Variant report

Variant	nsv878252
Chromosome Location	chr4:669857-685993
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1451)
CpG islands
(count:2076)
Chromatin interactive
region (count:44)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1451 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr4:681027-681282	HepG2	liver:	n/a	n/a
2	ARID3A	chr4:677805-678057	HepG2	liver:	n/a	n/a
3	ATF2	chr4:669990-670459	GM12878	blood:	n/a	n/a
4	ATF2	chr4:669916-670291	GM12878	blood:	n/a	n/a
5	ATF3	chr4:681033-681383	K562	blood:	n/a	n/a
6	BACH1	chr4:674890-675090	H1-hESC	embryonic stem cell:	n/a	n/a
7	BACH1	chr4:677905-678052	H1-hESC	embryonic stem cell:	n/a	n/a
8	BACH1	chr4:682732-682942	H1-hESC	embryonic stem cell:	n/a	n/a
9	BACH1	chr4:677579-677605	H1-hESC	embryonic stem cell:	n/a	n/a
10	BACH1	chr4:681046-681419	K562	blood:	n/a	n/a
11	BACH1	chr4:683176-683181	H1-hESC	embryonic stem cell:	n/a	n/a
12	BCL3	chr4:679340-679623	GM12878	blood:	n/a	chr4:679502-679511
13	BCL3	chr4:671719-672186	GM12878	blood:	n/a	n/a
14	BCLAF1	chr4:669676-670454	GM12878	blood:	n/a	n/a
15	BHLHE40	chr4:671777-672089	GM12878	blood:	n/a	n/a
16	BHLHE40	chr4:675165-675801	HepG2	liver:	n/a	n/a
17	BHLHE40	chr4:680908-682002	K562	blood:	n/a	n/a
18	BHLHE40	chr4:675016-675393	GM12878	blood:	n/a	n/a
19	BHLHE40	chr4:669804-670628	GM12878	blood:	n/a	n/a
20	BHLHE40	chr4:678828-679130	HepG2	liver:	n/a	n/a
21	BHLHE40	chr4:677733-678055	K562	blood:	n/a	n/a
22	BHLHE40	chr4:674775-675813	K562	blood:	n/a	n/a
23	BHLHE40	chr4:680924-681586	HepG2	liver:	n/a	n/a
24	BHLHE40	chr4:677831-678024	GM12878	blood:	n/a	n/a
25	BRCA1	chr4:679913-679976	HepG2	liver:	n/a	n/a
26	BRCA1	chr4:677796-678141	HepG2	liver:	n/a	n/a
27	BRCA1	chr4:669929-670601	GM12878	blood:	n/a	n/a
28	BRCA1	chr4:680985-681321	Hela-S3	cervix:	n/a	n/a
29	BRCA1	chr4:675765-675805	HepG2	liver:	n/a	n/a
30	BRCA1	chr4:681462-681597	HepG2	liver:	n/a	n/a
31	BRCA1	chr4:677808-678015	H1-hESC	embryonic stem cell:	n/a	n/a
32	CBX3	chr4:674721-675247	K562	blood:	n/a	n/a
33	CBX3	chr4:680757-681797	K562	blood:	n/a	n/a
34	CBX3	chr4:677719-678102	K562	blood:	n/a	n/a
35	CBX3	chr4:677812-677988	K562	blood:	n/a	n/a
36	CCNT2	chr4:678664-678750	K562	blood:	n/a	n/a
37	CCNT2	chr4:675551-675973	K562	blood:	n/a	n/a
38	CCNT2	chr4:671759-671983	K562	blood:	n/a	n/a
39	CCNT2	chr4:677960-678084	K562	blood:	n/a	chr4:677965-677974 chr4:678064-678073
40	CCNT2	chr4:674783-675232	K562	blood:	n/a	chr4:675191-675200 chr4:675126-675135
41	CCNT2	chr4:680985-681534	K562	blood:	n/a	n/a
42	CEBPB	chr4:680908-681423	K562	blood:	n/a	n/a
43	CEBPB	chr4:680966-681409	K562	blood:	n/a	n/a
44	CEBPB	chr4:681041-681410	A549	lung:	n/a	n/a
45	CEBPB	chr4:680923-681472	Hela-S3	cervix:	n/a	n/a
46	CEBPB	chr4:680984-681341	MCF-7	breast:	n/a	n/a
47	CEBPB	chr4:681021-681755	HepG2	liver:	n/a	n/a
48	CEBPB	chr4:680929-681497	A549	lung:	n/a	n/a
49	CEBPB	chr4:671490-671511	HepG2	liver:	n/a	n/a
50	CEBPB	chr4:681027-681407	HepG2	liver:	n/a	n/a

