Variant report

Variant	rs7912323
Chromosome Location	chr10:116249289-116249290
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr10:116249245-116249983	HepG2	liver:	n/a	n/a
2	HNF4A	chr10:116248934-116249775	HepG2	liver:	n/a	chr10:116249388-116249400 chr10:116249385-116249401 chr10:116249335-116249350
3	FOXA1	chr10:116249003-116249814	HepG2	liver:	n/a	chr10:116249274-116249286 chr10:116249270-116249282
4	RAD21	chr10:116249235-116249824	HepG2	liver:	n/a	chr10:116249387-116249397
5	GATA3	chr10:116249185-116249812	SK-N-SH	brain:	n/a	n/a
6	TCF7L2	chr10:116249027-116249907	HepG2	liver:	n/a	n/a
7	NR2F2	chr10:116248963-116250055	HepG2	liver:	n/a	n/a
8	ESR1	chr10:116249219-116249663	ECC-1	luminal epithelium:	n/a	n/a
9	NFIC	chr10:116249104-116249864	HepG2	liver:	n/a	n/a
10	USF1	chr10:116249271-116249628	H1-hESC	embryonic stem cell:	n/a	n/a
11	FOXA2	chr10:116249191-116249794	HepG2	liver:	n/a	chr10:116249274-116249286 chr10:116249270-116249282
12	NR2F2	chr10:116249021-116249862	HepG2	liver:	n/a	n/a
13	TCF12	chr10:116249174-116249854	ECC-1	luminal epithelium:	n/a	chr10:116249632-116249640
14	FOSL2	chr10:116249165-116249716	HepG2	liver:	n/a	n/a
15	EP300	chr10:116249073-116249815	HepG2	liver:	n/a	chr10:116249269-116249279
16	FOXA1	chr10:116249121-116249888	HepG2	liver:	n/a	chr10:116249274-116249286 chr10:116249270-116249282
17	HDAC2	chr10:116249102-116249852	HepG2	liver:	n/a	n/a
18	CEBPD	chr10:116249211-116249637	HepG2	liver:	n/a	n/a
19	TCF12	chr10:116249267-116249549	H1-hESC	embryonic stem cell:	n/a	n/a
20	BHLHE40	chr10:116249203-116249767	HepG2	liver:	n/a	n/a
21	TEAD4	chr10:116248821-116250063	HepG2	liver:	n/a	chr10:116249510-116249519
22	RXRA	chr10:116249238-116249855	HepG2	liver:	n/a	n/a
23	USF1	chr10:116249254-116249574	HepG2	liver:	n/a	n/a
24	ELF1	chr10:116249179-116249643	HepG2	liver:	n/a	n/a
25	MBD4	chr10:116249080-116249725	HepG2	liver:	n/a	n/a
26	TCF12	chr10:116249233-116249653	HepG2	liver:	n/a	chr10:116249632-116249640
27	SP1	chr10:116249076-116249815	HepG2	liver:	n/a	n/a
28	TCF7L2	chr10:116249114-116249765	PANC-1	pancreas:	n/a	n/a
29	ARID3A	chr10:116248990-116249888	HepG2	liver:	n/a	n/a
30	EP300	chr10:116248842-116250014	HepG2	liver:	n/a	chr10:116249269-116249279
31	MAFF	chr10:116249289-116249803	HepG2	liver:	n/a	n/a
32	FOXA1	chr10:116249192-116249807	HepG2	liver:	n/a	chr10:116249274-116249286 chr10:116249270-116249282
33	MBD4	chr10:116249197-116249841	HepG2	liver:	n/a	n/a
34	JUND	chr10:116249240-116249732	HepG2	liver:	n/a	n/a
35	HNF4G	chr10:116249129-116249767	HepG2	liver:	n/a	chr10:116249388-116249400 chr10:116249385-116249401
36	JUND	chr10:116249170-116249787	HepG2	liver:	n/a	n/a
37	YY1	chr10:116249225-116249755	H1-hESC	embryonic stem cell:	n/a	n/a
38	HDAC2	chr10:116249109-116249874	HepG2	liver:	n/a	n/a
39	RXRA	chr10:116249220-116249773	HepG2	liver:	n/a	n/a
40	TEAD4	chr10:116249091-116249866	ECC-1	luminal epithelium:	n/a	chr10:116249510-116249519
41	REST	chr10:116249230-116249443	HepG2	liver:	n/a	n/a
42	REST	chr10:116249213-116249764	HepG2	liver:	n/a	n/a
43	TEAD4	chr10:116249238-116249863	ECC-1	luminal epithelium:	n/a	chr10:116249510-116249519
44	RAD21	chr10:116249274-116249512	HepG2	liver:	n/a	chr10:116249387-116249397
45	EP300	chr10:116249158-116249922	HepG2	liver:	n/a	chr10:116249269-116249279
46	MYBL2	chr10:116248856-116249980	HepG2	liver:	n/a	n/a
47	TEAD4	chr10:116249240-116249717	HepG2	liver:	n/a	chr10:116249510-116249519
48	NFIC	chr10:116248916-116249866	HepG2	liver:	n/a	n/a
49	HNF4A	chr10:116249189-116249738	HepG2	liver:	n/a	chr10:116249388-116249400 chr10:116249385-116249401 chr10:116249335-116249350
50	JUND	chr10:116249244-116249632	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
ABLIM1	TF binding region

