Variant report

Variant	rs570554901
Chromosome Location	chr11:65374805-65374806
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	REST	chr11:65374724-65375043	ECC-1	luminal epithelium:	n/a	n/a
2	TAF1	chr11:65374574-65375110	ECC-1	luminal epithelium:	n/a	n/a
3	YY1	chr11:65374540-65375084	ECC-1	luminal epithelium:	n/a	chr11:65375033-65375047
4	CREB1	chr11:65374468-65375130	ECC-1	luminal epithelium:	n/a	n/a
5	SIN3AK20	chr11:65374663-65374930	SK-N-SH	brain:	n/a	n/a
6	POLR2A	chr11:65374676-65374821	ProgFib	skin:	n/a	n/a
7	POLR2A	chr11:65374079-65375441	HUVEC	blood vessel:	n/a	n/a
8	USF2	chr11:65374702-65374946	H1-hESC	embryonic stem cell:	n/a	n/a
9	NFIC	chr11:65374550-65375200	ECC-1	luminal epithelium:	n/a	n/a
10	SIN3AK20	chr11:65374639-65375019	H1-hESC	embryonic stem cell:	n/a	n/a
11	SIN3A	chr11:65374635-65375094	H1-hESC	embryonic stem cell:	n/a	chr11:65375035-65375044
12	MAZ	chr11:65374253-65375213	IMR90	lung:	n/a	chr11:65374486-65374496
13	POLR2A	chr11:65374651-65374969	H1-hESC	embryonic stem cell:	n/a	n/a
14	MAX	chr11:65374528-65375057	SK-N-SH	brain:	n/a	n/a
15	E2F6	chr11:65374508-65375420	H1-hESC	embryonic stem cell:	n/a	n/a
16	MAX	chr11:65374299-65375256	HCT-116	colon:	n/a	chr11:65374486-65374496
17	CREB1	chr11:65374300-65375249	H1-hESC	embryonic stem cell:	n/a	n/a
18	CHD2	chr11:65374522-65375256	H1-hESC	embryonic stem cell:	n/a	n/a
19	PBX3	chr11:65374218-65375083	SK-N-SH	brain:	n/a	n/a
20	POLR2A	chr11:65374263-65375083	HUVEC	blood vessel:	n/a	n/a
21	SRF	chr11:65374612-65375096	ECC-1	luminal epithelium:	n/a	chr11:65374728-65374738
22	HMGN3	chr11:65374765-65374808	K562	blood:	n/a	n/a
23	CEBPB	chr11:65374674-65374832	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chr11:65374568-65375273	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr11:65374619-65375045	ECC-1	luminal epithelium:	n/a	n/a
26	GTF2F1	chr11:65374686-65375060	H1-hESC	embryonic stem cell:	n/a	n/a
27	SIN3AK20	chr11:65374379-65375087	SK-N-SH	brain:	n/a	n/a
28	RCOR1	chr11:65374433-65375132	IMR90	lung:	n/a	n/a
29	FOXP2	chr11:65374418-65374950	SK-N-MC	brain:	n/a	n/a
30	POLR2A	chr11:65374102-65375461	HUVEC	blood vessel:	n/a	n/a
31	TEAD4	chr11:65374593-65375276	H1-hESC	embryonic stem cell:	n/a	n/a
32	TCF3	chr11:65374660-65374974	GM12878	blood:	n/a	n/a
33	YY1	chr11:65374466-65374929	H1-hESC	embryonic stem cell:	n/a	chr11:65374479-65374493
34	MAX	chr11:65374648-65375227	H1-hESC	embryonic stem cell:	n/a	n/a
35	POLR2A	chr11:65374538-65375088	H1-neurons	neurons:	n/a	n/a
36	JUND	chr11:65374610-65374867	H1-hESC	embryonic stem cell:	n/a	n/a
37	BACH1	chr11:65374376-65375215	H1-hESC	embryonic stem cell:	n/a	n/a
38	EGR1	chr11:65374439-65374947	ECC-1	luminal epithelium:	n/a	chr11:65374686-65374699 chr11:65374691-65374706 chr11:65374693-65374703 chr11:65374692-65374705 chr11:65374692-65374705 chr11:65374693-65374702 chr11:65374692-65374705 chr11:65374486-65374496
39	SP1	chr11:65374259-65375091	HCT-116	colon:	n/a	chr11:65374521-65374535 chr11:65374486-65374496 chr11:65374485-65374497 chr11:65374569-65374579 chr11:65374521-65374531 chr11:65374487-65374496 chr11:65374690-65374700 chr11:65374486-65374496 chr11:65374485-65374497 chr11:65374486-65374495 chr11:65374601-65374612 chr11:65374684-65374698 chr11:65374691-65374700
40	GABPA	chr11:65374670-65375176	H1-hESC	embryonic stem cell:	n/a	n/a
41	POLR2A	chr11:65374265-65375010	SK-N-MC	brain:	n/a	n/a
42	MAX	chr11:65374471-65375310	H1-hESC	embryonic stem cell:	n/a	chr11:65374486-65374496
43	NANOG	chr11:65374592-65374922	H1-hESC	embryonic stem cell:	n/a	n/a
44	SP4	chr11:65374235-65375039	H1-hESC	embryonic stem cell:	n/a	chr11:65374485-65374501 chr11:65374566-65374582 chr11:65374483-65374499 chr11:65374601-65374612
45	MAX	chr11:65374452-65375189	SK-N-SH	brain:	n/a	chr11:65374486-65374496
46	TBP	chr11:65374423-65375155	H1-hESC	embryonic stem cell:	n/a	n/a
47	MAX	chr11:65374640-65374865	K562	blood:	n/a	n/a
48	MYC	chr11:65374735-65374850	HUVEC	blood vessel:	n/a	n/a
49	MXI1	chr11:65374054-65375313	IMR90	lung:	n/a	n/a
50	MAX	chr11:65374357-65375276	HCT-116	colon:	n/a	chr11:65374486-65374496