(count:2076 , 50 per page) page: 1 2 3 4 5 6 7 ... 42

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:670694-670744	Hela-S3	cervix:	n/a
2	chr4:680656-680706	HCT-116	colon:	n/a
3	chr4:670694-670744	Hela-S3	cervix:	n/a
4	chr4:680656-680706	HCT-116	colon:	n/a
5	chr4:677332-677382	IMR90	lung:	fetal
6	chr4:675137-675187	HEEpiC	esophagus:	n/a
7	chr4:670694-670744	SK-N-MC	brain:	n/a
8	chr4:683060-683110	HUVEC	blood vessel:	n/a
9	chr4:671851-671901	AG10803	skin:	n/a
10	chr4:680338-680388	HRCEpiC	kidney:	n/a
11	chr4:681280-681330	BJ	skin:	n/a
12	chr4:680338-680388	CMK	blood:	n/a
13	chr4:675936-675986	HCPEpiC	choroid plexus:	n/a
14	chr4:674399-674449	GM12878	blood:	n/a
15	chr4:680114-680164	H1-hESC	embryonic stem cell:	embryo
16	chr4:679907-679957	Jurkat	blood:	n/a
17	chr4:671851-671901	IMR90	lung:	fetal
18	chr4:683060-683110	SK-N-SH_RA	brain:	n/a
19	chr4:683772-683822	NH-A	brain:	n/a
20	chr4:675827-675877	GM12892	blood:	n/a
21	chr4:674399-674449	SAEC	small airway:	n/a
22	chr4:671851-671901	HUVEC	blood vessel:	n/a
23	chr4:683772-683822	RPTEC	kidney:	n/a
24	chr4:683206-683256	HepG2	liver:	n/a
25	chr4:675936-675986	BE2_C	brain:	n/a
26	chr4:681280-681330	NHBE	bronchial:	n/a
27	chr4:682184-682234	HUVEC	blood vessel:	n/a
28	chr4:682184-682234	PFSK-1	brain:	n/a
29	chr4:670347-670397	HNPCEpiC	eye:	n/a
30	chr4:681509-681559	GM12892	blood:	n/a
31	chr4:683206-683256	SKMC	muscle:	n/a
32	chr4:678615-678665	SAEC	small airway:	n/a
33	chr4:674590-674640	GM19239	blood:	n/a
34	chr4:673816-673866	Hela-S3	cervix:	n/a
35	chr4:674399-674449	NT2-D1	testis:	n/a
36	chr4:682834-682884	U87	brain:	n/a
37	chr4:683148-683198	A549	lung:	n/a
38	chr4:671791-671841	HMEC	breast:	n/a
39	chr4:679751-679801	T-47D	breast:	n/a
40	chr4:675137-675187	AG04449	skin:	fetal
41	chr4:682834-682884	BE2_C	brain:	n/a
42	chr4:670694-670744	SKMC	muscle:	n/a
43	chr4:671543-671593	NHDF-neo	bronchial:	n/a
44	chr4:675137-675187	HRE	kidney:	n/a
45	chr4:671543-671593	BJ	skin:	n/a
46	chr4:674399-674449	AG09309	skin:	n/a
47	chr4:681086-681136	CMK	blood:	n/a
48	chr4:677332-677382	Hela-S3	cervix:	n/a
49	chr4:683772-683822	HL-60	blood:	n/a
50	chr4:675936-675986	PrEC	prostate:	n/a

