Variant report

Variant	rs11692546
Chromosome Location	chr2:20306629-20306630
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:119)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:119 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr2:20306600-20306750	AG09319	gingival:	n/a	n/a
2	CTCF	chr2:20306540-20306690	HFF-Myc	foreskin:	n/a	n/a
3	CTCF	chr2:20306600-20306750	HRPEpiC	eye:	n/a	n/a
4	CTCF	chr2:20306540-20306690	NHLF	lung:	n/a	n/a
5	TAF1	chr2:20306455-20306918	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTCF	chr2:20306560-20306710	GM12871	blood:	n/a	n/a
7	MAX	chr2:20306336-20307012	H1-hESC	embryonic stem cell:	n/a	n/a
8	CTCF	chr2:20306540-20306690	HAc	cerebellar:	n/a	n/a
9	TBP	chr2:20306459-20306863	H1-hESC	embryonic stem cell:	n/a	n/a
10	CTCF	chr2:20306540-20306690	GM12866	blood:	n/a	n/a
11	RAD21	chr2:20306486-20307007	ECC-1	luminal epithelium:	n/a	n/a
12	CTCF	chr2:20306600-20306750	GM12866	blood:	n/a	n/a
13	CTCF	chr2:20306600-20306750	GM12870	blood:	n/a	n/a
14	CTCF	chr2:20306620-20306770	Hela-S3	cervix:	n/a	n/a
15	RAD21	chr2:20306475-20306896	H1-hESC	embryonic stem cell:	n/a	n/a
16	CTCF	chr2:20306580-20306730	GM12869	blood:	n/a	n/a
17	CTCF	chr2:20306620-20306770	SAEC	small airway:	n/a	n/a
18	CTCF	chr2:20306556-20306825	MCF-7	breast:	n/a	n/a
19	USF2	chr2:20306605-20306717	H1-hESC	embryonic stem cell:	n/a	n/a
20	CTCF	chr2:20306540-20306690	GM12875	blood:	n/a	n/a
21	SIN3A	chr2:20306532-20306786	H1-hESC	embryonic stem cell:	n/a	n/a
22	BACH1	chr2:20306514-20306800	H1-hESC	embryonic stem cell:	n/a	n/a
23	CTCF	chr2:20306550-20306847	NHEK	skin:	n/a	n/a
24	CTCF	chr2:20306620-20306770	MCF-7	breast:	n/a	n/a
25	RAD21	chr2:20306543-20306884	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr2:20306564-20306842	HUVEC	blood vessel:	n/a	n/a
27	GABPA	chr2:20306549-20306917	H1-hESC	embryonic stem cell:	n/a	n/a
28	CTCF	chr2:20306600-20306750	HRE	kidney:	n/a	n/a
29	CTCF	chr2:20306600-20306750	HVMF	connective:	n/a	n/a
30	CTCF	chr2:20306600-20306750	A549	lung:	n/a	n/a
31	POLR2A	chr2:20306567-20306803	A549	lung:	n/a	n/a
32	CTCF	chr2:20306620-20306770	HBMEC	blood vessel:	n/a	n/a
33	CTCF	chr2:20306540-20306690	RPTEC	kidney:	n/a	n/a
34	CTCF	chr2:20306616-20306817	GM13977	blood:	n/a	n/a
35	CTCF	chr2:20306558-20306824	H1-hESC	embryonic stem cell:	n/a	n/a
36	CTCF	chr2:20306540-20306690	GM12865	blood:	n/a	n/a
37	CTCF	chr2:20306560-20306710	AoAF	blood vessel:	n/a	n/a
38	POLR2A	chr2:20306490-20306733	K562	blood:	n/a	n/a
39	CTCF	chr2:20306520-20306670	AG09309	skin:	n/a	n/a
40	CTCF	chr2:20306560-20306710	HFF-Myc	foreskin:	n/a	n/a
41	CTCF	chr2:20306600-20306750	GM12865	blood:	n/a	n/a
42	HA-E2F1	chr2:20306410-20306928	MCF-7	breast:	n/a	n/a
43	CTCF	chr2:20306480-20306630	HFF	foreskin:	n/a	n/a
44	MAZ	chr2:20306283-20306897	IMR90	lung:	n/a	n/a
45	CTCF	chr2:20306600-20306750	HPAF	blood vessel:	n/a	n/a
46	CTCF	chr2:20306621-20306768	Lung_OC	lung:	n/a	n/a
47	CTCF	chr2:20306432-20306872	T-47D	breast:	n/a	n/a
48	CTCF	chr2:20306560-20306710	BJ	skin:	n/a	n/a
49	POLR2A	chr2:20306391-20306632	ECC-1	luminal epithelium:	n/a	n/a
50	CTCF	chr2:20306620-20306770	AG04449	skin:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:20299695..20307724-chr2:20421846..20426859,15	MCF-7	breast:
2	chr2:20306020..20309024-chr2:20421635..20424090,4	MCF-7	breast:
3	chr2:20306351..20307044-chr2:20424834..20425592,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000234378	TF binding region
ENSG00000115884	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10169811	0.90[CEU][hapmap]
rs10171384	0.87[CEU][hapmap]
rs10195803	0.90[CEU][hapmap]
rs10199614	0.87[CEU][hapmap]
rs10208355	0.86[CEU][hapmap]
rs1028054	0.87[CEU][hapmap]
rs1028055	0.90[CEU][hapmap]
rs11096639	0.86[CEU][hapmap]
rs11673841	0.89[EUR][1000 genomes]
rs11677683	0.80[AMR][1000 genomes]
rs11677734	0.86[CEU][hapmap];0.80[AMR][1000 genomes]
rs11679737	0.95[CEU][hapmap];0.93[CHB][hapmap];0.93[JPT][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11682837	0.89[EUR][1000 genomes]
rs11685443	0.85[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs11685788	0.87[CEU][hapmap]
rs11689490	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes]
rs11690530	1.00[CEU][hapmap];0.94[CHB][hapmap];0.86[JPT][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11900576	0.83[CEU][hapmap]
rs13005386	0.90[CEU][hapmap];0.80[AMR][1000 genomes]
rs13391566	0.83[CEU][hapmap]
rs1554007	0.81[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs34367401	0.86[EUR][1000 genomes]
rs34481015	0.86[EUR][1000 genomes]
rs34694787	0.82[AMR][1000 genomes]
rs62112180	0.89[EUR][1000 genomes]
rs6531203	0.83[CEU][hapmap]
rs6531204	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes]
rs6531205	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes]
rs6531206	0.87[CEU][hapmap]
rs6531207	0.87[CEU][hapmap]
rs6708655	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes]
rs6709349	0.95[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6749952	0.82[EUR][1000 genomes]
rs7556745	0.82[CEU][hapmap]
rs7558628	0.90[CEU][hapmap]
rs7561381	0.83[CEU][hapmap]
rs7572608	0.87[CEU][hapmap]
rs7582437	0.86[CEU][hapmap]
rs7583420	0.87[CEU][hapmap]
rs7609013	0.87[CEU][hapmap]
rs878983	0.90[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs907864	0.86[CEU][hapmap]

