Variant report

Variant	nsv538818
Chromosome Location	chr7:38227528-38372719
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1978)
CpG islands
(count:2751)
Chromatin interactive
region (count:83)
LncRNA
region (count:36)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1978 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr7:38298340-38298378	K562	blood:	n/a	n/a
2	ARID3A	chr7:38262122-38262443	HepG2	liver:	n/a	n/a
3	ARID3A	chr7:38333909-38333936	HepG2	liver:	n/a	n/a
4	ARID3A	chr7:38255463-38255553	HepG2	liver:	n/a	n/a
5	ARID3A	chr7:38255410-38255701	K562	blood:	n/a	n/a
6	ATF1	chr7:38319668-38320070	K562	blood:	n/a	n/a
7	ATF1	chr7:38298851-38299117	K562	blood:	n/a	n/a
8	ATF1	chr7:38255159-38255661	K562	blood:	n/a	n/a
9	ATF1	chr7:38227753-38227982	K562	blood:	n/a	n/a
10	ATF1	chr7:38332074-38332345	K562	blood:	n/a	n/a
11	ATF1	chr7:38285866-38286066	K562	blood:	n/a	n/a
12	ATF1	chr7:38285408-38285488	K562	blood:	n/a	n/a
13	ATF1	chr7:38229724-38229967	K562	blood:	n/a	n/a
14	ATF1	chr7:38278820-38279001	K562	blood:	n/a	n/a
15	ATF1	chr7:38358478-38358765	K562	blood:	n/a	n/a
16	ATF1	chr7:38296748-38296967	K562	blood:	n/a	n/a
17	ATF1	chr7:38233261-38233405	K562	blood:	n/a	n/a
18	ATF2	chr7:38272159-38273003	GM12878	blood:	n/a	n/a
19	ATF2	chr7:38255272-38255727	GM12878	blood:	n/a	n/a
20	ATF2	chr7:38289493-38289850	GM12878	blood:	n/a	n/a
21	ATF2	chr7:38358345-38358831	H1-hESC	embryonic stem cell:	n/a	n/a
22	BACH1	chr7:38262202-38262494	H1-hESC	embryonic stem cell:	n/a	n/a
23	BACH1	chr7:38371330-38371815	H1-hESC	embryonic stem cell:	n/a	chr7:38371628-38371642
24	BACH1	chr7:38255514-38255543	K562	blood:	n/a	n/a
25	BATF	chr7:38305659-38305874	GM12878	blood:	n/a	n/a
26	BATF	chr7:38289507-38289847	GM12878	blood:	n/a	n/a
27	BATF	chr7:38305616-38305913	GM12878	blood:	n/a	n/a
28	BATF	chr7:38272501-38272927	GM12878	blood:	n/a	n/a
29	BATF	chr7:38255328-38255727	GM12878	blood:	n/a	n/a
30	BATF	chr7:38289510-38289833	GM12878	blood:	n/a	n/a
31	BATF	chr7:38335625-38335952	GM12878	blood:	n/a	n/a
32	BATF	chr7:38335608-38335962	GM12878	blood:	n/a	n/a
33	BATF	chr7:38255388-38255662	GM12878	blood:	n/a	n/a
34	BCL11A	chr7:38335645-38335867	GM12878	blood:	n/a	n/a
35	BCL11A	chr7:38305548-38305926	GM12878	blood:	n/a	n/a
36	BCL11A	chr7:38272695-38272971	GM12878	blood:	n/a	n/a
37	BCL11A	chr7:38305612-38305832	GM12878	blood:	n/a	n/a
38	BCL11A	chr7:38289452-38289744	GM12878	blood:	n/a	chr7:38289640-38289649
39	BCL11A	chr7:38289442-38289823	GM12878	blood:	n/a	chr7:38289640-38289649
40	BCL11A	chr7:38335675-38335915	GM12878	blood:	n/a	n/a
41	BCLAF1	chr7:38272519-38273060	GM12878	blood:	n/a	n/a
42	BCLAF1	chr7:38272578-38273119	GM12878	blood:	n/a	n/a
43	BHLHE40	chr7:38335593-38335955	GM12878	blood:	n/a	n/a
44	BHLHE40	chr7:38330740-38331111	K562	blood:	n/a	n/a
45	BHLHE40	chr7:38370489-38370864	K562	blood:	n/a	n/a
46	BHLHE40	chr7:38313008-38313126	K562	blood:	n/a	n/a
47	BHLHE40	chr7:38255320-38255680	K562	blood:	n/a	n/a
48	BHLHE40	chr7:38272392-38272980	GM12878	blood:	n/a	n/a
49	BHLHE40	chr7:38351349-38351381	GM12878	blood:	n/a	n/a
50	BHLHE40	chr7:38330775-38331007	HepG2	liver:	n/a	n/a

