Variant report

Variant	rs57582926
Chromosome Location	chr11:71524684-71524685
allele	C/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	HEY1	chr11:71524623-71525104	HepG2	liver:	n/a	n/a
2	POLR2A	chr11:71524522-71525154	GM12891	blood:	n/a	n/a
3	POLR2A	chr11:71524667-71525046	MCF-7	breast:	n/a	n/a
4	POLR2A	chr11:71524667-71525031	HepG2	liver:	n/a	n/a
5	POLR2A	chr11:71524585-71525011	U87	brain:	n/a	n/a
6	PML	chr11:71524663-71525108	GM12878	blood:	n/a	n/a
7	FOXM1	chr11:71524657-71525111	GM12878	blood:	n/a	n/a
8	POLR2A	chr11:71524519-71524992	HUVEC	blood vessel:	n/a	n/a
9	POLR2A	chr11:71524666-71525069	GM12892	blood:	n/a	n/a
10	POLR2A	chr11:71524597-71525074	SK-N-SH	brain:	n/a	n/a
11	CTCF	chr11:71524541-71525170	A549	lung:	n/a	chr11:71524959-71524975 chr11:71524973-71524994 chr11:71524958-71524976 chr11:71524971-71524989 chr11:71524953-71524974
12	MAZ	chr11:71524568-71525108	IMR90	lung:	n/a	n/a
13	POLR2A	chr11:71524641-71524721	HUVEC	blood vessel:	n/a	n/a
14	POLR2A	chr11:71524684-71525051	MCF10A-Er-Src	breast:	n/a	n/a
15	POLR2A	chr11:71524325-71525026	GM12878	blood:	n/a	n/a
16	POLR2A	chr11:71524528-71525155	HUVEC	blood vessel:	n/a	n/a
17	YY1	chr11:71524640-71524967	A549	lung:	n/a	n/a
18	TCF12	chr11:71524549-71524844	GM12878	blood:	n/a	n/a
19	POLR2A	chr11:71524587-71525063	GM18951	blood:	n/a	n/a
20	POLR2A	chr11:71524603-71525048	GM12891	blood:	n/a	n/a
21	POLR2A	chr11:71524667-71524995	H1-neurons	neurons:	n/a	n/a
22	POLR2A	chr11:71524612-71525037	GM12891	blood:	n/a	n/a
23	POLR2A	chr11:71524160-71525074	GM12892	blood:	n/a	n/a
24	POLR2A	chr11:71524220-71525096	H1-hESC	embryonic stem cell:	n/a	n/a
25	EBF1	chr11:71524638-71525103	GM12878	blood:	n/a	chr11:71524887-71524898
26	JUND	chr11:71524599-71525071	A549	lung:	n/a	n/a
27	EBF1	chr11:71524527-71525133	GM12878	blood:	n/a	chr11:71524887-71524898
28	POLR2A	chr11:71524647-71525093	A549	lung:	n/a	n/a
29	SMC3	chr11:71524487-71525165	SK-N-SH	brain:	n/a	chr11:71524960-71524974
30	POLR2A	chr11:71524592-71525029	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr11:71524219-71525043	H1-hESC	embryonic stem cell:	n/a	n/a
32	RAD21	chr11:71524676-71525141	H1-hESC	embryonic stem cell:	n/a	chr11:71524956-71524975 chr11:71524972-71524991
33	CTCF	chr11:71524579-71525282	A549	lung:	n/a	chr11:71524959-71524975 chr11:71524973-71524994 chr11:71524958-71524976 chr11:71524971-71524989 chr11:71524953-71524974
34	POLR2A	chr11:71524601-71525098	GM12892	blood:	n/a	n/a
35	POLR2A	chr11:71524144-71525186	H1-hESC	embryonic stem cell:	n/a	n/a
36	CTCF	chr11:71524575-71525230	SK-N-SH	brain:	n/a	chr11:71524959-71524975 chr11:71524973-71524994 chr11:71524958-71524976 chr11:71524971-71524989 chr11:71524953-71524974
37	PAX5	chr11:71524624-71524783	GM12878	blood:	n/a	n/a
38	NRF1	chr11:71524452-71525157	SK-N-SH	brain:	n/a	n/a
39	CTCF	chr11:71524630-71525108	A549	lung:	n/a	chr11:71524959-71524975 chr11:71524973-71524994 chr11:71524958-71524976 chr11:71524971-71524989 chr11:71524953-71524974
40	POLR2A	chr11:71524642-71525062	MCF-7	breast:	n/a	n/a
41	POU2F2	chr11:71524161-71525205	GM12878	blood:	n/a	chr11:71524177-71524199
42	POLR2A	chr11:71524168-71525169	GM12892	blood:	n/a	n/a
43	POLR2A	chr11:71524643-71525034	H1-hESC	embryonic stem cell:	n/a	n/a
44	POLR2A	chr11:71524587-71525009	A549	lung:	n/a	n/a
45	POLR2A	chr11:71524658-71525060	GM18505	blood:	n/a	n/a
46	POLR2A	chr11:71524684-71525062	GM12878	blood:	n/a	n/a
47	CTCF	chr11:71524560-71524710	GM12871	blood:	n/a	n/a
48	TCF3	chr11:71524518-71524918	GM12878	blood:	n/a	n/a
49	POLR2A	chr11:71524546-71525075	A549	lung:	n/a	n/a
50	TAF1	chr11:71524573-71525059	A549	lung:	n/a	n/a