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:65336061..65346997-chr11:65371025..65390625,42	MCF-7	breast:

Variant related genes	Relation type
MAP3K11	TF binding region
ENSG00000173465	Chromatin interaction
ENSG00000260233	Chromatin interaction
ENSG00000173442	Chromatin interaction
ENSG00000176973	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:29 , 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	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
5	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
6	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
7	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
8	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
9	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
10	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
11	nsv897730	chr11:65302893-65376484	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	nsv897738	chr11:65337714-65380248	Genic enhancers Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
22	nsv897739	chr11:65337714-65388300	Genic enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
23	nsv897741	chr11:65338589-65376484	Flanking Active TSS Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
24	nsv897742	chr11:65338589-65380248	Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
25	nsv897743	chr11:65338589-65382564	Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
26	esv2761680	chr11:65344328-65391317	Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	46 gene(s)	inside rSNPs	diseases
27	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
28	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
29	esv3439941	chr11:65373801-65376349	Active TSS Transcr. at gene 5' and 3' Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65356800-65376400	Strong transcription	Primary neutrophils fromperipheralblood	blood
2	chr11:65362200-65379800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr11:65363600-65375000	Strong transcription	Thymus	Thymus
4	chr11:65363600-65376800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr11:65363800-65376600	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr11:65364000-65376600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr11:65364000-65378000	Weak transcription	K562	blood
8	chr11:65364200-65378400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr11:65364800-65376800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
10	chr11:65365000-65376800	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr11:65366600-65377600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr11:65369600-65376600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr11:65369800-65375200	Strong transcription	Rectal Mucosa Donor 31	rectum
14	chr11:65369800-65377000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr11:65369800-65377800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr11:65370200-65376200	Strong transcription	Pancreas	Pancrea
17	chr11:65370200-65376800	Strong transcription	Primary T helper cells fromperipheralblood	blood
18	chr11:65370400-65377000	Strong transcription	Primary T cells from cord blood	blood
19	chr11:65370400-65377000	Strong transcription	Primary T cells fromperipheralblood	blood
20	chr11:65370400-65377400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr11:65370400-65377400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr11:65370400-65377600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr11:65370600-65377200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr11:65370600-65377200	Strong transcription	Sigmoid Colon	Sigmoid Colon
25	chr11:65370600-65378400	Strong transcription	Dnd41	blood
26	chr11:65370800-65375800	Strong transcription	Small Intestine	intestine
27	chr11:65370800-65376000	Strong transcription	A549	lung
28	chr11:65370800-65376800	Strong transcription	Primary T helper cells PMA-I stimulated	--
29	chr11:65370800-65377000	Strong transcription	HepG2	liver
30	chr11:65371000-65377600	Strong transcription	Primary B cells from cord blood	blood
31	chr11:65371200-65375600	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr11:65371200-65376800	Strong transcription	Primary B cells from peripheral blood	blood
33	chr11:65371200-65376800	Strong transcription	GM12878-XiMat	blood
34	chr11:65373200-65375200	Weak transcription	Primary hematopoietic stem cells	blood
35	chr11:65373400-65375400	Weak transcription	Aorta	Aorta
36	chr11:65373400-65378000	Genic enhancers	Placenta	Placenta
37	chr11:65373600-65379200	Weak transcription	HSMMtube	muscle
38	chr11:65373800-65375800	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr11:65373800-65376000	Genic enhancers	Fetal Muscle Trunk	muscle
40	chr11:65373800-65377400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr11:65373800-65379000	Weak transcription	Fetal Kidney	kidney
42	chr11:65374000-65375400	Enhancers	Right Atrium	heart
43	chr11:65374000-65375400	Flanking Active TSS	Stomach Smooth Muscle	stomach
44	chr11:65374000-65375600	Enhancers	Fetal Heart	heart
45	chr11:65374000-65375600	Genic enhancers	Fetal Stomach	stomach
46	chr11:65374000-65375800	Enhancers	Fetal Brain Male	brain
47	chr11:65374000-65376000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr11:65374000-65376600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr11:65374000-65378400	Genic enhancers	Lung	lung
50	chr11:65374000-65378400	Genic enhancers	Spleen	Spleen

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