Variant report

Variant	rs34582634
Chromosome Location	chr11:65220206-65220207
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	CEBPB	chr11:65220089-65220236	Hela-S3	cervix:	n/a	chr11:65220109-65220120
2	POLR2A	chr11:65220201-65220480	IMR90	lung:	n/a	n/a
3	SIN3AK20	chr11:65220169-65220496	PFSK-1	brain:	n/a	n/a
4	MAX	chr11:65220128-65220696	SK-N-SH	brain:	n/a	n/a
5	USF1	chr11:65220154-65220511	SK-N-SH_RA	brain:	n/a	n/a
6	POLR2A	chr11:65220131-65220700	SK-N-SH	brain:	n/a	n/a
7	POLR2A	chr11:65219749-65221240	U87	brain:	n/a	n/a
8	SIN3AK20	chr11:65220120-65220404	PFSK-1	brain:	n/a	n/a
9	POLR2A	chr11:65220010-65221032	SK-N-SH	brain:	n/a	n/a
10	FOSL2	chr11:65220204-65221121	SK-N-SH	brain:	n/a	n/a
11	USF1	chr11:65220187-65220531	SK-N-SH	brain:	n/a	n/a
12	RAD21	chr11:65220162-65220578	SK-N-SH_RA	brain:	n/a	n/a
13	CEBPB	chr11:65220098-65220215	A549	lung:	n/a	chr11:65220109-65220120
14	TCF12	chr11:65219871-65221149	SK-N-SH	brain:	n/a	chr11:65220699-65220709
15	NFIC	chr11:65220066-65221003	SK-N-SH	brain:	n/a	n/a
16	PBX3	chr11:65220036-65221065	SK-N-SH	brain:	n/a	n/a
17	TCF12	chr11:65219915-65221094	SK-N-SH	brain:	n/a	chr11:65220699-65220709
18	SIN3AK20	chr11:65220123-65220650	SK-N-SH	brain:	n/a	n/a
19	EP300	chr11:65220097-65220659	SK-N-SH_RA	brain:	n/a	chr11:65220502-65220509
20	POLR2A	chr11:65219867-65221167	U87	brain:	n/a	n/a
21	POLR2A	chr11:65219846-65221167	U87	brain:	n/a	n/a
22	TAF1	chr11:65220203-65220774	PFSK-1	brain:	n/a	n/a
23	EP300	chr11:65220128-65220607	SK-N-SH_RA	brain:	n/a	chr11:65220502-65220509
24	POLR2A	chr11:65220125-65220513	SK-N-MC	brain:	n/a	n/a
25	CEBPB	chr11:65220045-65220245	HepG2	liver:	n/a	chr11:65220109-65220120
26	POLR2A	chr11:65219993-65220851	PFSK-1	brain:	n/a	n/a
27	PBX3	chr11:65220124-65220947	SK-N-SH	brain:	n/a	n/a
28	POLR2A	chr11:65220101-65220783	PFSK-1	brain:	n/a	n/a
29	POLR2A	chr11:65219800-65221139	U87	brain:	n/a	n/a
30	RAD21	chr11:65220151-65220617	SK-N-SH_RA	brain:	n/a	n/a
31	GATA3	chr11:65220114-65220948	SK-N-SH	brain:	n/a	chr11:65220705-65220718

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:65178877..65218546-chr11:65218612..65286191,1014	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AP000769.1-1	chr11:65219924-65221119	NONHSAT022120