(count:44 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:675798..677554-chr4:822582..825253,2	K562	blood:
2	chr4:685168..687948-chr4:720872..722966,2	K562	blood:
3	chr4:671080..676330-chr4:771868..776883,7	K562	blood:
4	chr4:658187..662144-chr4:672176..676426,5	MCF-7	breast:
5	chr4:666044..670200-chr4:772961..777371,6	K562	blood:
6	chr4:679728..681770-chr4:1339441..1342302,2	K562	blood:
7	chr4:678244..681266-chr4:735203..738855,3	MCF-7	breast:
8	chr4:681383..683193-chr4:698223..700658,3	K562	blood:
9	chr4:680242..683670-chr4:697022..701034,8	MCF-7	breast:
10	chr4:675712..677367-chr4:684331..686436,2	MCF-7	breast:
11	chr4:672624..674794-chr4:684663..687063,2	MCF-7	breast:
12	chr4:596138..597128-chr4:673282..674051,3	MCF-7	breast:
13	chr4:675536..678279-chr4:719522..721602,2	K562	blood:
14	chr4:665676..669905-chr4:679525..682855,5	K562	blood:
15	chr4:680186..682717-chr4:773971..775707,2	MCF-7	breast:
16	chr4:675556..677159-chr4:698083..699991,3	K562	blood:
17	chr4:676118..678375-chr4:722491..724316,2	K562	blood:
18	chr4:677478..678415-chr4:694566..695363,2	MCF-7	breast:
19	chr4:675173..676793-chr4:777348..779688,2	MCF-7	breast:
20	chr4:514891..517080-chr4:677730..679355,2	MCF-7	breast:
21	chr4:681693..683683-chr4:698278..699853,2	K562	blood:
22	chr16:25078320..25078827-chr4:681161..681687,2	NB4	blood:
23	chr4:684700..687240-chr4:700658..702428,2	MCF-7	breast:
24	chr4:669988..672792-chr4:681146..683044,2	K562	blood:
25	chr4:679478..681319-chr4:699446..701129,2	K562	blood:
26	chr4:666292..671732-chr4:694079..701503,8	MCF-7	breast:
27	chr4:491399..494814-chr4:670516..673656,5	K562	blood:
28	chr4:672883..676399-chr4:697081..701106,5	MCF-7	breast:
29	chr4:665676..669905-chr4:679525..682855,5	K562	blood:
30	chr4:668293..670393-chr4:1005599..1007949,2	K562	blood:
31	chr4:493062..494777-chr4:668037..670861,2	MCF-7	breast:
32	chr4:595977..599927-chr4:674651..678190,4	MCF-7	breast:
33	chr4:669988..672792-chr4:681146..683044,2	K562	blood:
34	chr4:684734..689107-chr4:696185..700611,4	MCF-7	breast:
35	chr4:685366..688293-chr4:699391..702388,2	K562	blood:
36	chr4:676665..678660-chr4:1340906..1343880,2	MCF-7	breast:
37	chr4:679737..681440-chr4:774148..776582,2	K562	blood:
38	chr4:681142..683138-chr4:683907..688353,5	MCF-7	breast:
39	chr4:646528..649301-chr4:675021..676814,2	MCF-7	breast:
40	chr4:648535..651226-chr4:685340..688020,2	MCF-7	breast:
41	chr4:666295..671517-chr4:698228..703248,8	MCF-7	breast:
42	chr4:675712..677367-chr4:684331..686436,2	MCF-7	breast:
43	chr4:674880..677107-chr4:756612..759495,2	MCF-7	breast:
44	chr4:680689..682702-chr4:985061..987897,2	K562	blood:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PDE6B-2	chr4:669862-670270	NONHSAT094600
2	lnc-ATP5I-3	chr4:675619-676147	NONHSAT094601
3	lnc-PDE6B-2	chr4:668129-671710	NONHSAT094599

