Variant report

Variant	rs574750722
Chromosome Location	chr11:66045180-66045181
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	YY1	chr11:66045047-66045497	GM12892	blood:	n/a	n/a
2	POLR2A	chr11:66044832-66045740	K562	blood:	n/a	n/a
3	POLR2A	chr11:66044872-66045686	GM12892	blood:	n/a	n/a
4	POLR2A	chr11:66045093-66045493	H1-hESC	embryonic stem cell:	n/a	n/a
5	MAX	chr11:66044977-66045565	NB4	blood:	n/a	n/a
6	POLR2A	chr11:66044331-66045670	GM12891	blood:	n/a	n/a
7	PML	chr11:66044910-66045678	GM12878	blood:	n/a	n/a
8	POLR2A	chr11:66045102-66045967	GM18951	blood:	n/a	n/a
9	ELF1	chr11:66045033-66045842	GM12878	blood:	n/a	chr11:66045562-66045574
10	MAX	chr11:66045034-66045869	HepG2	liver:	n/a	n/a
11	POLR2A	chr11:66044774-66045456	HL-60	blood:	n/a	n/a
12	POLR2A	chr11:66045037-66045991	A549	lung:	n/a	n/a
13	POLR2A	chr11:66044974-66045811	K562	blood:	n/a	n/a
14	POLR2A	chr11:66044868-66045578	U87	brain:	n/a	n/a
15	POLR2A	chr11:66045048-66045773	A549	lung:	n/a	n/a
16	TAF1	chr11:66045161-66045811	H1-neurons	neurons:	n/a	n/a
17	POLR2A	chr11:66044958-66045585	GM12892	blood:	n/a	n/a
18	POLR2A	chr11:66045160-66045726	SK-N-SH	brain:	n/a	n/a
19	POLR2A	chr11:66044955-66047256	H1-neurons	neurons:	n/a	n/a
20	EBF1	chr11:66045118-66045326	GM12878	blood:	n/a	n/a
21	POLR2A	chr11:66045161-66046203	ProgFib	skin:	n/a	n/a
22	POLR2A	chr11:66045046-66045659	GM12878	blood:	n/a	n/a
23	NFATC1	chr11:66044999-66045418	GM12878	blood:	n/a	n/a
24	POLR2A	chr11:66044819-66045764	PANC-1	pancreas:	n/a	n/a
25	POLR2A	chr11:66044735-66045575	U87	brain:	n/a	n/a
26	POU2F2	chr11:66044696-66045547	GM12891	blood:	n/a	chr11:66045277-66045289 chr11:66045489-66045501
27	POLR2A	chr11:66044966-66046890	H1-neurons	neurons:	n/a	n/a
28	RUNX3	chr11:66044787-66045574	GM12878	blood:	n/a	chr11:66044978-66044993
29	POLR2A	chr11:66044781-66045692	SK-N-MC	brain:	n/a	n/a
30	POLR2A	chr11:66044985-66045219	GM12891	blood:	n/a	n/a
31	STAT5A	chr11:66044871-66045602	GM12878	blood:	n/a	n/a
32	POLR2A	chr11:66044986-66046275	H1-hESC	embryonic stem cell:	n/a	n/a
33	MAX	chr11:66045154-66045458	GM12878	blood:	n/a	n/a
34	ELF1	chr11:66044883-66045707	GM12878	blood:	n/a	chr11:66045562-66045574
35	POLR2A	chr11:66044966-66045990	GM12878	blood:	n/a	n/a
36	POLR2A	chr11:66044332-66045621	GM12891	blood:	n/a	n/a
37	POLR2A	chr11:66044947-66045940	GM19193	blood:	n/a	n/a
38	MAZ	chr11:66044947-66047367	IMR90	lung:	n/a	chr11:66046391-66046401 chr11:66046437-66046446 chr11:66046185-66046195 chr11:66046200-66046210 chr11:66046441-66046450 chr11:66046508-66046518
39	POLR2A	chr11:66044794-66045718	H1-hESC	embryonic stem cell:	n/a	n/a
40	REST	chr11:66044785-66047553	H1-neurons	neurons:	n/a	chr11:66045480-66045493 chr11:66047485-66047495 chr11:66045549-66045562
41	POLR2A	chr11:66042282-66046515	GM12892	blood:	n/a	n/a
42	POLR2A	chr11:66044354-66045695	PFSK-1	brain:	n/a	n/a
43	POLR2A	chr11:66044915-66046016	GM12878	blood:	n/a	n/a
44	POLR2A	chr11:66044924-66045990	MCF-7	breast:	n/a	n/a
45	POLR2A	chr11:66045013-66046004	K562	blood:	n/a	n/a
46	ZBTB7A	chr11:66044933-66045913	ECC-1	luminal epithelium:	n/a	chr11:66045273-66045281 chr11:66045307-66045318 chr11:66045307-66045321
47	MYC	chr11:66045156-66045245	H1-hESC	embryonic stem cell:	n/a	n/a
48	POLR2A	chr11:66042211-66045771	GM12878	blood:	n/a	n/a
49	POLR2A	chr11:66044844-66045764	HUVEC	blood vessel:	n/a	n/a
50	SIN3AK20	chr11:66044953-66046330	PANC-1	pancreas:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:66023062..66027568-chr11:66043406..66047432,6	MCF-7	breast:
2	chr11:65818576..65820605-chr11:66044652..66046444,2	MCF-7	breast:
3	chr11:66043530..66045792-chr11:66110035..66112602,2	MCF-7	breast:

Variant related genes	Relation type
CNIH2	TF binding region
ENSG00000254452	TF binding region
ENSG00000174996	Chromatin interaction
ENSG00000087365	Chromatin interaction
ENSG00000174744	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3335923	chr11:65741698-66175759	Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
2	esv3407551	chr11:65794503-66158322	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
3	esv3392427	chr11:65981489-66273695	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases
4	nsv897771	chr11:66011280-66362997	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	124 gene(s)	inside rSNPs	diseases
5	nsv897772	chr11:66018155-66254085	Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases
6	nsv897773	chr11:66041807-66063654	Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
