Variant report

Variant	rs7945726
Chromosome Location	chr11:8190057-8190058
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:61)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:61 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr11:8190040-8190190	GM06990	blood:	n/a	n/a
2	CTCF	chr11:8190040-8190190	GM12867	blood:	n/a	n/a
3	CEBPB	chr11:8190037-8190693	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTCF	chr11:8190040-8190190	HEK293	kidney:	n/a	n/a
5	REST	chr11:8189901-8190252	SK-N-SH	brain:	n/a	n/a
6	ZNF263	chr11:8189910-8190770	HEK293-T-REx	kidney:	n/a	n/a
7	POLR2A	chr11:8189951-8190870	H1-neurons	neurons:	n/a	n/a
8	TAF1	chr11:8190037-8190837	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr11:8190038-8190786	H1-hESC	embryonic stem cell:	n/a	n/a
10	CTCF	chr11:8190020-8190170	GM12871	blood:	n/a	n/a
11	CTCF	chr11:8190040-8190190	NHEK	skin:	n/a	n/a
12	MAX	chr11:8189926-8190943	H1-hESC	embryonic stem cell:	n/a	n/a
13	TAF1	chr11:8190045-8190907	H1-neurons	neurons:	n/a	n/a
14	CTCF	chr11:8190053-8190349	GM12891	blood:	n/a	n/a
15	POLR2A	chr11:8189770-8190959	H1-hESC	embryonic stem cell:	n/a	n/a
16	MYC	chr11:8190021-8190797	H1-hESC	embryonic stem cell:	n/a	n/a
17	REST	chr11:8190020-8190779	SK-N-SH	brain:	n/a	chr11:8190625-8190638
18	USF1	chr11:8189902-8190263	SK-N-SH_RA	brain:	n/a	n/a
19	REST	chr11:8189096-8190306	HL-60	blood:	n/a	n/a
20	BACH1	chr11:8189998-8190845	H1-hESC	embryonic stem cell:	n/a	n/a
21	REST	chr11:8189302-8191047	H1-neurons	neurons:	n/a	chr11:8190625-8190638
22	CTCF	chr11:8189980-8190130	GM12864	blood:	n/a	n/a
23	CREB1	chr11:8189905-8190874	H1-hESC	embryonic stem cell:	n/a	n/a
24	GATA2	chr11:8190042-8190747	SH-SY5Y	brain:	n/a	chr11:8190235-8190244
25	CTCF	chr11:8190040-8190190	GM12871	blood:	n/a	n/a
26	CHD1	chr11:8189766-8190124	GM12878	blood:	n/a	n/a
27	CTCF	chr11:8189980-8190130	BE2_C	brain:	n/a	n/a
28	RAD21	chr11:8190007-8190376	H1-hESC	embryonic stem cell:	n/a	chr11:8190225-8190238
29	CTCF	chr11:8190040-8190190	SAEC	small airway:	n/a	n/a
30	CREB1	chr11:8189902-8190900	H1-hESC	embryonic stem cell:	n/a	n/a
31	E2F6	chr11:8189939-8190941	H1-hESC	embryonic stem cell:	n/a	chr11:8190624-8190633
32	MAX	chr11:8190052-8190912	A549	lung:	n/a	n/a
33	MXI1	chr11:8189944-8190805	H1-hESC	embryonic stem cell:	n/a	n/a
34	CTCF	chr11:8190020-8190170	BE2_C	brain:	n/a	n/a
35	CTCF	chr11:8190015-8190308	GM12878	blood:	n/a	n/a
36	POLR2A	chr11:8190048-8191050	GM12891	blood:	n/a	n/a
37	CTCF	chr11:8189940-8190090	GM12875	blood:	n/a	n/a
38	MXI1	chr11:8189243-8191706	SK-N-SH	brain:	n/a	n/a
39	ATF2	chr11:8189910-8190353	H1-hESC	embryonic stem cell:	n/a	n/a
40	ZNF143	chr11:8190026-8190287	GM12878	blood:	n/a	n/a
41	MAX	chr11:8189937-8190844	H1-hESC	embryonic stem cell:	n/a	n/a
42	SIN3AK20	chr11:8189999-8190784	H1-hESC	embryonic stem cell:	n/a	n/a
43	TBP	chr11:8189996-8190785	H1-hESC	embryonic stem cell:	n/a	n/a
44	POLR2A	chr11:8189906-8190841	H1-hESC	embryonic stem cell:	n/a	n/a
45	USF1	chr11:8189945-8190219	H1-hESC	embryonic stem cell:	n/a	n/a
46	CTCF	chr11:8190040-8190190	GM12878	blood:	n/a	n/a
47	POLR2A	chr11:8189825-8190986	H1-hESC	embryonic stem cell:	n/a	n/a
48	CTCF	chr11:8189920-8190070	RPTEC	kidney:	n/a	n/a
49	MAX	chr11:8189911-8190865	H1-hESC	embryonic stem cell:	n/a	n/a
50	E2F6	chr11:8189867-8190885	H1-hESC	embryonic stem cell:	n/a	chr11:8190624-8190633

