Variant report

Variant	esv29985
Chromosome Location	chr7:38268395-38358728
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1044)
CpG islands
(count:2201)
Chromatin interactive
region (count:44)
LncRNA
region (count:33)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1044 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr7:38333909-38333936	HepG2	liver:	n/a	n/a
2	ARID3A	chr7:38298340-38298378	K562	blood:	n/a	n/a
3	ATF1	chr7:38332074-38332345	K562	blood:	n/a	n/a
4	ATF1	chr7:38298851-38299117	K562	blood:	n/a	n/a
5	ATF1	chr7:38285866-38286066	K562	blood:	n/a	n/a
6	ATF1	chr7:38319668-38320070	K562	blood:	n/a	n/a
7	ATF1	chr7:38358478-38358765	K562	blood:	n/a	n/a
8	ATF1	chr7:38285408-38285488	K562	blood:	n/a	n/a
9	ATF1	chr7:38278820-38279001	K562	blood:	n/a	n/a
10	ATF1	chr7:38296748-38296967	K562	blood:	n/a	n/a
11	ATF2	chr7:38358345-38358831	H1-hESC	embryonic stem cell:	n/a	n/a
12	ATF2	chr7:38289493-38289850	GM12878	blood:	n/a	n/a
13	ATF2	chr7:38272159-38273003	GM12878	blood:	n/a	n/a
14	BATF	chr7:38289507-38289847	GM12878	blood:	n/a	n/a
15	BATF	chr7:38272501-38272927	GM12878	blood:	n/a	n/a
16	BATF	chr7:38305616-38305913	GM12878	blood:	n/a	n/a
17	BATF	chr7:38335608-38335962	GM12878	blood:	n/a	n/a
18	BATF	chr7:38305659-38305874	GM12878	blood:	n/a	n/a
19	BATF	chr7:38335625-38335952	GM12878	blood:	n/a	n/a
20	BATF	chr7:38289510-38289833	GM12878	blood:	n/a	n/a
21	BCL11A	chr7:38305548-38305926	GM12878	blood:	n/a	n/a
22	BCL11A	chr7:38289452-38289744	GM12878	blood:	n/a	chr7:38289640-38289649
23	BCL11A	chr7:38335645-38335867	GM12878	blood:	n/a	n/a
24	BCL11A	chr7:38335675-38335915	GM12878	blood:	n/a	n/a
25	BCL11A	chr7:38289442-38289823	GM12878	blood:	n/a	chr7:38289640-38289649
26	BCL11A	chr7:38272695-38272971	GM12878	blood:	n/a	n/a
27	BCL11A	chr7:38305612-38305832	GM12878	blood:	n/a	n/a
28	BCLAF1	chr7:38272578-38273119	GM12878	blood:	n/a	n/a
29	BCLAF1	chr7:38272519-38273060	GM12878	blood:	n/a	n/a
30	BHLHE40	chr7:38339818-38340010	K562	blood:	n/a	n/a
31	BHLHE40	chr7:38272392-38272980	GM12878	blood:	n/a	n/a
32	BHLHE40	chr7:38351349-38351381	GM12878	blood:	n/a	n/a
33	BHLHE40	chr7:38330775-38331007	HepG2	liver:	n/a	n/a
34	BHLHE40	chr7:38358558-38358736	K562	blood:	n/a	n/a
35	BHLHE40	chr7:38335593-38335955	GM12878	blood:	n/a	n/a
36	BHLHE40	chr7:38351090-38351531	K562	blood:	n/a	n/a
37	BHLHE40	chr7:38313008-38313126	K562	blood:	n/a	n/a
38	BHLHE40	chr7:38330740-38331111	K562	blood:	n/a	n/a
39	CBX3	chr7:38350978-38351579	K562	blood:	n/a	n/a
40	CCNT2	chr7:38350861-38351244	K562	blood:	n/a	n/a
41	CEBPB	chr7:38282956-38283330	IMR90	lung:	n/a	n/a
42	CEBPB	chr7:38285344-38285395	K562	blood:	n/a	n/a
43	CEBPB	chr7:38282932-38283307	K562	blood:	n/a	chr7:38282939-38282951
44	CEBPB	chr7:38321770-38322083	HepG2	liver:	n/a	chr7:38321909-38321920
45	CEBPB	chr7:38330530-38330719	K562	blood:	n/a	n/a
46	CEBPB	chr7:38321761-38322047	K562	blood:	n/a	chr7:38321909-38321920
47	CEBPB	chr7:38282957-38283329	A549	lung:	n/a	n/a
48	CEBPB	chr7:38282969-38283326	HepG2	liver:	n/a	n/a
49	CEBPB	chr7:38282957-38283270	H1-hESC	embryonic stem cell:	n/a	n/a
50	CEBPB	chr7:38282943-38283333	K562	blood:	n/a	n/a

