Variant report

Variant	rs12574373
Chromosome Location	chr11:64100136-64100137
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	CTCF	chr11:64098873-64100162	A549	lung:	n/a	chr11:64099815-64099836 chr11:64099483-64099492 chr11:64099477-64099495
2	NR2F2	chr11:64098880-64100192	K562	blood:	n/a	n/a
3	SMARCB1	chr11:64099008-64100183	Hela-S3	cervix:	n/a	chr11:64099216-64099225 chr11:64099675-64099684
4	NFIC	chr11:64099064-64100266	ECC-1	luminal epithelium:	n/a	n/a
5	HCFC1	chr11:64098768-64100286	Hela-S3	cervix:	n/a	n/a
6	ZBTB7A	chr11:64099288-64100201	ECC-1	luminal epithelium:	n/a	n/a
7	TCF12	chr11:64099086-64100177	ECC-1	luminal epithelium:	n/a	chr11:64100103-64100113 chr11:64099684-64099694
8	TFAP2C	chr11:64099119-64100153	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr11:64099104-64100186	Hela-S3	cervix:	n/a	n/a
10	MAZ	chr11:64099227-64100147	Hela-S3	cervix:	n/a	chr11:64099679-64099688

No.	Distal block	Cell Line	Cell type
1	chr11:64085151..64088381-chr11:64098338..64102157,4	MCF-7	breast:
2	chr11:64099746..64102577-chr11:64121757..64123741,2	K562	blood:
3	chr11:64097994..64100994-chr11:64107774..64110430,3	MCF-7	breast:
4	chr11:64099595..64101669-chr17:1927055..1928977,2	MCF-7	breast:
5	chr11:63973100..63975827-chr11:64099770..64102904,4	K562	blood:
6	chr11:64099223..64101022-chr11:64601289..64603395,2	MCF-7	breast:
7	chr11:64097984..64104274-chr11:64108545..64113861,10	MCF-7	breast:
8	chr11:64097645..64100865-chr11:64101163..64102730,3	K562	blood:

Variant related genes	Relation type
ENSG00000236935	TF binding region
ENSG00000126432	Chromatin interaction
ENSG00000185924	Chromatin interaction
ENSG00000173113	Chromatin interaction
ENSG00000168071	Chromatin interaction
ENSG00000149781	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs2515240	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897631	chr11:63664882-64129722	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	254 gene(s)	inside rSNPs	diseases
2	esv1802079	chr11:63746066-64151373	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	247 gene(s)	inside rSNPs	diseases
3	nsv897646	chr11:63754986-64150370	Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	245 gene(s)	inside rSNPs	diseases
4	nsv1035875	chr11:63800238-64132030	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	234 gene(s)	inside rSNPs	diseases
5	nsv897660	chr11:63860826-64125142	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription 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	231 gene(s)	inside rSNPs	diseases
6	nsv897661	chr11:63863405-64129722	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	233 gene(s)	inside rSNPs	diseases
7	nsv897662	chr11:63889749-64150370	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	237 gene(s)	inside rSNPs	diseases
8	nsv897664	chr11:63919742-64150370	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	237 gene(s)	inside rSNPs	diseases
9	nsv869944	chr11:63932152-64123062	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh 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	227 gene(s)	inside rSNPs	diseases
10	nsv897671	chr11:63964657-64150370	Active TSS Flanking Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Bivalent Enhancer 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	179 gene(s)	inside rSNPs	diseases
11	nsv832186	chr11:63972260-64170059	Active TSS Genic enhancers Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	180 gene(s)	inside rSNPs	diseases
12	esv1802320	chr11:63987425-64154633	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Strong transcription 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	178 gene(s)	inside rSNPs	diseases
13	nsv897679	chr11:63994692-64150370	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	169 gene(s)	inside rSNPs	diseases
14	nsv897682	chr11:63999529-64170500	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' 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	164 gene(s)	inside rSNPs	diseases
15	nsv1043277	chr11:64002997-64132030	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
16	nsv897685	chr11:64048912-64150370	Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	102 gene(s)	inside rSNPs	diseases
17	nsv555192	chr11:64097233-64111928	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	n/a
18	nsv818840	chr11:64097233-64125142	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	33 gene(s)	inside rSNPs	diseases
19	nsv818841	chr11:64097233-64129722	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64087000-64108200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:64089400-64106800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr11:64091600-64106400	Weak transcription	Primary T cells from cord blood	blood
4	chr11:64096600-64100200	Enhancers	Fetal Thymus	thymus
5	chr11:64098000-64100800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr11:64098200-64100200	Enhancers	Spleen	Spleen
7	chr11:64098400-64100200	Enhancers	Primary T cells fromperipheralblood	blood
8	chr11:64098400-64100200	Enhancers	Esophagus	oesophagus
9	chr11:64098400-64100200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr11:64098400-64100400	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr11:64098600-64100200	Enhancers	Primary B cells from cord blood	blood
12	chr11:64098600-64100200	Enhancers	Stomach Mucosa	stomach
13	chr11:64098600-64100200	Flanking Active TSS	Hela-S3	cervix
14	chr11:64098600-64100200	Enhancers	HMEC	breast
15	chr11:64098800-64100200	Enhancers	Fetal Intestine Small	intestine
16	chr11:64098800-64100400	Enhancers	Primary B cells from peripheral blood	blood
17	chr11:64098800-64100400	Enhancers	Primary hematopoietic stem cells	blood
18	chr11:64099000-64100200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
19	chr11:64099000-64100200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr11:64099000-64100200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr11:64099000-64100200	Enhancers	Lung	lung
22	chr11:64099000-64100200	Enhancers	Placenta Amnion	Placenta Amnion
23	chr11:64099000-64100200	Flanking Active TSS	A549	lung
24	chr11:64099000-64100200	Enhancers	NH-A	brain
25	chr11:64099000-64100200	Flanking Active TSS	NHEK	skin
26	chr11:64099200-64100200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
27	chr11:64099200-64100200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
28	chr11:64099400-64100200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr11:64099400-64100200	Enhancers	GM12878-XiMat	blood
30	chr11:64099400-64102400	Weak transcription	HSMMtube	muscle
31	chr11:64099400-64102600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr11:64099600-64100200	Enhancers	Rectal Mucosa Donor 29	rectum
33	chr11:64099600-64102200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr11:64099600-64102400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr11:64099600-64102600	Weak transcription	Fetal Heart	heart
36	chr11:64099600-64102600	Weak transcription	Right Atrium	heart
37	chr11:64099600-64107600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr11:64099800-64100200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr11:64099800-64100200	Enhancers	Colonic Mucosa	Colon
40	chr11:64099800-64100200	Enhancers	Duodenum Mucosa	Duodenum
41	chr11:64099800-64100400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr11:64099800-64100600	Enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr11:64099800-64100600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr11:64099800-64100600	Enhancers	K562	blood
45	chr11:64099800-64102600	Weak transcription	Gastric	stomach
46	chr11:64099800-64102600	Weak transcription	Right Ventricle	heart
47	chr11:64099800-64105600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr11:64099800-64106400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr11:64099800-64106400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr11:64099800-64106400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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