Variant report

Variant	rs3802829
Chromosome Location	chr11:101454192-101454193
allele	A/G
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	CTCF	chr11:101454117-101454317	IMR90	lung:	n/a	n/a
2	POLR2A	chr11:101453820-101454252	H1-neurons	neurons:	n/a	n/a
3	RAD21	chr11:101453960-101454905	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr11:101453602-101454192	H1-neurons	neurons:	n/a	n/a
5	SIN3A	chr11:101453930-101454815	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTCF	chr11:101454060-101454210	SAEC	small airway:	n/a	n/a
7	CHD1	chr11:101454054-101454582	H1-hESC	embryonic stem cell:	n/a	chr11:101454269-101454279
8	POLR2A	chr11:101453931-101454211	MCF-7	breast:	n/a	n/a
9	CTBP2	chr11:101453612-101454851	H1-hESC	embryonic stem cell:	n/a	n/a
10	CTCF	chr11:101454141-101454226	MCF-7	breast:	n/a	n/a
11	TBP	chr11:101453997-101454908	H1-hESC	embryonic stem cell:	n/a	n/a
12	MAX	chr11:101453948-101454949	A549	lung:	n/a	chr11:101454866-101454875
13	BACH1	chr11:101453804-101454530	H1-hESC	embryonic stem cell:	n/a	n/a
14	MAX	chr11:101453948-101454573	A549	lung:	n/a	n/a
15	RAD21	chr11:101454151-101454901	H1-hESC	embryonic stem cell:	n/a	n/a
16	E2F6	chr11:101453986-101455042	H1-hESC	embryonic stem cell:	n/a	n/a
17	RAD21	chr11:101453468-101454194	IMR90	lung:	n/a	n/a
18	POLR2A	chr11:101454186-101454415	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
ENSG00000254506	TF binding region