No data

Variant related genes	Relation type
MYL5	TF binding region
MFSD7	TF binding region
ATP5I	TF binding region
MYL5	CpG island
MFSD7	CpG island
ATP5I	CpG island
ENSG00000145217	chromatin interactions
ENSG00000215375	chromatin interactions
ENSG00000169026	chromatin interactions
ENSG00000233799	chromatin interactions
ENSG00000169020	chromatin interactions
ENSG00000249592	chromatin interactions
ENSG00000185619	chromatin interactions
ENSG00000163945	chromatin interactions
ENSG00000133256	chromatin interactions
ENSG00000127415	chromatin interactions
ENSG00000182903	chromatin interactions
ENSG00000242686	chromatin interactions
ENSG00000127418	chromatin interactions
ENSG00000174227	chromatin interactions

Extended variants
information (count: 961 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:961 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs28484925	chr4:669857-669858	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs73058420	chr4:669904-669905	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
3	rs183686521	chr4:669949-669950	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
4	rs141193220	chr4:669961-669962	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
5	rs528817505	chr4:669973-669974	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
6	rs574661872	chr4:669979-669980	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
7	rs546992699	chr4:669980-669981	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
8	rs558996007	chr4:670019-670020	Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
9	rs532898497	chr4:670023-670024	Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
10	rs552719938	chr4:670054-670055	Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
11	rs145595271	chr4:670075-670076	Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
12	rs563248941	chr4:670103-670104	Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
13	rs538525632	chr4:670118-670119	Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
14	rs550169572	chr4:670131-670132	Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
15	rs568774806	chr4:670144-670145	Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
16	rs535823978	chr4:670161-670162	Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
17	rs554226077	chr4:670173-670174	Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
18	rs572556472	chr4:670187-670188	Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
19	rs148050884	chr4:670216-670217	Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
20	rs187620763	chr4:670232-670233	Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
21	rs557930298	chr4:670242-670243	Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
22	rs116594734	chr4:670263-670264	Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
23	rs114081632	chr4:670287-670288	Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
24	rs192542229	chr4:670337-670338	Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
25	rs573619984	chr4:670442-670443	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
26	rs540589341	chr4:670474-670475	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
27	rs118163852	chr4:670479-670480	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
28	rs377599754	chr4:670570-670571	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
29	rs551232879	chr4:670574-670575	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
30	rs111561980	chr4:670575-670576	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
31	rs564164349	chr4:670622-670623	Weak transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
32	rs117211311	chr4:670671-670672	Weak transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
33	rs531767447	chr4:670734-670735	Weak transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
34	rs74551323	chr4:670742-670743	Weak transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
35	rs374667350	chr4:670810-670811	Weak transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
36	rs550420208	chr4:670829-670830	Weak transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
37	rs114450750	chr4:670830-670831	Weak transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	mRNA abundance
38	rs529651731	chr4:670843-670844	Weak transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
39	rs547791760	chr4:670861-670862	Weak transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
40	rs184187611	chr4:670895-670896	Weak transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
41	rs539914399	chr4:670896-670897	Weak transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
42	rs557931350	chr4:670904-670905	Weak transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
43	rs570136571	chr4:670907-670908	Weak transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
44	rs536816147	chr4:670935-670936	Weak transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
45	rs372771412	chr4:671021-671022	Weak transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
46	rs190185025	chr4:671044-671045	Weak transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
47	rs573581464	chr4:671071-671072	Weak transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
48	rs181288147	chr4:671100-671101	Weak transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
49	rs540952644	chr4:671156-671157	Weak transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
50	rs552544347	chr4:671204-671205	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:64)