(count:2751 , 50 per page) page: 1 2 3 4 5 6 7 ... 56

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:38370676-38370726	SKMC	muscle:	n/a
2	chr7:38350464-38350514	AG04450	lung:	fetal
3	chr7:38309984-38310034	AG09319	gingival:	n/a
4	chr7:38269241-38269291	SKMC	muscle:	n/a
5	chr7:38269241-38269291	HUVEC	blood vessel:	n/a
6	chr7:38298966-38299016	SAEC	small airway:	n/a
7	chr7:38370676-38370726	SKMC	muscle:	n/a
8	chr7:38350464-38350514	AG04450	lung:	fetal
9	chr7:38309984-38310034	AG09319	gingival:	n/a
10	chr7:38269241-38269291	SKMC	muscle:	n/a
11	chr7:38269241-38269291	HUVEC	blood vessel:	n/a
12	chr7:38298966-38299016	SAEC	small airway:	n/a
13	chr7:38344934-38344984	HIPEpiC	eye:	n/a
14	chr7:38296393-38296443	PrEC	prostate:	n/a
15	chr7:38255578-38255628	HL-60	blood:	n/a
16	chr7:38361199-38361249	SK-N-SH_RA	brain:	n/a
17	chr7:38350921-38350971	NB4	blood:	n/a
18	chr7:38351094-38351144	HPAEpiC	pulmonary alveolar:	n/a
19	chr7:38347775-38347825	BJ	skin:	n/a
20	chr7:38238509-38238559	H1-hESC	embryonic stem cell:	embryo
21	chr7:38298908-38298958	SK-N-MC	brain:	n/a
22	chr7:38238509-38238559	MCF10A-Er-Src	breast:	n/a
23	chr7:38351468-38351518	HCM	heart:	n/a
24	chr7:38315964-38316014	CMK	blood:	n/a
25	chr7:38227870-38227920	NH-A	brain:	n/a
26	chr7:38350938-38350988	H1-hESC	embryonic stem cell:	embryo
27	chr7:38340103-38340153	T-47D	breast:	n/a
28	chr7:38331871-38331921	HRE	kidney:	n/a
29	chr7:38355100-38355150	PANC-1	pancreas:	n/a
30	chr7:38227870-38227920	A549	lung:	n/a
31	chr7:38315964-38316014	HRE	kidney:	n/a
32	chr7:38351154-38351204	HPAEpiC	pulmonary alveolar:	n/a
33	chr7:38370988-38371038	IMR90	lung:	fetal
34	chr7:38351468-38351518	AG04450	lung:	fetal
35	chr7:38344455-38344505	Hepatocyte	liver:	n/a
36	chr7:38356729-38356779	PFSK-1	brain:	n/a
37	chr7:38350464-38350514	Jurkat	blood:	n/a
38	chr7:38356729-38356779	HPAEpiC	pulmonary alveolar:	n/a
39	chr7:38348929-38348979	U87	brain:	n/a
40	chr7:38331871-38331921	NT2-D1	testis:	n/a
41	chr7:38347775-38347825	HIPEpiC	eye:	n/a
42	chr7:38351468-38351518	GM12891	blood:	n/a
43	chr7:38309984-38310034	HepG2	liver:	n/a
44	chr7:38350464-38350514	U87	brain:	n/a
45	chr7:38255578-38255628	SK-N-SH_RA	brain:	n/a
46	chr7:38357684-38357734	GM12891	blood:	n/a
47	chr7:38312366-38312416	GM12891	blood:	n/a
48	chr7:38344934-38344984	A549	lung:	n/a
49	chr7:38370676-38370726	Jurkat	blood:	n/a
50	chr7:38255578-38255628	HEEpiC	esophagus:	n/a

