Variant report

Variant	rs3770955
Chromosome Location	chr2:36595271-36595272
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:87)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:87 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RCOR1	chr2:36595215-36595327	HepG2	liver:	n/a	n/a
2	STAT3	chr2:36594982-36595343	MCF10A-Er-Src	breast:	n/a	chr2:36595182-36595190
3	RCOR1	chr2:36595052-36595360	Hela-S3	cervix:	n/a	n/a
4	TEAD4	chr2:36594873-36595655	SK-N-SH	brain:	n/a	n/a
5	MAX	chr2:36594817-36595408	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr2:36594965-36595477	H1-hESC	embryonic stem cell:	n/a	n/a
7	USF2	chr2:36595011-36595375	Hela-S3	cervix:	n/a	n/a
8	FOS	chr2:36594989-36595352	MCF10A-Er-Src	breast:	n/a	n/a
9	MYC	chr2:36595008-36595302	H1-hESC	embryonic stem cell:	n/a	n/a
10	SIN3AK20	chr2:36594825-36595647	A549	lung:	n/a	n/a
11	POLR2A	chr2:36595255-36595438	A549	lung:	n/a	n/a
12	SIN3AK20	chr2:36594992-36595642	A549	lung:	n/a	n/a
13	STAT3	chr2:36595017-36595316	MCF10A-Er-Src	breast:	n/a	chr2:36595182-36595190
14	CTCF	chr2:36595220-36595370	A549	lung:	n/a	n/a
15	TCF12	chr2:36594578-36595731	A549	lung:	n/a	n/a
16	POLR2A	chr2:36594703-36595989	MCF10A-Er-Src	breast:	n/a	n/a
17	PBX3	chr2:36594893-36595625	SK-N-SH	brain:	n/a	n/a
18	GTF2F1	chr2:36595221-36595294	H1-hESC	embryonic stem cell:	n/a	n/a
19	TCF7L2	chr2:36595071-36595611	PANC-1	pancreas:	n/a	n/a
20	TEAD4	chr2:36595030-36595427	H1-hESC	embryonic stem cell:	n/a	n/a
21	EP300	chr2:36595040-36595336	Hela-S3	cervix:	n/a	n/a
22	CEBPB	chr2:36594911-36595750	A549	lung:	n/a	n/a
23	SP1	chr2:36594938-36595831	A549	lung:	n/a	chr2:36595328-36595338
24	POLR2A	chr2:36595005-36595699	Hela-S3	cervix:	n/a	n/a
25	SIN3AK20	chr2:36594960-36595396	SK-N-SH	brain:	n/a	n/a
26	TEAD4	chr2:36594601-36595487	HepG2	liver:	n/a	n/a
27	TEAD4	chr2:36594980-36595604	ECC-1	luminal epithelium:	n/a	n/a
28	POLR2A	chr2:36594529-36597598	IMR90	lung:	n/a	n/a
29	CEBPB	chr2:36594966-36595660	ECC-1	luminal epithelium:	n/a	n/a
30	FOS	chr2:36595010-36595534	MCF10A-Er-Src	breast:	n/a	n/a
31	TAF1	chr2:36595093-36595351	SK-N-SH	brain:	n/a	n/a
32	BCL3	chr2:36594672-36595728	A549	lung:	n/a	n/a
33	FOS	chr2:36594843-36595956	MCF10A-Er-Src	breast:	n/a	chr2:36595657-36595666
34	NFIC	chr2:36594864-36595912	SK-N-SH	brain:	n/a	n/a
35	MAX	chr2:36594921-36595679	A549	lung:	n/a	n/a
36	POLR2A	chr2:36595053-36595337	SK-N-SH	brain:	n/a	n/a
37	NFIC	chr2:36594913-36595532	ECC-1	luminal epithelium:	n/a	n/a
38	RAD21	chr2:36595178-36595286	H1-hESC	embryonic stem cell:	n/a	n/a
39	GATA3	chr2:36593488-36595730	SK-N-SH	brain:	n/a	chr2:36594849-36594859
40	POLR2A	chr2:36594531-36595831	PANC-1	pancreas:	n/a	n/a
41	CEBPB	chr2:36594996-36595641	A549	lung:	n/a	n/a
42	SMC3	chr2:36595020-36595332	Hela-S3	cervix:	n/a	n/a
43	STAT3	chr2:36594856-36595491	MCF10A-Er-Src	breast:	n/a	chr2:36595182-36595190
44	POLR2A	chr2:36594515-36595675	H1-hESC	embryonic stem cell:	n/a	n/a
45	POLR2A	chr2:36594552-36595657	HepG2	liver:	n/a	n/a
46	POLR2A	chr2:36593640-36596146	HUVEC	blood vessel:	n/a	n/a
47	MYC	chr2:36594970-36596025	MCF10A-Er-Src	breast:	n/a	n/a
48	JUND	chr2:36595195-36595321	H1-hESC	embryonic stem cell:	n/a	n/a
49	RFX5	chr2:36594926-36595391	Hela-S3	cervix:	n/a	n/a
50	E2F4	chr2:36595094-36595586	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:36594282..36595810-chr2:36601465..36603754,2	MCF-7	breast:
2	chr2:36593697..36595696-chr2:36635356..36637149,2	MCF-7	breast:
3	chr2:36585288..36588127-chr2:36593960..36595657,2	MCF-7	breast:
4	chr2:36582061..36584144-chr2:36592487..36595427,3	MCF-7	breast:
5	chr2:36582124..36584781-chr2:36595194..36598033,3	MCF-7	breast:

