:47042301..47045391-chr3:47048299..47050590,3	MCF-7	breast:
4	chr3:46760704..46762742-chr3:47031242..47033337,2	K562	blood:
5	chr3:47039779..47040407-chr3:47050513..47051136,2	MCF-7	breast:
6	chr3:46964655..46965958-chr3:47039692..47040743,10	K562	blood:
7	chr3:47039305..47042049-chr3:47322741..47325058,3	K562	blood:
8	chr3:47019689..47022693-chr3:47040941..47043835,3	MCF-7	breast:
9	chr3:47030302..47032309-chr3:47043809..47045425,2	MCF-7	breast:
10	chr1:43824305..43825100-chr3:47017661..47018277,2	Hela-S3	cervix:
11	chr3:47029851..47036778-chr3:47036995..47040214,6	MCF-7	breast:
12	chr2:75185461..75186274-chr3:47021175..47021935,2	Hela-S3	cervix:
13	chr3:47019697..47022640-chr3:47324324..47326151,2	K562	blood:
14	chr3:46966646..46969252-chr3:47031389..47034280,2	MCF-7	breast:
15	chr20:60877857..60878360-chr3:47037133..47037707,2	Hela-S3	cervix:
16	chr3:47030302..47032309-chr3:47043809..47045425,2	MCF-7	breast:
17	chr3:47047312..47050228-chr3:47050509..47055807,4	MCF-7	breast:
18	chr3:46967003..46969518-chr3:47029296..47031281,2	K562	blood:
19	chr3:46949955..46951552-chr3:47027591..47029507,2	K562	blood:
20	chr3:47042301..47045391-chr3:47048299..47050590,3	MCF-7	breast:
21	chr3:47026019..47028000-chr3:47321803..47324300,2	K562	blood:
22	chr3:46746385..46747067-chr3:47040079..47041127,4	K562	blood:
23	chr3:47028266..47031256-chr3:47034300..47036067,3	MCF-7	breast:
24	chr3:47020574..47023054-chr3:47051075..47053218,2	MCF-7	breast:
25	chr3:47047312..47050228-chr3:47050509..47055807,4	MCF-7	breast:
26	chr3:46949254..46951552-chr3:47027591..47030154,3	K562	blood:
27	chr3:46976166..46978368-chr3:47023917..47025847,2	MCF-7	breast:
28	chr17:41464193..41465701-chr3:47050147..47051667,2	K562	blood:
29	chr3:47019689..47022693-chr3:47040941..47043835,3	MCF-7	breast:
30	chr3:46953705..46956072-chr3:47026187..47029077,2	K562	blood:
31	chr3:47029851..47036778-chr3:47036995..47040214,6	MCF-7	breast:
32	chr3:46987136..46991583-chr3:47027983..47031367,6	K562	blood:
33	chr3:46975931..46978927-chr3:47032747..47034555,2	K562	blood:
34	chr3:47016641..47019456-chr3:47138519..47140806,2	K562	blood:
35	chr3:46951368..46952262-chr3:47039779..47040735,3	K562	blood:
36	chr3:47039779..47040407-chr3:47050513..47051136,2	MCF-7	breast:
37	chr3:46929621..46931545-chr3:47041151..47042840,2	K562	blood:
38	chr3:47019120..47020713-chr3:47422216..47424593,2	K562	blood:
39	chr3:46964881..46965821-chr3:47039447..47041043,9	MCF-7	breast:
40	chr3:46988383..46991103-chr3:47025292..47027507,2	MCF-7	breast:
41	chr3:47016936..47018509-chr3:47322606..47324747,2	K562	blood:
42	chr3:47038738..47041744-chr3:47049789..47052323,3	MCF-7	breast:
43	chr3:46975644..46977508-chr3:47038452..47040651,2	K562	blood:
44	chr3:46974856..46983636-chr3:47025231..47032249,9	K562	blood:
45	chr3:47038738..47041744-chr3:47049789..47052323,3	MCF-7	breast:
46	chr3:46943427..46945149-chr3:47026537..47029447,2	K562	blood:
47	chr3:47046288..47049439-chr3:47049485..47051071,3	MCF-7	breast:
48	chr3:47037691..47040189-chr3:47420845..47422375,2	K562	blood:
49	chr3:46964872..46965611-chr3:47030738..47031577,2	MCF-7	breast:
50	chr3:46956820..46959404-chr3:47037411..47039002,2	K562	blood:

No data

Variant related genes	Relation type
NRADDP	TF binding region
CCDC12	TF binding region
NBEAL2	TF binding region
NRADDP	CpG island
CCDC12	CpG island
NBEAL2	CpG island
ENSG00000160799	chromatin interactions
ENSG00000130706	chromatin interactions
ENSG00000114648	chromatin interactions
ENSG00000260236	chromatin interactions
ENSG00000181555	chromatin interactions
ENSG00000133316	chromatin interactions
ENSG00000268537	chromatin interactions
ENSG00000088727	chromatin interactions
ENSG00000227398	chromatin interactions
ENSG00000160796	chromatin interactions
ENSG00000188825	chromatin interactions
ENSG00000117399	chromatin interactions
ENSG00000115350	chromatin interactions
ENSG00000234694	chromatin interactions
ENSG00000076201	chromatin interactions
ENSG00000160801	chromatin interactions
ENSG00000196511	chromatin interactions
ENSG00000236409	chromatin interactions

Extended variants
information (count: 1396 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:1396 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs936181	chr3:47018214-47018215	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs569272435	chr3:47018226-47018227	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
3	rs530541908	chr3:47018230-47018231	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
4	rs142757219	chr3:47018244-47018245	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
5	rs372057949	chr3:47018279-47018280	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
6	rs551880158	chr3:47018297-47018298	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
7	rs570196098	chr3:47018354-47018355	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs535261163	chr3:47018355-47018356	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs112047215	chr3:47018357-47018358	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
10	rs3749409	chr3:47018387-47018388	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs553244572	chr3:47018398-47018399	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
12	rs568746574	chr3:47018403-47018404	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
13	rs74976048	chr3:47018415-47018416	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
14	rs374924584	chr3:47018426-47018427	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
15	rs34971711	chr3:47018448-47018449	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
16	rs201667306	chr3:47018459-47018460	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
17	rs115702632	chr3:47018460-47018461	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
18	rs60779232	chr3:47018472-47018473	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
19	rs72907946	chr3:47018491-47018492	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs557414030	chr3:47018518-47018519	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs74939037	chr3:47018528-47018529	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs55727789	chr3:47018546-47018547	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs553403060	chr3:47018564-47018565	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs116534419	chr3:47018593-47018594	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs573256074	chr3:47018702-47018703	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs369759806	chr3:47018707-47018708	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs541222378	chr3:47018761-47018762	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs559240509	chr3:47018823-47018824	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs550337375	chr3:47018962-47018963	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs61340798	chr3:47018978-47018979	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs71098439	chr3:47018979-47018980	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs183450935	chr3:47019042-47019043	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs541691860	chr3:47019097-47019098	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs563220869	chr3:47019177-47019178	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
35	rs530457094	chr3:47019180-47019181	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
36	rs572313324	chr3:47019213-47019214	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
37	rs551745522	chr3:47019240-47019241	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
38	rs146290464	chr3:47019247-47019248	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
39	rs528135357	chr3:47019263-47019264	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
40	rs373489729	chr3:47019272-47019273	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
41	rs547187077	chr3:47019278-47019279	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
42	rs545951718	chr3:47019284-47019285	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
43	rs369925148	chr3:47019316-47019317	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
44	rs139529978	chr3:47019340-47019341	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
45	rs187571146	chr3:47019425-47019426	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
46	rs558311053	chr3:47019443-47019444	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
47	rs117576921	chr3:47019524-47019525	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs558135441	chr3:47019542-47019543	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs73831450	chr3:47019543-47019544	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs533999619	chr3:47019549-47019550	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:101)