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10501985	0.97[ASN][1000 genomes]
rs10895146	0.97[ASN][1000 genomes]
rs10895147	0.97[ASN][1000 genomes]
rs11224858	0.81[EUR][1000 genomes]
rs11224862	0.81[EUR][1000 genomes]
rs11224866	0.97[ASN][1000 genomes]
rs11224867	0.94[ASN][1000 genomes]
rs11224868	0.94[ASN][1000 genomes]
rs11224869	0.97[ASN][1000 genomes]
rs11224871	0.97[ASN][1000 genomes]
rs11224872	0.97[ASN][1000 genomes]
rs11224876	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11224879	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11224883	0.84[ASN][1000 genomes]
rs11224894	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11224898	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11224901	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11224952	0.92[AMR][1000 genomes]
rs11224955	0.84[AMR][1000 genomes]
rs11224956	0.84[AMR][1000 genomes]
rs11224958	0.84[AMR][1000 genomes]
rs11224961	0.80[AMR][1000 genomes]
rs11224963	0.80[AMR][1000 genomes]
rs11224967	0.80[AMR][1000 genomes]
rs11493972	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11512501	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11512686	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11606771	0.97[ASN][1000 genomes]
rs12146595	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12275413	0.97[ASN][1000 genomes]
rs12361061	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12363566	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12364156	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12364903	0.81[EUR][1000 genomes]
rs12366048	0.97[ASN][1000 genomes]
rs12789602	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12790768	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12796392	0.81[EUR][1000 genomes]
rs12796523	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12796974	0.81[EUR][1000 genomes]
rs12797777	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12802694	0.80[AMR][1000 genomes]
rs34013568	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34159741	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34209047	0.80[AMR][1000 genomes]
rs35456437	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3824935	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3922961	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4378349	0.97[ASN][1000 genomes]
rs4379797	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4394815	0.97[ASN][1000 genomes]
rs4406798	0.97[ASN][1000 genomes]
rs4556510	0.97[ASN][1000 genomes]
rs66732103	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7103450	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7109847	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7120953	0.97[ASN][1000 genomes]
rs7121108	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7126833	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7129904	0.97[ASN][1000 genomes]
rs72976306	0.88[AMR][1000 genomes]
rs7479835	0.97[ASN][1000 genomes]
rs7938938	0.97[ASN][1000 genomes]
rs7951517	0.97[ASN][1000 genomes]
rs7952280	0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv556131	chr11:100985777-101480017	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
2	nsv530644	chr11:101010088-101486038	Strong transcription Weak transcription Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
3	nsv898330	chr11:101243644-101722031	Enhancers Bivalent/Poised TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
4	esv2754308	chr11:101409790-101502790	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv898331	chr11:101436689-101492630	Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1052159	chr11:101439655-101853293	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv1051457	chr11:101446705-101837650	Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv530645	chr11:101451416-101778666	Bivalent/Poised TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:101452200-101455200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
2	chr11:101452200-101455600	Active TSS	Breast Myoepithelial Primary Cells	Breast
3	chr11:101452400-101454800	Active TSS	Right Atrium	heart
4	chr11:101452400-101455200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr11:101452600-101454600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
6	chr11:101452600-101455000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
7	chr11:101452800-101454600	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
8	chr11:101452800-101454800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
9	chr11:101452800-101454800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
10	chr11:101452800-101455000	Active TSS	Rectal Smooth Muscle	rectum
11	chr11:101452800-101455200	Active TSS	Ovary	ovary
12	chr11:101452800-101455400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
13	chr11:101452800-101455600	Active TSS	Brain Anterior Caudate	brain
14	chr11:101453000-101454200	Bivalent/Poised TSS	Right Ventricle	heart
15	chr11:101453000-101454400	Bivalent/Poised TSS	Muscle Satellite Cultured Cells	--
16	chr11:101453000-101454400	Bivalent/Poised TSS	Esophagus	oesophagus
17	chr11:101453000-101454400	Bivalent/Poised TSS	NHLF	lung
18	chr11:101453000-101454600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
19	chr11:101453000-101454600	Active TSS	Pancreatic Islets	Pancreatic Islet
20	chr11:101453000-101454600	Active TSS	Rectal Mucosa Donor 31	rectum
21	chr11:101453000-101454800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
22	chr11:101453000-101454800	Active TSS	Duodenum Mucosa	Duodenum
23	chr11:101453000-101454800	Bivalent/Poised TSS	Fetal Intestine Large	intestine
24	chr11:101453000-101454800	Bivalent/Poised TSS	Osteobl	bone
25	chr11:101453000-101455000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
26	chr11:101453000-101455000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr11:101453000-101455000	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr11:101453000-101455000	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr11:101453000-101455000	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
30	chr11:101453000-101455400	Active TSS	Colon Smooth Muscle	Colon
31	chr11:101453200-101454600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr11:101453200-101454600	Bivalent/Poised TSS	Psoas Muscle	Psoas
33	chr11:101453200-101454800	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr11:101453200-101454800	Active TSS	Aorta	Aorta
35	chr11:101453200-101455000	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
36	chr11:101453200-101455200	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
37	chr11:101453200-101455200	Bivalent/Poised TSS	NHEK	skin
38	chr11:101453400-101454400	Active TSS	Gastric	stomach
39	chr11:101453400-101454600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr11:101453400-101454600	Bivalent Enhancer	Liver	Liver
41	chr11:101453400-101454600	Bivalent/Poised TSS	Colonic Mucosa	Colon
42	chr11:101453400-101454600	Bivalent/Poised TSS	NH-A	brain
43	chr11:101453400-101454800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr11:101453400-101454800	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr11:101453400-101454800	Flanking Active TSS	Pancreas	Pancrea
46	chr11:101453400-101455000	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr11:101453400-101455000	Bivalent/Poised TSS	Brain Angular Gyrus	brain
48	chr11:101453400-101455000	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
49	chr11:101453600-101454400	Bivalent/Poised TSS	Sigmoid Colon	Sigmoid Colon
50	chr11:101453600-101454600	ZNF genes & repeats	Spleen	Spleen

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