(count:2201 , 50 per page) page: 1 2 3 4 5 6 7 ... 45

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:38298966-38299016	GM12891	blood:	n/a
2	chr7:38344455-38344505	HEK293	kidney:	embryo
3	chr7:38344983-38345033	Hepatocyte	liver:	n/a
4	chr7:38315971-38316021	GM19239	blood:	n/a
5	chr7:38331753-38331803	H1-hESC	embryonic stem cell:	embryo
6	chr7:38298966-38299016	GM12891	blood:	n/a
7	chr7:38344455-38344505	HEK293	kidney:	embryo
8	chr7:38344983-38345033	Hepatocyte	liver:	n/a
9	chr7:38315971-38316021	GM19239	blood:	n/a
10	chr7:38331753-38331803	H1-hESC	embryonic stem cell:	embryo
11	chr7:38358683-38358733	HMEC	breast:	n/a
12	chr7:38309984-38310034	GM12878	blood:	n/a
13	chr7:38344455-38344505	AG04450	lung:	fetal
14	chr7:38299481-38299531	SK-N-MC	brain:	n/a
15	chr7:38350464-38350514	PrEC	prostate:	n/a
16	chr7:38344455-38344505	NT2-D1	testis:	n/a
17	chr7:38309984-38310034	Hela-S3	cervix:	n/a
18	chr7:38348929-38348979	AoSMC	blood vessel:	n/a
19	chr7:38356808-38356858	AG09319	gingival:	n/a
20	chr7:38299481-38299531	AG04450	lung:	fetal
21	chr7:38312366-38312416	GM12891	blood:	n/a
22	chr7:38357684-38357734	ProgFib	skin:	n/a
23	chr7:38351468-38351518	HCPEpiC	choroid plexus:	n/a
24	chr7:38315971-38316021	HEK293	kidney:	embryo
25	chr7:38356865-38356915	U87	brain:	n/a
26	chr7:38316654-38316704	HPAEpiC	pulmonary alveolar:	n/a
27	chr7:38298966-38299016	GM06990	blood:	n/a
28	chr7:38358683-38358733	IMR90	lung:	fetal
29	chr7:38347775-38347825	NT2-D1	testis:	n/a
30	chr7:38294113-38294163	HCF	heart:	n/a
31	chr7:38351094-38351144	Hela-S3	cervix:	n/a
32	chr7:38331753-38331803	MCF10A-Er-Src	breast:	n/a
33	chr7:38347775-38347825	HCPEpiC	choroid plexus:	n/a
34	chr7:38351154-38351204	AG09309	skin:	n/a
35	chr7:38315964-38316014	HRPEpiC	eye:	n/a
36	chr7:38344934-38344984	HUVEC	blood vessel:	n/a
37	chr7:38350921-38350971	SKMC	muscle:	n/a
38	chr7:38357684-38357734	T-47D	breast:	n/a
39	chr7:38315971-38316021	HepG2	liver:	n/a
40	chr7:38340103-38340153	T-47D	breast:	n/a
41	chr7:38351154-38351204	AG10803	skin:	n/a
42	chr7:38351468-38351518	HEK293	kidney:	embryo
43	chr7:38351226-38351276	BJ	skin:	n/a
44	chr7:38347775-38347825	HMEC	breast:	n/a
45	chr7:38344983-38345033	HNPCEpiC	eye:	n/a
46	chr7:38331753-38331803	GM06990	blood:	n/a
47	chr7:38296393-38296443	AG04449	skin:	fetal
48	chr7:38357047-38357097	GM12878	blood:	n/a
49	chr7:38356729-38356779	Caco-2	colon:	n/a
50	chr7:38351226-38351276	NHBE	bronchial:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr7:38268526..38271338-chr7:38351636..38353674,2	K562	blood:
2	chr7:38337293..38339358-chr7:38341457..38343029,2	K562	blood:
3	chr7:38338259..38341713-chr7:38349234..38353582,4	K562	blood:
4	chr7:38269978..38272526-chr7:38377435..38379545,2	K562	blood:
5	chr7:38268526..38271338-chr7:38351636..38353674,2	K562	blood:
6	chr6:31583767..31584372-chr7:38349943..38350554,2	NB4	blood:
7	chr7:38322069..38325279-chr7:38325414..38329966,4	K562	blood:
8	chr7:37940728..37941537-chr7:38358496..38359055,2	MCF-7	breast:
9	chr5:150068580..150069370-chr7:38338298..38339028,2	NB4	blood:
10	chr7:38350855..38351410-chr9:4679053..4679680,2	NB4	blood:
11	chr7:38268103..38269784-chr7:38382757..38385051,2	K562	blood:
12	chr7:38316692..38319374-chr7:38324142..38325804,2	MCF-7	breast:
13	chr7:38329299..38330977-chr7:38349932..38352366,2	K562	blood:
14	chr7:38350491..38353138-chr7:38373860..38375500,2	K562	blood:
15	chr19:47892610..47893302-chr7:38314653..38315604,2	NB4	blood:
16	chr7:38325300..38328102-chr7:38356981..38359031,2	K562	blood:
17	chr7:38263678..38267697-chr7:38270258..38274189,5	K562	blood:
18	chr7:38327903..38329443-chr7:38331082..38333824,2	MCF-7	breast:
19	chr7:38322069..38325279-chr7:38325414..38329966,4	K562	blood:
20	chr7:38333908..38338085-chr7:38338653..38341388,3	K562	blood:
21	chr7:38272138..38275044-chr7:38351799..38354206,2	K562	blood:
22	chr5:139487048..139487856-chr7:38339265..38339924,2	NB4	blood:
23	chr7:38301028..38303453-chr7:38304151..38306717,2	K562	blood:
24	chr7:38272138..38275044-chr7:38351799..38354206,2	K562	blood:
25	chr7:38262524..38265185-chr7:38273332..38275255,2	K562	blood:
26	chr7:38333908..38338085-chr7:38338653..38341388,3	K562	blood:
27	chr7:38338259..38344316-chr7:38349234..38354817,8	K562	blood:
28	chr7:38342202..38344316-chr7:38351382..38353535,2	K562	blood:
29	chr11:93474211..93474958-chr7:38350865..38351599,2	NB4	blood:
30	chr7:38357958..38360447-chr7:38360808..38363317,4	K562	blood:
31	chr7:38338259..38344316-chr7:38349234..38354817,8	K562	blood:
32	chr7:38309718..38312267-chr7:38320422..38323270,2	MCF-7	breast:
33	chr7:38316692..38319374-chr7:38324142..38325804,2	MCF-7	breast:
34	chr7:38145396..38146142-chr7:38358527..38359113,2	MCF-7	breast:
35	chr7:38338259..38341713-chr7:38349234..38353582,4	K562	blood:
36	chr4:10118970..10119677-chr7:38276136..38276938,2	NB4	blood:
37	chr7:38337293..38339358-chr7:38341457..38343029,2	K562	blood:
38	chr7:38320521..38322943-chr7:38347615..38349997,2	K562	blood:
39	chr7:38342202..38344316-chr7:38351382..38353535,2	K562	blood:
40	chr7:38350441..38353889-chr7:38368470..38373744,5	K562	blood:
41	chr7:38309718..38312267-chr7:38320422..38323270,2	MCF-7	breast:
42	chr7:38350491..38352001-chr7:38373860..38376555,2	K562	blood:
43	chr7:38320521..38322943-chr7:38347615..38349997,2	K562	blood:
44	chr7:38312675..38315674-chr7:38326850..38329772,2	K562	blood:

(count:33 , 50 per page) page: 1

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

No data

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

Extended variants
information (count: 4142 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:4142 , 50 per page) page: 1 2 3 4 5 6 7 ... 83

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7795499	chr7:38268395-38268396	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs144429501	chr7:38268415-38268416	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs367896438	chr7:38268423-38268424	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs199784906	chr7:38268429-38268430	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs11547098	chr7:38268433-38268434	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs372134621	chr7:38268446-38268447	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs575090325	chr7:38268476-38268477	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs111969883	chr7:38268496-38268497	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs188168037	chr7:38268515-38268516	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs574659936	chr7:38268522-38268523	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs180885054	chr7:38268559-38268560	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs111786320	chr7:38268563-38268564	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs560384612	chr7:38268575-38268576	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs372607405	chr7:38268645-38268646	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs2191313	chr7:38268718-38268719	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs34736781	chr7:38268764-38268765	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs10252428	chr7:38268811-38268812	Strong transcription Genic enhancers Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs565391852	chr7:38268845-38268846	Strong transcription Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs530782046	chr7:38268907-38268908	Strong transcription Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs550927941	chr7:38268920-38268921	Strong transcription Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs561163205	chr7:38269036-38269037	Strong transcription Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs530415174	chr7:38269072-38269073	Strong transcription Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs546937736	chr7:38269102-38269103	Strong transcription Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs368731703	chr7:38269106-38269107	Strong transcription Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs566679084	chr7:38269111-38269112	Strong transcription Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs10226230	chr7:38269292-38269293	Strong transcription Genic enhancers Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs551822988	chr7:38269316-38269317	Strong transcription Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs183949970	chr7:38269318-38269319	Strong transcription Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs537572743	chr7:38269329-38269330	Strong transcription Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs554540262	chr7:38269351-38269352	Strong transcription Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs74578651	chr7:38269356-38269357	Strong transcription Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs536924443	chr7:38269363-38269364	Strong transcription Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs377233640	chr7:38269397-38269398	Strong transcription Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs534031840	chr7:38269405-38269406	Strong transcription Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs554117388	chr7:38269452-38269453	Strong transcription Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs56141476	chr7:38269462-38269463	Strong transcription Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs2286691	chr7:38269463-38269464	Strong transcription Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs546040338	chr7:38269464-38269465	Strong transcription Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs552085749	chr7:38269491-38269492	Strong transcription Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs76535148	chr7:38269535-38269536	Strong transcription Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs570340781	chr7:38269613-38269614	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs370130385	chr7:38269629-38269630	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs534658215	chr7:38269633-38269634	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs8163	chr7:38269668-38269669	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs9490	chr7:38269675-38269676	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs189462480	chr7:38269680-38269681	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs530045527	chr7:38269686-38269687	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs148612877	chr7:38269688-38269689	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs372548187	chr7:38269728-38269729	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs376967816	chr7:38269808-38269809	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

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
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
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
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Cancer	20164919	CNVD
Neuroblastoma	19536264	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:1352 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:38238600-38268800	Weak transcription	Esophagus	oesophagus
2	chr7:38251600-38270400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr7:38251800-38270200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr7:38252000-38272400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr7:38252000-38273000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:38255000-38268800	Weak transcription	Gastric	stomach
7	chr7:38255400-38271800	Weak transcription	Small Intestine	intestine
8	chr7:38255600-38268600	Weak transcription	Pancreas	Pancrea
9	chr7:38256200-38268800	Strong transcription	HSMM	muscle
10	chr7:38257200-38268600	Weak transcription	HepG2	liver
11	chr7:38257600-38270800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr7:38257800-38270800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr7:38258000-38268800	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr7:38259600-38273800	Weak transcription	Rectal Smooth Muscle	rectum
15	chr7:38259800-38268800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr7:38260000-38268400	Weak transcription	Colon Smooth Muscle	Colon
17	chr7:38260000-38269000	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr7:38260200-38268600	Weak transcription	NHEK	skin
19	chr7:38260200-38269600	Weak transcription	Fetal Heart	heart
20	chr7:38260400-38268800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr7:38260400-38271600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr7:38260400-38273800	Weak transcription	Fetal Brain Male	brain
23	chr7:38260600-38268800	Weak transcription	Brain Germinal Matrix	brain
24	chr7:38261600-38268800	Weak transcription	Brain Angular Gyrus	brain
25	chr7:38261600-38268800	Weak transcription	Brain Anterior Caudate	brain
26	chr7:38261600-38268800	Weak transcription	Fetal Brain Female	brain
27	chr7:38261600-38269000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr7:38261600-38269000	Weak transcription	Brain Hippocampus Middle	brain
29	chr7:38261600-38270800	Weak transcription	NHLF	lung
30	chr7:38261600-38274800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr7:38261600-38277200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr7:38261800-38268400	Weak transcription	Placenta	Placenta
33	chr7:38261800-38268800	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr7:38261800-38268800	Weak transcription	Brain Cingulate Gyrus	brain
35	chr7:38261800-38268800	Weak transcription	Brain Substantia Nigra	brain
36	chr7:38261800-38268800	Weak transcription	Thymus	Thymus
37	chr7:38261800-38269000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr7:38262200-38268800	Weak transcription	K562	blood
39	chr7:38262600-38271600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr7:38262800-38268400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr7:38262800-38268800	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr7:38263000-38268600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr7:38263000-38268800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr7:38263000-38269000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr7:38263000-38271200	Weak transcription	HMEC	breast
46	chr7:38263000-38272800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr7:38263200-38268400	Weak transcription	Primary T helper cells PMA-I stimulated	--
48	chr7:38263200-38268800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr7:38263200-38268800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr7:38263200-38268800	Weak transcription	Brain Inferior Temporal Lobe	brain

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