Disease	PMID	Source
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
Glioblastoma multiforme	21080181	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Kartagener syndrome	16639409	CNVD
Biliary cancer	19435499	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Breast cancer	21509527	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	16397240	CNVD
Breast cancer	22032731	CNVD
Non-small cell lung cancer	20864512	CNVD
Colorectal cancer	16912164	CNVD
Non-small cell lung cancer	19010865	CNVD
Colorectal cancer	16272173	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Acute myeloid leukemia	17268525	CNVD
Salivary gland tumor	18059337	CNVD
Gastric cancer	16891809	CNVD
Night blindness	17160897	CNVD
Cancer	17160897	CNVD
Breast cancer	20409316	CNVD
Lung cancer	17297452	CNVD
Multiple myeloma	16616336	CNVD
Effusion lymphoma	18079361	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Neuroblastoma	20406844	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Urothelial cell carcinoma	18451213	CNVD
Neuroblastoma	17327916	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Melanoma	17363583	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Adrenocortical carcinoma	18281524	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Breast cancer	22522925	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:2147 , 50 per page) page: 1 2 3 4 5 6 7 ... 43

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:47016000-47018600	Active TSS	GM12878-XiMat	blood
2	chr3:47016200-47018800	Active TSS	NHLF	lung
3	chr3:47016600-47018400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr3:47016600-47018400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr3:47016600-47018400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr3:47016600-47018600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr3:47016600-47018600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr3:47016600-47018800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr3:47016600-47018800	Active TSS	HSMM	muscle
10	chr3:47016600-47019000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr3:47016600-47019000	Active TSS	A549	lung
12	chr3:47016800-47018400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr3:47016800-47018600	Active TSS	Fetal Intestine Small	intestine
14	chr3:47016800-47018600	Active TSS	Stomach Smooth Muscle	stomach
15	chr3:47016800-47018800	Active TSS	H1 Cell Line	embryonic stem cell
16	chr3:47016800-47018800	Active TSS	Muscle Satellite Cultured Cells	--
17	chr3:47016800-47018800	Active TSS	Psoas Muscle	Psoas
18	chr3:47016800-47018800	Active TSS	Rectal Mucosa Donor 29	rectum
19	chr3:47016800-47019000	Active TSS	Hela-S3	cervix
20	chr3:47017000-47018400	Active TSS	Breast Myoepithelial Primary Cells	Breast
21	chr3:47017000-47018400	Active TSS	Primary hematopoietic stem cells short term culture	blood
22	chr3:47017000-47018400	Active TSS	Placenta	Placenta
23	chr3:47017000-47018400	Active TSS	Dnd41	blood
24	chr3:47017000-47018400	Active TSS	HUVEC	blood vessel
25	chr3:47017000-47018600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr3:47017000-47018600	Active TSS	Liver	Liver
27	chr3:47017000-47018600	Active TSS	HMEC	breast
28	chr3:47017000-47018600	Active TSS	K562	blood
29	chr3:47017000-47018800	Active TSS	Right Ventricle	heart
30	chr3:47017000-47018800	Active TSS	NHEK	skin
31	chr3:47017000-47019000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr3:47017000-47019000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr3:47017200-47018400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr3:47017200-47018400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr3:47017200-47018400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
36	chr3:47017200-47018400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr3:47017200-47018400	Active TSS	Primary T helper cells PMA-I stimulated	--
38	chr3:47017200-47018400	Active TSS	Esophagus	oesophagus
39	chr3:47017200-47018400	Active TSS	Gastric	stomach
40	chr3:47017200-47018400	Active TSS	Ovary	ovary
41	chr3:47017200-47018400	Active TSS	NH-A	brain
42	chr3:47017200-47018600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr3:47017200-47018600	Active TSS	Primary T cells from cord blood	blood
44	chr3:47017200-47018600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
45	chr3:47017200-47018600	Active TSS	Primary T helper naive cells from peripheral blood	blood
46	chr3:47017200-47018600	Active TSS	Brain Hippocampus Middle	brain
47	chr3:47017200-47018600	Active TSS	Colon Smooth Muscle	Colon
48	chr3:47017200-47018600	Active TSS	Pancreatic Islets	Pancreatic Islet
49	chr3:47017200-47018600	Active TSS	Pancreas	Pancrea
50	chr3:47017200-47018600	Active TSS	Rectal Mucosa Donor 31	rectum

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