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11196753	0.91[AMR][1000 genomes]
rs11196758	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11196764	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11196766	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2475224	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2475225	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2475227	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2497679	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2497688	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34374858	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3802737	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9421175	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1037308	chr10:116141946-116519765	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv540780	chr10:116141946-116519765	Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:116194400-116251600	Weak transcription	Small Intestine	intestine
2	chr10:116214600-116263600	Weak transcription	Rectal Smooth Muscle	rectum
3	chr10:116222200-116264400	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr10:116225000-116267200	Weak transcription	Aorta	Aorta
5	chr10:116225600-116278800	Weak transcription	HSMM	muscle
6	chr10:116231200-116251600	Weak transcription	GM12878-XiMat	blood
7	chr10:116238200-116251400	Strong transcription	Primary B cells from peripheral blood	blood
8	chr10:116238400-116251600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr10:116239400-116249400	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr10:116240600-116250400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr10:116241800-116251600	Strong transcription	HSMMtube	muscle
12	chr10:116242400-116250000	Strong transcription	Duodenum Mucosa	Duodenum
13	chr10:116243000-116286200	Weak transcription	Spleen	Spleen
14	chr10:116243400-116251200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr10:116243400-116251600	Strong transcription	Rectal Mucosa Donor 29	rectum
16	chr10:116243800-116252000	Weak transcription	Colon Smooth Muscle	Colon
17	chr10:116244000-116249400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr10:116244000-116249600	Weak transcription	Brain Cingulate Gyrus	brain
19	chr10:116245000-116249400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr10:116245000-116249400	Weak transcription	Gastric	stomach
21	chr10:116245000-116258800	Weak transcription	Colonic Mucosa	Colon
22	chr10:116245200-116249400	Weak transcription	Psoas Muscle	Psoas
23	chr10:116245400-116251400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr10:116245800-116249400	Weak transcription	Fetal Lung	lung
25	chr10:116245800-116249400	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr10:116246000-116249400	Weak transcription	Fetal Brain Male	brain
27	chr10:116246000-116250400	Strong transcription	Primary B cells from cord blood	blood
28	chr10:116246200-116249400	Weak transcription	Brain Anterior Caudate	brain
29	chr10:116246800-116250000	Enhancers	HMEC	breast
30	chr10:116246800-116251200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr10:116246800-116252000	Weak transcription	Primary hematopoietic stem cells	blood
32	chr10:116247000-116251200	Genic enhancers	Primary T helper cells PMA-I stimulated	--
33	chr10:116247000-116255200	Weak transcription	Fetal Kidney	kidney
34	chr10:116247200-116249400	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr10:116247200-116250200	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr10:116247600-116251400	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
37	chr10:116247600-116251400	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr10:116247600-116251400	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr10:116247600-116251600	Weak transcription	Hela-S3	cervix
40	chr10:116247800-116249400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr10:116247800-116249400	Weak transcription	Lung	lung
42	chr10:116247800-116249400	Enhancers	HepG2	liver
43	chr10:116247800-116249600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr10:116247800-116250200	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr10:116247800-116251800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr10:116247800-116252200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr10:116248000-116249400	Weak transcription	Fetal Muscle Trunk	muscle
48	chr10:116248000-116249400	Weak transcription	Right Ventricle	heart
49	chr10:116248000-116249400	Weak transcription	A549	lung
50	chr10:116248000-116251200	Weak transcription	Thymus	Thymus

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