Disease	PMID	Source
Myelofibrosis	22110671	CNVD
Wolf-Hirschhorn syndrome	21549014	CNVD
Breast cancer	21806811	CNVD
Wolf-Hirschhorn syndrome	22283845	CNVD
Wolf-Hirschhorn syndrome	16773131	CNVD
Mental retardation	16773131	CNVD
Wolf-Hirschhorn syndrome	22470819	CNVD
Wolf-Hirschhorn syndrome	18541967	CNVD
sporadic birth defects	19047251	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Retinitis pigmentosa	18421352	CNVD
Wolf-Hirschhorn syndrome	19259404	CNVD
Bladder cancer	19242612	CNVD
Breast cancer	19242612	CNVD
Congenital anomalies of the kidney and urinary tract	19242612	CNVD
abnormal development	18461090	CNVD
Olfactory neuroblastoma	18408657	CNVD
Wilms tumour	21544195	CNVD
Melanoma	20688739	CNVD
Colorectal cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	17142309	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Developmental delay	21147756	CNVD
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21509527	CNVD
Breast cancer	22522925	CNVD
Type 2 diabetes	21754918	CNVD

Chromatin state (count:1277 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:667400-670200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr4:668600-670800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
3	chr4:668800-670000	Flanking Active TSS	Fetal Muscle Trunk	muscle
4	chr4:668800-670200	Flanking Active TSS	Fetal Muscle Leg	muscle
5	chr4:668800-670600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr4:668800-670800	Flanking Active TSS	GM12878-XiMat	blood
7	chr4:668800-671200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
8	chr4:668800-674400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr4:669000-670400	Flanking Active TSS	HSMM	muscle
10	chr4:669000-672200	Enhancers	Spleen	Spleen
11	chr4:669200-670000	Enhancers	Lung	lung
12	chr4:669200-670600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr4:669200-670800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr4:669200-671000	Enhancers	Fetal Heart	heart
15	chr4:669200-671000	Enhancers	Fetal Thymus	thymus
16	chr4:669200-671200	Enhancers	Placenta Amnion	Placenta Amnion
17	chr4:669200-671400	Enhancers	Primary B cells from peripheral blood	blood
18	chr4:669200-672000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr4:669200-672600	Enhancers	Esophagus	oesophagus
20	chr4:669200-672600	Enhancers	Fetal Intestine Large	intestine
21	chr4:669200-673000	Enhancers	Pancreas	Pancrea
22	chr4:669200-674200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr4:669200-674400	Weak transcription	Fetal Lung	lung
24	chr4:669400-670000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
25	chr4:669400-670000	Enhancers	Adipose Nuclei	Adipose
26	chr4:669400-670000	Enhancers	Liver	Liver
27	chr4:669400-670000	Active TSS	Brain Germinal Matrix	brain
28	chr4:669400-670000	Enhancers	Brain Inferior Temporal Lobe	brain
29	chr4:669400-670000	Enhancers	Right Ventricle	heart
30	chr4:669400-670200	Enhancers	Primary T helper cells PMA-I stimulated	--
31	chr4:669400-670200	Genic enhancers	Fetal Stomach	stomach
32	chr4:669400-670400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr4:669400-670400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr4:669400-670400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr4:669400-670400	Enhancers	HSMMtube	muscle
36	chr4:669400-670600	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr4:669400-670600	Genic enhancers	Fetal Intestine Small	intestine
38	chr4:669400-670600	Enhancers	K562	blood
39	chr4:669400-671000	Enhancers	Primary hematopoietic stem cells short term culture	blood
40	chr4:669400-671200	Enhancers	Primary B cells from cord blood	blood
41	chr4:669400-671400	Enhancers	Psoas Muscle	Psoas
42	chr4:669400-672200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr4:669400-672800	Enhancers	Duodenum Mucosa	Duodenum
44	chr4:669400-674000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr4:669400-674200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr4:669400-674200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr4:669400-674200	Weak transcription	NH-A	brain
48	chr4:669400-674400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr4:669400-674400	Weak transcription	Ovary	ovary
50	chr4:669400-674400	Weak transcription	Right Atrium	heart

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