Variant related genes	Relation type
ENSG00000173727	TF binding region
ENSG00000245532	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs1075692	0.86[ASN][1000 genomes]
rs10896004	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10896005	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10896006	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10896007	0.84[ASN][1000 genomes]
rs10896008	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10896009	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10896010	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10896012	0.81[ASN][1000 genomes]
rs11227196	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11227197	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11227198	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11227199	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11227200	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11227201	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11227202	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11227205	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11227206	0.88[ASN][1000 genomes]
rs12269965	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12269975	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12294910	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12360896	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12364730	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12788055	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12803915	0.86[ASN][1000 genomes]
rs12808303	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17146964	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2508710	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34512931	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34527830	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34877911	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35292734	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35469818	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35826299	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3825071	0.84[ASN][1000 genomes]
rs4102217	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs57311037	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7128776	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7931615	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7935551	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526181	chr11:64638041-65257329	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1539 gene(s)	inside rSNPs	diseases
2	esv2422285	chr11:65013294-65254540	Genic enhancers Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	474 gene(s)	inside rSNPs	diseases
3	nsv897715	chr11:65083491-65427346	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	984 gene(s)	inside rSNPs	diseases
4	nsv897716	chr11:65083491-65481166	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	999 gene(s)	inside rSNPs	diseases
5	nsv541065	chr11:65117387-65271894	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	835 gene(s)	inside rSNPs	diseases
6	esv1829999	chr11:65136686-65343124	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	963 gene(s)	inside rSNPs	diseases
7	nsv897717	chr11:65140209-65278461	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	942 gene(s)	inside rSNPs	diseases
8	nsv897718	chr11:65140209-65577516	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1003 gene(s)	inside rSNPs	diseases
9	nsv541066	chr11:65142779-65271894	Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	833 gene(s)	inside rSNPs	diseases
10	nsv541067	chr11:65142779-65313799	Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	950 gene(s)	inside rSNPs	diseases
11	nsv541068	chr11:65142779-65331136	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	953 gene(s)	inside rSNPs	diseases
12	nsv541069	chr11:65142779-65368787	Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	965 gene(s)	inside rSNPs	diseases
13	nsv541070	chr11:65142779-65397058	Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent Enhancer Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	972 gene(s)	inside rSNPs	diseases
14	nsv541071	chr11:65142779-65429352	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	984 gene(s)	inside rSNPs	diseases
15	nsv897719	chr11:65157094-65335705	Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	949 gene(s)	inside rSNPs	diseases
16	nsv541072	chr11:65171202-65313799	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	946 gene(s)	inside rSNPs	diseases
17	nsv541073	chr11:65171202-65331136	Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	949 gene(s)	inside rSNPs	diseases
18	nsv541074	chr11:65171202-65368787	Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	961 gene(s)	inside rSNPs	diseases
19	nsv541075	chr11:65210592-65331136	Genic enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	620 gene(s)	inside rSNPs	diseases
20	nsv541076	chr11:65210592-65397058	Flanking Active TSS Genic enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	645 gene(s)	inside rSNPs	diseases
21	nsv897720	chr11:65213434-65445950	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	665 gene(s)	inside rSNPs	diseases
22	esv32703	chr11:65213860-65222026	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65206600-65222000	Weak transcription	Fetal Kidney	kidney
2	chr11:65210000-65222000	Weak transcription	Brain Angular Gyrus	brain
3	chr11:65210000-65222200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr11:65210800-65222000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr11:65211400-65222000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr11:65211600-65221800	Weak transcription	HUVEC	blood vessel
7	chr11:65212200-65221800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr11:65212200-65222000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr11:65212200-65222200	Weak transcription	Liver	Liver
10	chr11:65212400-65222000	Weak transcription	Primary hematopoietic stem cells	blood
11	chr11:65212400-65222000	Weak transcription	Aorta	Aorta
12	chr11:65212400-65222000	Weak transcription	Fetal Lung	lung
13	chr11:65212600-65222000	Weak transcription	Brain Anterior Caudate	brain
14	chr11:65212800-65221800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr11:65212800-65222000	Weak transcription	Primary T cells from cord blood	blood
16	chr11:65212800-65222000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr11:65212800-65222200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr11:65212800-65222400	Weak transcription	Stomach Mucosa	stomach
19	chr11:65213000-65221800	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr11:65213000-65222000	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr11:65213200-65221800	Weak transcription	Duodenum Mucosa	Duodenum
22	chr11:65213400-65222000	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr11:65213400-65222000	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr11:65213800-65222000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr11:65213800-65222200	Weak transcription	Gastric	stomach
26	chr11:65213800-65222200	Weak transcription	Pancreas	Pancrea
27	chr11:65214000-65221800	Weak transcription	Right Atrium	heart
28	chr11:65214200-65220400	Weak transcription	Lung	lung
29	chr11:65214200-65222000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr11:65214200-65222000	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr11:65214200-65222200	Weak transcription	Colon Smooth Muscle	Colon
32	chr11:65214400-65221800	Weak transcription	Thymus	Thymus
33	chr11:65214400-65221800	Weak transcription	Spleen	Spleen
34	chr11:65214400-65222000	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr11:65214400-65222200	Weak transcription	Brain Cingulate Gyrus	brain
36	chr11:65214400-65222200	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr11:65214600-65221400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr11:65214600-65221400	Weak transcription	Colonic Mucosa	Colon
39	chr11:65214600-65221400	Weak transcription	Right Ventricle	heart
40	chr11:65214600-65221800	Weak transcription	Ovary	ovary
41	chr11:65214600-65222000	Weak transcription	Brain Substantia Nigra	brain
42	chr11:65214600-65222000	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr11:65214600-65222000	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr11:65214800-65221800	Weak transcription	Stomach Smooth Muscle	stomach
45	chr11:65214800-65222000	Weak transcription	Brain Hippocampus Middle	brain
46	chr11:65216200-65220400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr11:65216400-65220400	Weak transcription	Fetal Muscle Trunk	muscle
48	chr11:65216400-65221600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr11:65216600-65220400	Weak transcription	A549	lung
50	chr11:65216600-65221800	Weak transcription	Primary B cells from peripheral blood	blood

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