(count:83 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr7:38365694..38367640-chr7:38368298..38369847,2	K562	blood:
2	chr7:38268103..38269784-chr7:38382757..38385051,2	K562	blood:
3	chr7:38338259..38341713-chr7:38349234..38353582,4	K562	blood:
4	chr7:38250828..38252770-chr7:38255692..38258267,2	K562	blood:
5	chr7:38320521..38322943-chr7:38347615..38349997,2	K562	blood:
6	chr7:38146750..38147644-chr7:38255037..38256019,2	K562	blood:
7	chr7:38233687..38235953-chr7:38237022..38238979,2	K562	blood:
8	chr7:38255012..38257306-chr7:38260650..38262240,2	K562	blood:
9	chr7:38232147..38233804-chr7:38237596..38239411,2	K562	blood:
10	chr7:38233687..38235953-chr7:38237022..38238979,2	K562	blood:
11	chr7:38262524..38265185-chr7:38273332..38275255,2	K562	blood:
12	chr7:38337293..38339358-chr7:38341457..38343029,2	K562	blood:
13	chr7:38301028..38303453-chr7:38304151..38306717,2	K562	blood:
14	chr7:38342202..38344316-chr7:38351382..38353535,2	K562	blood:
15	chr7:38217781..38219507-chr7:38249779..38251931,2	MCF-7	breast:
16	chr19:47892610..47893302-chr7:38314653..38315604,2	NB4	blood:
17	chr7:38338259..38344316-chr7:38349234..38354817,8	K562	blood:
18	chr7:38338259..38344316-chr7:38349234..38354817,8	K562	blood:
19	chr7:38146737..38148304-chr7:38261624..38262803,9	K562	blood:
20	chr7:38246853..38248824-chr7:38252553..38254232,2	MCF-7	breast:
21	chr7:38309718..38312267-chr7:38320422..38323270,2	MCF-7	breast:
22	chr7:38322069..38325279-chr7:38325414..38329966,4	K562	blood:
23	chr4:10118970..10119677-chr7:38276136..38276938,2	NB4	blood:
24	chr7:38272138..38275044-chr7:38351799..38354206,2	K562	blood:
25	chr7:38309718..38312267-chr7:38320422..38323270,2	MCF-7	breast:
26	chr7:38338259..38341713-chr7:38349234..38353582,4	K562	blood:
27	chr5:150068580..150069370-chr7:38338298..38339028,2	NB4	blood:
28	chr7:38232147..38233804-chr7:38237596..38239411,2	K562	blood:
29	chr7:38257222..38258040-chrX:25486308..25487110,2	HCT-116	colon:
30	chr7:38320521..38322943-chr7:38347615..38349997,2	K562	blood:
31	chr7:38357958..38360447-chr7:38360808..38363317,4	K562	blood:
32	chr7:38253002..38255460-chr7:38256658..38259135,2	K562	blood:
33	chr7:38218320..38221053-chr7:38246020..38247686,2	K562	blood:
34	chr7:38327903..38329443-chr7:38331082..38333824,2	MCF-7	breast:
35	chr7:38322069..38325279-chr7:38325414..38329966,4	K562	blood:
36	chr7:38342202..38344316-chr7:38351382..38353535,2	K562	blood:
37	chr7:38261872..38262390-chr7:38358243..38358960,2	MCF-7	breast:
38	chr7:38147469..38148161-chr7:38261438..38262362,2	MCF-7	breast:
39	chr7:38254875..38255995-chr7:38357724..38359529,9	MCF-7	breast:
40	chr7:38255022..38255645-chr7:38375302..38376120,3	MCF-7	breast:
41	chr7:38217836..38219466-chr7:38255497..38257831,2	K562	blood:
42	chr7:38316692..38319374-chr7:38324142..38325804,2	MCF-7	breast:
43	chr7:38337293..38339358-chr7:38341457..38343029,2	K562	blood:
44	chr7:37940728..37941537-chr7:38358496..38359055,2	MCF-7	breast:
45	chr7:38350855..38351410-chr9:4679053..4679680,2	NB4	blood:
46	chr7:38350491..38353138-chr7:38373860..38375500,2	K562	blood:
47	chr7:38246853..38248824-chr7:38252553..38254232,2	MCF-7	breast:
48	chr7:38272138..38275044-chr7:38351799..38354206,2	K562	blood:
49	chr7:38253002..38255460-chr7:38256658..38259135,2	K562	blood:
50	chr7:38350441..38353889-chr7:38368470..38373744,5	K562	blood:

(count:36 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AMPH-10	chr7:38289106-38289173	NONHSAT120166
2	lnc-AMPH-10	chr7:38356621-38356709	NONHSAT120161
3	lnc-AMPH-10	chr7:38310012-38310298	ucscGeneNc_uc003tgm_1
4	lnc-AMPH-10	chr7:38305211-38305279	NONHSAT120170
5	lnc-AMPH-6	chr7:38368841-38369244	ENSG00000272908.1
6	lnc-AMPH-2	chr7:38342383-38343224	ENSG00000244971
7	lnc-AMPH-10	chr7:38313188-38313242	NONHSAT120170
8	lnc-AMPH-2	chr7:38343487-38343773	NONHSAT120173
9	lnc-AMPH-10	chr7:38295939-38295993	NONHSAT120166
10	lnc-AMPH-10	chr7:38308874-38309749	ucscGeneNc_uc003tgm_1
11	lnc-AMPH-9	chr7:38305937-38306406	ucscGeneNc_uc003tgl_1
12	lnc-AMPH-10	chr7:38289105-38289173	NONHSAT120161
13	lnc-STARD3NL-1	chr7:38356472-38356576	ucscGeneNc_uc003tgp_1
14	lnc-AMPH-10	chr7:38356605-38356709	NONHSAT120166
15	lnc-AMPH-2	chr7:38344265-38344378	NONHSAT120173
16	lnc-AMPH-2	chr7:38344265-38345247	ENSG00000244971
17	lnc-AMPH-10	chr7:38356621-38356709	NONHSAT120162
18	lnc-STARD3NL-1	chr7:38347741-38347925	ucscGeneNc_uc003tgp_1
19	lnc-AMPH-10	chr7:38356616-38356709	NONHSAT120169
20	lnc-AMPH-2	chr7:38342349-38343224	NONHSAT120173
21	lnc-AMPH-10	chr7:38293236-38293239	NONHSAT120162
22	lnc-AMPH-10	chr7:38292981-38293025	NONHSAT120162
23	lnc-AMPH-10	chr7:38313188-38313238	NONHSAT120169
24	lnc-AMPH-10	chr7:38295939-38296001	NONHSAT120167
25	lnc-AMPH-7	chr7:38362047-38362331	NONHSAT120176
26	lnc-AMPH-10	chr7:38310790-38310903	ucscGeneNc_uc003tgm_1
27	lnc-STARD3NL-1	chr7:38352147-38352253	ucscGeneNc_uc003tgp_1
28	lnc-AMPH-10	chr7:38289105-38289173	NONHSAT120162
29	lnc-AMPH-8	chr7:38335364-38335834	NONHSAT120172
30	lnc-AMPH-10	chr7:38289106-38289173	NONHSAT120167
31	lnc-AMPH-10	chr7:38356622-38356709	NONHSAT120167
32	lnc-AMPH-10	chr7:38356623-38356709	NONHSAT120170
33	lnc-AMPH-2	chr7:38343487-38343773	ENSG00000244971
34	lnc-AMPH-6	chr7:38365671-38367234	ENSG00000272908.1
35	lnc-AMPH-10	chr7:38292981-38293028	NONHSAT120161
36	lnc-AMPH-10	chr7:38305211-38305279	NONHSAT120169