7	nsv555223	chr11:66041807-66064126	Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
8	esv3438726	chr11:66042776-66047874	Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
9	nsv897774	chr11:66042962-66063654	Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
10	nsv897775	chr11:66042962-66064850	Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Strong transcription Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
11	nsv897776	chr11:66042962-66066349	Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
12	esv3422064	chr11:66044801-66047349	Active TSS Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
13	nsv897777	chr11:66044882-66063654	Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
14	nsv897778	chr11:66044882-66066349	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
15	esv3412458	chr11:66044926-66047424	Enhancers Genic enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 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	chr11:66038400-66045200	Weak transcription	Psoas Muscle	Psoas
2	chr11:66040200-66045200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr11:66040200-66045200	Genic enhancers	Fetal Muscle Leg	muscle
4	chr11:66040800-66049600	Weak transcription	NHDF-Ad	bronchial
5	chr11:66041800-66045400	Weak transcription	HUVEC	blood vessel
6	chr11:66042000-66045200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr11:66042000-66055600	Weak transcription	Fetal Kidney	kidney
8	chr11:66042600-66048400	Weak transcription	A549	lung
9	chr11:66042800-66045200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr11:66042800-66050200	Weak transcription	K562	blood
11	chr11:66043000-66050200	Weak transcription	Hela-S3	cervix
12	chr11:66043400-66045400	Weak transcription	HSMM	muscle
13	chr11:66043800-66045200	Weak transcription	HMEC	breast
14	chr11:66044000-66045200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr11:66044000-66045200	Weak transcription	Dnd41	blood
16	chr11:66044000-66046200	Weak transcription	NHEK	skin
17	chr11:66044000-66047600	Weak transcription	HSMMtube	muscle
18	chr11:66044200-66045200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr11:66044200-66045200	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr11:66044200-66045200	Weak transcription	Esophagus	oesophagus
21	chr11:66044200-66045200	Weak transcription	Rectal Smooth Muscle	rectum
22	chr11:66044200-66048600	Weak transcription	NHLF	lung
23	chr11:66044200-66050200	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr11:66044200-66051800	Weak transcription	Fetal Lung	lung
25	chr11:66044400-66045200	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr11:66044400-66045600	Enhancers	Liver	Liver
27	chr11:66044600-66045200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
28	chr11:66044600-66045200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr11:66044600-66045200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr11:66044600-66045200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr11:66044600-66045200	Genic enhancers	Fetal Intestine Small	intestine
32	chr11:66044600-66045200	Enhancers	Fetal Muscle Trunk	muscle
33	chr11:66044600-66045400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
34	chr11:66044600-66045600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr11:66044800-66045200	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr11:66044800-66045200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
37	chr11:66044800-66045200	Enhancers	Primary T helper cells PMA-I stimulated	--
38	chr11:66044800-66045200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
39	chr11:66044800-66045200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr11:66044800-66045200	Genic enhancers	Fetal Stomach	stomach
41	chr11:66044800-66045200	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
42	chr11:66044800-66045400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
43	chr11:66044800-66045400	Enhancers	Fetal Brain Male	brain
44	chr11:66044800-66045400	Flanking Active TSS	Fetal Brain Female	brain
45	chr11:66044800-66046000	Enhancers	Fetal Intestine Large	intestine
46	chr11:66044800-66046600	Enhancers	Primary B cells from peripheral blood	blood
47	chr11:66044800-66046800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
48	chr11:66045000-66045200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr11:66045000-66045200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr11:66045000-66045200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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