Variant related genes	Relation type
ENSG00000248671	TF binding region

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs61239579	0.80[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:34 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530623	chr11:71088949-72020418	Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	134 gene(s)	inside rSNPs	diseases
2	nsv1037088	chr11:71293875-71538991	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	esv3527986	chr11:71298409-71620955	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
4	esv3527987	chr11:71298409-71620955	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
5	nsv1041027	chr11:71299175-71527896	Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv1051879	chr11:71299175-71536860	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
7	nsv1044041	chr11:71299175-71538991	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
8	esv2761682	chr11:71299175-71619923	Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
9	nsv897904	chr11:71316093-71615727	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
10	nsv972041	chr11:71330518-71615123	Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
11	esv3369013	chr11:71338874-71612242	Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
12	nsv1054575	chr11:71352127-71536860	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
13	nsv1047568	chr11:71352127-71538991	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
14	nsv427893	chr11:71363639-71529688	Active TSS Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
15	esv2758276	chr11:71363639-71657576	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
16	esv2759836	chr11:71363639-71657576	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
17	nsv428262	chr11:71363639-71804055	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases
18	nsv1049480	chr11:71363999-71533919	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
19	nsv897905	chr11:71371354-71615727	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
20	esv1819073	chr11:71371742-71618164	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
21	nsv1044072	chr11:71379653-71527699	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
22	nsv1038551	chr11:71379653-71533919	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
23	nsv897906	chr11:71386905-71543708	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
24	nsv897907	chr11:71386905-71549174	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
25	nsv1045511	chr11:71395657-71527896	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
26	nsv1043197	chr11:71423465-71527699	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
27	nsv1037092	chr11:71443870-71527699	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
28	esv11723	chr11:71498860-71553549	Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
29	esv1804003	chr11:71512115-71563035	Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region CpG island lncRNA	7 gene(s)	inside rSNPs	diseases
30	esv2760190	chr11:71513455-71552665	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region CpG island lncRNA	5 gene(s)	inside rSNPs	diseases
31	esv11824	chr11:71515433-71603968	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island lncRNA	11 gene(s)	inside rSNPs	diseases
32	nsv8837	chr11:71517340-71559915	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region CpG island lncRNA	6 gene(s)	inside rSNPs	diseases
33	esv1794199	chr11:71517609-71550455	Weak transcription Active TSS Flanking Active TSS Enhancers	TF binding region CpG island lncRNA	5 gene(s)	inside rSNPs	diseases
34	esv1803631	chr11:71521288-71560091	Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71523600-71525000	Active TSS	Brain Hippocampus Middle	brain
2	chr11:71523600-71525000	Active TSS	Stomach Smooth Muscle	stomach
3	chr11:71524200-71525000	Active TSS	H1 Cell Line	embryonic stem cell
4	chr11:71524200-71525000	Active TSS	HUES64 Cell Line	embryonic stem cell
5	chr11:71524200-71525000	Active TSS	iPS-18 Cell Line	embryonic stem cell
6	chr11:71524200-71525000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr11:71524200-71525000	Active TSS	Breast Myoepithelial Primary Cells	Breast
8	chr11:71524200-71525000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr11:71524200-71525000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr11:71524200-71525200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr11:71524400-71524800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
12	chr11:71524400-71524800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr11:71524400-71524800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr11:71524400-71524800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
15	chr11:71524400-71524800	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
16	chr11:71524400-71524800	Active TSS	Aorta	Aorta
17	chr11:71524400-71524800	Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr11:71524400-71524800	Flanking Active TSS	Dnd41	blood
19	chr11:71524400-71524800	Active TSS	GM12878-XiMat	blood
20	chr11:71524400-71524800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
21	chr11:71524400-71525000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr11:71524400-71525000	Active TSS	H9 Cell Line	embryonic stem cell
23	chr11:71524400-71525000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr11:71524400-71525000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr11:71524400-71525000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr11:71524400-71525000	Active TSS	HUES48 Cell Line	embryonic stem cell
27	chr11:71524400-71525000	Active TSS	HUES6 Cell Line	embryonic stem cell
28	chr11:71524400-71525000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr11:71524400-71525000	Active TSS	iPS-15b Cell Line	embryonic stem cell
30	chr11:71524400-71525000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr11:71524400-71525000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr11:71524400-71525000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr11:71524400-71525000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr11:71524400-71525000	Active TSS	Primary monocytes fromperipheralblood	blood
35	chr11:71524400-71525000	Active TSS	Primary neutrophils fromperipheralblood	blood
36	chr11:71524400-71525000	Active TSS	Primary B cells from peripheral blood	blood
37	chr11:71524400-71525000	Active TSS	Primary hematopoietic stem cells	blood
38	chr11:71524400-71525000	Active TSS	Primary hematopoietic stem cells short term culture	blood
39	chr11:71524400-71525000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
40	chr11:71524400-71525000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
41	chr11:71524400-71525000	Active TSS	Primary T helper cells PMA-I stimulated	--
42	chr11:71524400-71525000	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
43	chr11:71524400-71525000	Active TSS	Primary T helper cells fromperipheralblood	blood
44	chr11:71524400-71525000	Active TSS	Primary T regulatory cells fromperipheralblood	blood
45	chr11:71524400-71525000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr11:71524400-71525000	Active TSS	Primary T killer memory cells from peripheral blood	blood
47	chr11:71524400-71525000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr11:71524400-71525000	Active TSS	Muscle Satellite Cultured Cells	--
49	chr11:71524400-71525000	Active TSS	Cortex derived primary cultured neurospheres	brain
50	chr11:71524400-71525000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain

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