Variant report

Variant	rs17855912
Chromosome Location	chr11:65375904-65375905
allele	G/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	POLR2A	chr11:65374434-65378741	K562	blood:	n/a	n/a
2	POLR2A	chr11:65374947-65376255	HepG2	liver:	n/a	n/a
3	POLR2A	chr11:65374042-65376091	SK-N-MC	brain:	n/a	n/a

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
ENSG00000260233	Chromatin interaction
ENSG00000173465	Chromatin interaction
ENSG00000176973	Chromatin interaction
ENSG00000173442	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs11540779	1.00[AMR][1000 genomes]
rs17855262	1.00[AMR][1000 genomes]

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:124 , 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	chr11:65363600-65376800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr11:65363800-65376600	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr11:65364000-65376600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr11:65364000-65378000	Weak transcription	K562	blood
7	chr11:65364200-65378400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr11:65364800-65376800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
9	chr11:65365000-65376800	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr11:65366600-65377600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr11:65369600-65376600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr11:65369800-65377000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr11:65369800-65377800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr11:65370200-65376200	Strong transcription	Pancreas	Pancrea
15	chr11:65370200-65376800	Strong transcription	Primary T helper cells fromperipheralblood	blood
16	chr11:65370400-65377000	Strong transcription	Primary T cells from cord blood	blood
17	chr11:65370400-65377000	Strong transcription	Primary T cells fromperipheralblood	blood
18	chr11:65370400-65377400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr11:65370400-65377400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr11:65370400-65377600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr11:65370600-65377200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr11:65370600-65377200	Strong transcription	Sigmoid Colon	Sigmoid Colon
23	chr11:65370600-65378400	Strong transcription	Dnd41	blood
24	chr11:65370800-65376000	Strong transcription	A549	lung
25	chr11:65370800-65376800	Strong transcription	Primary T helper cells PMA-I stimulated	--
26	chr11:65370800-65377000	Strong transcription	HepG2	liver
27	chr11:65371000-65377600	Strong transcription	Primary B cells from cord blood	blood
28	chr11:65371200-65376800	Strong transcription	Primary B cells from peripheral blood	blood
29	chr11:65371200-65376800	Strong transcription	GM12878-XiMat	blood
30	chr11:65373400-65378000	Genic enhancers	Placenta	Placenta
31	chr11:65373600-65379200	Weak transcription	HSMMtube	muscle
32	chr11:65373800-65376000	Genic enhancers	Fetal Muscle Trunk	muscle
33	chr11:65373800-65377400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr11:65373800-65379000	Weak transcription	Fetal Kidney	kidney
35	chr11:65374000-65376000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr11:65374000-65376600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr11:65374000-65378400	Genic enhancers	Lung	lung
38	chr11:65374000-65378400	Genic enhancers	Spleen	Spleen
39	chr11:65374200-65376000	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr11:65374400-65376800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr11:65374400-65377000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr11:65374600-65377000	Weak transcription	Hela-S3	cervix
43	chr11:65375000-65378200	Genic enhancers	Left Ventricle	heart
44	chr11:65375200-65376000	Enhancers	Psoas Muscle	Psoas
45	chr11:65375200-65376800	Strong transcription	Primary hematopoietic stem cells	blood
46	chr11:65375200-65376800	Strong transcription	Rectal Mucosa Donor 29	rectum
47	chr11:65375200-65376800	Weak transcription	Stomach Mucosa	stomach
48	chr11:65375200-65377200	Genic enhancers	Adipose Nuclei	Adipose
49	chr11:65375200-65378000	Genic enhancers	Fetal Muscle Leg	muscle
50	chr11:65375400-65376000	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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