No data

Variant related genes	Relation type
ENSG00000246820	TF binding region

Extended variants
information (count: 39 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs11041744	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11041745	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11041748	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11041750	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11041751	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11041753	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11041755	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11041758	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap]
rs11041760	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11041761	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11041762	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11041769	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11041770	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11041771	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11041777	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12360649	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12361499	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12362369	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12363297	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12363594	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17847552	0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs17847553	0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs17847554	0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2242504	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs4758302	1.00[CEU][hapmap];0.82[JPT][hapmap]
rs56740207	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs58706265	0.91[ASN][1000 genomes]
rs59934287	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73409635	0.83[ASN][1000 genomes]
rs73409661	0.96[ASN][1000 genomes]
rs73411617	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73411659	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7946652	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MKK][hapmap];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7948279	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1829170	chr11:8068594-8216369	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv428249	chr11:8068594-8216369	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv1048537	chr11:8137353-8196203	Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv896981	chr11:8152080-8227964	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv1054339	chr11:8153582-8263173	Bivalent Enhancer Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7945726	RIC3	cis	multi-tissue	Pritchard
rs7945726	RIC3	cis	Liver	GTEx

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8189400-8190200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
2	chr11:8189400-8190200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr11:8189400-8190200	Flanking Active TSS	Stomach Smooth Muscle	stomach
4	chr11:8189400-8190600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:8189400-8191000	Active TSS	iPS-15b Cell Line	embryonic stem cell
6	chr11:8189400-8191200	Active TSS	H9 Cell Line	embryonic stem cell
7	chr11:8189400-8191400	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr11:8189400-8191400	Active TSS	H1 Cell Line	embryonic stem cell
9	chr11:8189400-8191400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
10	chr11:8189600-8190200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr11:8189600-8190200	Active TSS	Duodenum Smooth Muscle	Duodenum
12	chr11:8189600-8190400	Active TSS	Right Ventricle	heart
13	chr11:8189600-8190600	Active TSS	Ovary	ovary
14	chr11:8189600-8190800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr11:8189600-8191000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
16	chr11:8189600-8191000	Active TSS	Breast Myoepithelial Primary Cells	Breast
17	chr11:8189600-8191000	Bivalent/Poised TSS	Fetal Kidney	kidney
18	chr11:8189600-8191000	Active TSS	Rectal Smooth Muscle	rectum
19	chr11:8189600-8191200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr11:8189600-8191200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr11:8189600-8191200	Bivalent/Poised TSS	Fetal Brain Female	brain
22	chr11:8189600-8191400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
23	chr11:8189600-8191400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
24	chr11:8189600-8191400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr11:8189600-8191400	Active TSS	GM12878-XiMat	blood
26	chr11:8189800-8190200	Flanking Active TSS	Primary B cells from peripheral blood	blood
27	chr11:8189800-8190200	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
28	chr11:8189800-8190200	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
29	chr11:8189800-8190200	Active TSS	Colonic Mucosa	Colon
30	chr11:8189800-8190200	Bivalent/Poised TSS	Fetal Stomach	stomach
31	chr11:8189800-8190200	Active TSS	Psoas Muscle	Psoas
32	chr11:8189800-8190200	Flanking Bivalent TSS/Enh	NHEK	skin
33	chr11:8189800-8190400	Active TSS	HUES64 Cell Line	embryonic stem cell
34	chr11:8189800-8190400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr11:8189800-8190600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
36	chr11:8189800-8190800	Bivalent/Poised TSS	Primary B cells from cord blood	blood
37	chr11:8189800-8190800	Active TSS	Primary T helper naive cells from peripheral blood	blood
38	chr11:8189800-8190800	Active TSS	Colon Smooth Muscle	Colon
39	chr11:8189800-8191000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr11:8189800-8191000	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr11:8189800-8191000	Active TSS	iPS-18 Cell Line	embryonic stem cell
42	chr11:8189800-8191000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
43	chr11:8189800-8191000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
44	chr11:8189800-8191000	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
45	chr11:8189800-8191000	Active TSS	Brain Angular Gyrus	brain
46	chr11:8189800-8191000	Active TSS	Brain Hippocampus Middle	brain
47	chr11:8189800-8191000	Active TSS	Brain Inferior Temporal Lobe	brain
48	chr11:8189800-8191000	Active TSS	Brain Substantia Nigra	brain
49	chr11:8189800-8191000	Active TSS	Pancreatic Islets	Pancreatic Islet
50	chr11:8189800-8191200	Bivalent/Poised TSS	Primary T regulatory cells fromperipheralblood	blood

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