No data

Variant related genes	Relation type
TRGC2	TF binding region
TRGC1	TF binding region
ENSG00000272908	TF binding region
TRGVB	TF binding region
TRGJP	TF binding region
TRGJP1	TF binding region
TRGJ1	TF binding region
TRGVA	TF binding region
TRGJP2	TF binding region
TRGV10	TF binding region
TRGV11	TF binding region
TRGJ2	TF binding region
ENSG00000231916	TF binding region
TRGV9	TF binding region
TRGV8	TF binding region
TRGC2	CpG island
TRGC1	CpG island
ENSG00000272908	CpG island
TRGVB	CpG island
TRGJP	CpG island
TRGJP1	CpG island
TRGJ1	CpG island
TRGVA	CpG island
TRGJP2	CpG island
TRGV10	CpG island
TRGV11	CpG island
TRGJ2	CpG island
ENSG00000231916	CpG island
TRGV9	CpG island
TRGV8	CpG island
ENSG00000211695	chromatin interactions
ENSG00000010270	chromatin interactions
ENSG00000182919	chromatin interactions
ENSG00000204472	chromatin interactions
ENSG00000272908	chromatin interactions
ENSG00000211691	chromatin interactions
ENSG00000211693	chromatin interactions
ENSG00000211689	chromatin interactions
ENSG00000185129	chromatin interactions
ENSG00000166012	chromatin interactions
ENSG00000211696	chromatin interactions
ENSG00000106993	chromatin interactions
ENSG00000231202	chromatin interactions
ENSG00000273061	chromatin interactions
ENSG00000226212	chromatin interactions
ENSG00000245146	chromatin interactions
ENSG00000225992	chromatin interactions
ENSG00000211694	chromatin interactions
ENSG00000231916	chromatin interactions
ENSG00000249978	chromatin interactions
PTEN	miRNA target sites

Extended variants
information (count: 6147 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:6147 , 50 per page) page: 1 2 3 4 5 6 7 ... 123

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184195401	chr7:38227535-38227536	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs140583435	chr7:38227544-38227545	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs11766312	chr7:38227592-38227593	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs374699726	chr7:38227601-38227602	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs539393286	chr7:38227615-38227616	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs150484008	chr7:38227637-38227638	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs549738793	chr7:38227648-38227649	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs78199220	chr7:38227655-38227656	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs144008779	chr7:38227656-38227657	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs551406193	chr7:38227675-38227676	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs7777136	chr7:38227691-38227692	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs566282073	chr7:38227697-38227698	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs11766341	chr7:38227749-38227750	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs188249105	chr7:38227772-38227773	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs533899303	chr7:38227803-38227804	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs371604996	chr7:38227815-38227816	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs377711259	chr7:38227841-38227842	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs563863256	chr7:38227848-38227849	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs577637547	chr7:38227870-38227871	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs370423543	chr7:38227871-38227872	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs557128561	chr7:38227895-38227896	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs573658131	chr7:38227933-38227934	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs555530636	chr7:38227935-38227936	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs533968763	chr7:38227998-38227999	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs542692200	chr7:38228011-38228012	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs192256903	chr7:38228089-38228090	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs553958836	chr7:38228096-38228097	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs573067347	chr7:38228119-38228120	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs375579619	chr7:38228123-38228124	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs564956104	chr7:38228148-38228149	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs368150032	chr7:38228149-38228150	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs28431269	chr7:38228150-38228151	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs574134574	chr7:38228255-38228256	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs549839539	chr7:38228268-38228269	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs369615648	chr7:38228427-38228428	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs13242943	chr7:38228428-38228429	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs567350756	chr7:38228467-38228468	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs563485251	chr7:38228470-38228471	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs147309038	chr7:38228479-38228480	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs17171306	chr7:38228480-38228481	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs556573921	chr7:38228495-38228496	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs578196764	chr7:38228497-38228498	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs17171307	chr7:38228578-38228579	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs576222894	chr7:38228582-38228583	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs79230798	chr7:38228603-38228604	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs544844067	chr7:38228637-38228638	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs572177619	chr7:38228686-38228687	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs148560081	chr7:38228721-38228722	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs56335057	chr7:38228722-38228723	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs139898824	chr7:38228731-38228732	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Hepatocellular carcinoma	16750200	CNVD
Prostate cancer	18632612	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Acute myeloid leukemia	17237825	CNVD
Breast cancer	17899364	CNVD
Breast cancer	20409316	CNVD
Acute monocytic leukemia	16498392	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	21645411	CNVD
Colorectal cancer	19455253	CNVD
Glioblastoma multiforme	22286061	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Sezary syndrome	18413736	CNVD
Gastric cancer	24379144	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Schizophrenia	23813976	CNVD
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
early-passage human iPS cells	21368824	CNVD
Multiple sclerosis	20428171	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Cancer	20164919	CNVD
Neuroblastoma	19536264	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:2968 , 50 per page) page: 1 2 3 4 5 6 7 ... 60