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20298400-20307800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:20303600-20307000	Enhancers	Esophagus	oesophagus
3	chr2:20304600-20306800	Weak transcription	Fetal Lung	lung
4	chr2:20304800-20308600	Weak transcription	Liver	Liver
5	chr2:20305200-20307200	Weak transcription	HepG2	liver
6	chr2:20305200-20308600	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr2:20305800-20310200	Weak transcription	Gastric	stomach
8	chr2:20306000-20308600	Weak transcription	Stomach Mucosa	stomach
9	chr2:20306200-20306800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr2:20306200-20306800	Active TSS	HUES6 Cell Line	embryonic stem cell
11	chr2:20306200-20307000	Active TSS	H9 Cell Line	embryonic stem cell
12	chr2:20306200-20307000	Active TSS	HUES64 Cell Line	embryonic stem cell
13	chr2:20306200-20307000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr2:20306200-20307000	Bivalent/Poised TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr2:20306200-20307000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr2:20306200-20307000	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
17	chr2:20306200-20307000	Active TSS	NHEK	skin
18	chr2:20306200-20307200	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
19	chr2:20306200-20307400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
20	chr2:20306400-20306800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr2:20306400-20306800	Active TSS	Breast Myoepithelial Primary Cells	Breast
22	chr2:20306400-20306800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr2:20306400-20306800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr2:20306400-20306800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr2:20306400-20306800	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
26	chr2:20306400-20306800	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
27	chr2:20306400-20306800	Active TSS	Fetal Intestine Large	intestine
28	chr2:20306400-20306800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
29	chr2:20306400-20306800	Enhancers	Lung	lung
30	chr2:20306400-20306800	Bivalent/Poised TSS	Psoas Muscle	Psoas
31	chr2:20306400-20306800	Enhancers	Spleen	Spleen
32	chr2:20306400-20306800	Enhancers	HUVEC	blood vessel
33	chr2:20306400-20307000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
34	chr2:20306400-20307000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr2:20306400-20307000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
36	chr2:20306400-20307000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
37	chr2:20306400-20307000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr2:20306400-20307000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr2:20306400-20307000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
40	chr2:20306400-20307000	Active TSS	Primary T regulatory cells fromperipheralblood	blood
41	chr2:20306400-20307000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr2:20306400-20307000	Active TSS	Duodenum Mucosa	Duodenum
43	chr2:20306400-20307000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
44	chr2:20306400-20307000	Active TSS	Fetal Intestine Small	intestine
45	chr2:20306400-20307000	Active TSS	Left Ventricle	heart
46	chr2:20306400-20307000	Active TSS	Pancreas	Pancrea
47	chr2:20306400-20307000	Flanking Active TSS	HMEC	breast
48	chr2:20306400-20307000	Active TSS	NHLF	lung
49	chr2:20306400-20307000	Active TSS	Osteobl	bone
50	chr2:20306400-20307200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell

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