Variant report

Variant	rs571212770
Chromosome Location	chr11:65407037-65407038
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	EP300	chr11:65407024-65408168	GM12878	blood:	n/a	n/a
2	MTA3	chr11:65407000-65408169	GM12878	blood:	n/a	n/a
3	STAT5A	chr11:65406924-65408527	GM12878	blood:	n/a	chr11:65407702-65407709
4	NFATC1	chr11:65407020-65407864	GM12878	blood:	n/a	n/a
5	POLR2A	chr11:65407024-65407875	GM12891	blood:	n/a	n/a
6	EBF1	chr11:65406946-65408314	GM12878	blood:	n/a	chr11:65407865-65407874 chr11:65407820-65407831 chr11:65407865-65407875 chr11:65407864-65407875 chr11:65407822-65407831
7	FOXM1	chr11:65407013-65408295	GM12878	blood:	n/a	n/a
8	POLR2A	chr11:65407027-65407604	GM12891	blood:	n/a	n/a
9	EBF1	chr11:65406995-65408837	GM12878	blood:	n/a	chr11:65407865-65407874 chr11:65407820-65407831 chr11:65407865-65407875 chr11:65407864-65407875 chr11:65407822-65407831
10	BCLAF1	chr11:65407022-65408134	GM12878	blood:	n/a	n/a
11	NFIC	chr11:65407030-65408155	GM12878	blood:	n/a	n/a
12	PML	chr11:65406821-65408312	GM12878	blood:	n/a	n/a
13	RUNX3	chr11:65407034-65408591	GM12878	blood:	n/a	n/a
14	TCF3	chr11:65406912-65407843	GM12878	blood:	n/a	chr11:65407199-65407212 chr11:65407334-65407344
15	POLR2A	chr11:65407034-65407663	U87	brain:	n/a	n/a
16	PAX5	chr11:65406909-65408391	GM12878	blood:	n/a	n/a
17	BCL11A	chr11:65406995-65407516	GM12878	blood:	n/a	n/a
18	BHLHE40	chr11:65406999-65408049	GM12878	blood:	n/a	n/a
19	YY1	chr11:65407009-65407521	GM12878	blood:	n/a	n/a
20	TCF12	chr11:65407033-65407511	GM12878	blood:	n/a	n/a
21	POLR2A	chr11:65406836-65409035	GM12892	blood:	n/a	n/a
22	ELF1	chr11:65407022-65409231	GM12878	blood:	n/a	n/a
23	POLR2A	chr11:65406766-65408485	GM12878	blood:	n/a	n/a
24	POLR2A	chr11:65406943-65408309	GM12878	blood:	n/a	n/a
25	POLR2A	chr11:65406983-65408265	GM12892	blood:	n/a	n/a
26	FOXM1	chr11:65406988-65407863	GM12878	blood:	n/a	n/a
27	POLR2A	chr11:65407035-65408858	HL-60	blood:	n/a	n/a
28	TBP	chr11:65407022-65408099	GM12878	blood:	n/a	n/a
29	POLR2A	chr11:65406996-65408787	GM12878	blood:	n/a	n/a
30	POLR2A	chr11:65406884-65408329	GM12891	blood:	n/a	n/a
31	POLR2A	chr11:65406981-65408397	GM18526	blood:	n/a	n/a
32	POLR2A	chr11:65407024-65408229	GM12891	blood:	n/a	n/a
33	POU2F2	chr11:65406884-65408296	GM12878	blood:	n/a	chr11:65408122-65408134
34	POU2F2	chr11:65407025-65407537	GM12878	blood:	n/a	n/a
35	NFATC1	chr11:65406931-65408297	GM12878	blood:	n/a	n/a
36	POLR2A	chr11:65406835-65409596	GM12892	blood:	n/a	n/a
37	IRF4	chr11:65406958-65407474	GM12878	blood:	n/a	n/a
38	BCLAF1	chr11:65407031-65407756	GM12878	blood:	n/a	n/a
39	POLR2A	chr11:65406957-65408993	GM12878	blood:	n/a	n/a
40	CHD2	chr11:65407034-65408223	GM12878	blood:	n/a	n/a
41	POLR2A	chr11:65406938-65408082	GM12892	blood:	n/a	n/a
42	POLR2A	chr11:65406947-65408310	GM19099	blood:	n/a	n/a
43	POLR2A	chr11:65405215-65408445	GM12878	blood:	n/a	n/a
44	POLR2A	chr11:65404870-65410346	GM12878	blood:	n/a	n/a
45	POLR2A	chr11:65406949-65408041	Raji	blood:	n/a	n/a
46	POLR2A	chr11:65407028-65407552	U87	brain:	n/a	n/a
47	MTA3	chr11:65406838-65408626	GM12878	blood:	n/a	n/a
48	POLR2A	chr11:65407014-65408407	GM15510	blood:	n/a	n/a
49	SP1	chr11:65407012-65408016	GM12878	blood:	n/a	chr11:65407843-65407853 chr11:65407842-65407854 chr11:65407022-65407036 chr11:65407659-65407673 chr11:65407839-65407853 chr11:65407028-65407042
50	EP300	chr11:65407035-65407426	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:65405500..65407998-chr11:65624581..65626384,2	K562	blood:
2	chr11:65380696..65385200-chr11:65403578..65408941,10	MCF-7	breast:
3	chr11:65344954..65347846-chr11:65406029..65407585,2	MCF-7	breast:
4	chr11:65406543..65408772-chr19:38780595..38783579,2	MCF-7	breast:

Variant related genes	Relation type
SIPA1	TF binding region
ENSG00000172732	Chromatin interaction
ENSG00000172757	Chromatin interaction
ENSG00000173442	Chromatin interaction
ENSG00000173327	Chromatin interaction
ENSG00000167642	Chromatin interaction
ENSG00000197136	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	nsv897721	chr11:65278461-65422853	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
7	nsv897722	chr11:65278461-65436888	Genic enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	102 gene(s)	inside rSNPs	diseases
8	nsv897723	chr11:65294830-65481166	Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
9	nsv468599	chr11:65335705-65427346	ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
10	nsv555213	chr11:65335705-65427346	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
11	nsv897732	chr11:65335705-65427346	Enhancers Genic enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
12	nsv468600	chr11:65335705-65431360	Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
13	nsv555214	chr11:65335705-65431360	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
14	nsv897733	chr11:65335705-65431360	Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
15	nsv897734	chr11:65335705-65436888	Flanking Active TSS Enhancers Genic enhancers Active TSS ZNF genes & repeats Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
16	nsv897735	chr11:65335705-65481166	Flanking Active TSS Enhancers Strong transcription Genic enhancers Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
17	nsv897736	chr11:65335705-65676516	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' 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	227 gene(s)	inside rSNPs	diseases
18	nsv897746	chr11:65349756-65427346	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
19	nsv897747	chr11:65353906-65481166	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
20	esv1831135	chr11:65387352-65420872	Strong transcription Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	43 gene(s)	inside rSNPs	diseases
21	nsv897748	chr11:65392695-65466911	Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
22	nsv897749	chr11:65401748-65420760	Active TSS Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA	39 gene(s)	inside rSNPs	diseases
23	nsv897750	chr11:65401748-65421476	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
24	nsv897751	chr11:65401748-65425167	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
25	nsv897752	chr11:65405300-65421476	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
26	nsv897753	chr11:65405300-65422693	Genic enhancers Active TSS Flanking Active TSS Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
27	nsv897754	chr11:65405300-65436888	Transcr. at gene 5' and 3' Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers 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	59 gene(s)	inside rSNPs	diseases
28	nsv897755	chr11:65405300-65481166	Strong transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
29	nsv897756	chr11:65406393-65425167	Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
30	nsv897757	chr11:65406393-65427568	Transcr. at gene 5' and 3' Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65405200-65409600	Flanking Active TSS	Primary B cells from cord blood	blood
2	chr11:65405200-65409600	Flanking Active TSS	Primary hematopoietic stem cells	blood
3	chr11:65405400-65407200	Active TSS	Colon Smooth Muscle	Colon
4	chr11:65405600-65407800	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
5	chr11:65405800-65407800	Flanking Active TSS	Brain Hippocampus Middle	brain
6	chr11:65405800-65408800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
7	chr11:65405800-65409800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr11:65406000-65407600	Flanking Active TSS	Primary B cells from peripheral blood	blood
9	chr11:65406000-65408600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
10	chr11:65406000-65409000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
11	chr11:65406000-65409200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr11:65406000-65409800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
13	chr11:65406200-65407800	Flanking Active TSS	Primary T cells from cord blood	blood
14	chr11:65406200-65408200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
15	chr11:65406200-65408200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
16	chr11:65406200-65408600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
17	chr11:65406200-65408800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
18	chr11:65406200-65408800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr11:65406200-65409600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
20	chr11:65406200-65409600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
21	chr11:65406400-65407400	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr11:65406400-65407600	Enhancers	Gastric	stomach
23	chr11:65406400-65408000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
24	chr11:65406400-65408200	Enhancers	Pancreas	Pancrea
25	chr11:65406400-65409000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr11:65406400-65409400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr11:65406400-65409400	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr11:65406400-65409400	Weak transcription	Fetal Brain Female	brain
29	chr11:65406400-65413000	Weak transcription	Fetal Heart	heart
30	chr11:65406400-65414600	Weak transcription	Ovary	ovary
31	chr11:65406400-65416800	Weak transcription	Aorta	Aorta
32	chr11:65406600-65407200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr11:65406600-65407200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr11:65406600-65407200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr11:65406600-65407200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr11:65406600-65407200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr11:65406600-65407200	Enhancers	Brain Anterior Caudate	brain
38	chr11:65406600-65407200	Enhancers	Brain Cingulate Gyrus	brain
39	chr11:65406600-65407200	Active TSS	Duodenum Mucosa	Duodenum
40	chr11:65406600-65407200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr11:65406600-65407200	Enhancers	Fetal Stomach	stomach
42	chr11:65406600-65407200	Enhancers	Fetal Thymus	thymus
43	chr11:65406600-65407200	Weak transcription	Lung	lung
44	chr11:65406600-65407200	Weak transcription	Psoas Muscle	Psoas
45	chr11:65406600-65407200	Enhancers	Rectal Mucosa Donor 29	rectum
46	chr11:65406600-65407200	Weak transcription	Right Atrium	heart
47	chr11:65406600-65407200	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr11:65406600-65407200	Enhancers	Stomach Smooth Muscle	stomach
49	chr11:65406600-65407200	Enhancers	Dnd41	blood
50	chr11:65406600-65407200	Active TSS	GM12878-XiMat	blood

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