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:38218600-38259200	Weak transcription	Colonic Mucosa	Colon
2	chr7:38218800-38227800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr7:38218800-38227800	Weak transcription	Fetal Muscle Trunk	muscle
4	chr7:38219600-38241400	Weak transcription	Fetal Intestine Large	intestine
5	chr7:38219800-38227800	Weak transcription	Lung	lung
6	chr7:38219800-38234600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr7:38220200-38227800	Weak transcription	Brain Substantia Nigra	brain
8	chr7:38220200-38235400	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr7:38220200-38235400	Weak transcription	Thymus	Thymus
10	chr7:38220200-38236800	Weak transcription	Fetal Stomach	stomach
11	chr7:38220200-38246600	Weak transcription	Fetal Thymus	thymus
12	chr7:38220200-38254800	Weak transcription	Brain Hippocampus Middle	brain
13	chr7:38220400-38228000	Weak transcription	Duodenum Mucosa	Duodenum
14	chr7:38220400-38228400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr7:38220400-38230000	Weak transcription	Fetal Lung	lung
16	chr7:38220400-38232400	Weak transcription	Fetal Brain Male	brain
17	chr7:38220400-38247000	Weak transcription	Fetal Intestine Small	intestine
18	chr7:38220800-38228000	Weak transcription	Fetal Brain Female	brain
19	chr7:38220800-38231000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr7:38221000-38236400	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr7:38221000-38246800	Weak transcription	Primary T cells from cord blood	blood
22	chr7:38221400-38228000	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr7:38223600-38255600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr7:38224000-38231400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr7:38224200-38235800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr7:38224200-38235800	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr7:38224200-38235800	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr7:38224600-38227600	Enhancers	HSMMtube	muscle
29	chr7:38224600-38227600	Enhancers	Osteobl	bone
30	chr7:38224800-38228000	Enhancers	Skeletal Muscle Male	skeletal muscle
31	chr7:38224800-38229800	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr7:38224800-38230400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr7:38225000-38229200	Enhancers	Primary B cells from peripheral blood	blood
34	chr7:38225000-38229600	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr7:38225000-38229600	Enhancers	Primary B cells from cord blood	blood
36	chr7:38225000-38247000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr7:38225200-38227800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr7:38225200-38228000	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr7:38225400-38229800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr7:38225400-38230200	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr7:38225600-38227600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr7:38225600-38228400	Enhancers	Fetal Heart	heart
43	chr7:38225600-38235800	Weak transcription	Ovary	ovary
44	chr7:38225800-38227600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr7:38225800-38227800	Weak transcription	Right Ventricle	heart
46	chr7:38225800-38229800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr7:38225800-38235800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr7:38226000-38227600	Enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr7:38226000-38227600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr7:38226000-38229800	Enhancers	HUES6 Cell Line	embryonic stem cell

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