No data

Variant related genes	Relation type
CRIM1	TF binding region
ENSG00000260025	Chromatin interaction
ENSG00000150938	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10167098	0.81[EUR][1000 genomes]
rs2113631	0.82[EUR][1000 genomes]
rs2113632	0.84[EUR][1000 genomes]
rs2161904	0.84[EUR][1000 genomes]
rs2888338	0.83[EUR][1000 genomes]
rs3732075	0.93[ASN][1000 genomes]
rs3770946	0.84[CEU][hapmap]
rs3770947	0.84[CEU][hapmap];0.82[EUR][1000 genomes]
rs3770963	0.84[EUR][1000 genomes]
rs4670548	0.87[EUR][1000 genomes]
rs6708545	0.83[EUR][1000 genomes]
rs6728742	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs848498	0.85[JPT][hapmap]
rs848500	0.84[JPT][hapmap]
rs848501	0.84[JPT][hapmap]
rs848503	0.85[JPT][hapmap]
rs848507	0.85[JPT][hapmap]
rs888076	0.81[CEU][hapmap];0.83[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833803	chr2:36589065-36745779	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:36585200-36596400	Weak transcription	Pancreas	Pancrea
2	chr2:36585800-36596400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr2:36586200-36603600	Weak transcription	Brain Germinal Matrix	brain
4	chr2:36586200-36626600	Weak transcription	Primary B cells from cord blood	blood
5	chr2:36586600-36596400	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr2:36589800-36596200	Weak transcription	Brain Hippocampus Middle	brain
7	chr2:36589800-36596400	Weak transcription	Brain Cingulate Gyrus	brain
8	chr2:36590000-36598200	Genic enhancers	Muscle Satellite Cultured Cells	--
9	chr2:36590800-36597200	Enhancers	H1 Cell Line	embryonic stem cell
10	chr2:36592200-36595600	Enhancers	Placenta	Placenta
11	chr2:36592400-36599800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr2:36592400-36605800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr2:36592600-36596400	Enhancers	HSMMtube	muscle
14	chr2:36592600-36596600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr2:36592600-36597200	Enhancers	Placenta Amnion	Placenta Amnion
16	chr2:36592600-36597200	Enhancers	Right Atrium	heart
17	chr2:36592800-36598200	Enhancers	NHDF-Ad	bronchial
18	chr2:36593200-36596000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr2:36593200-36596400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
20	chr2:36593200-36598000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr2:36593200-36598000	Genic enhancers	HSMM	muscle
22	chr2:36593400-36599400	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr2:36593400-36601800	Enhancers	Fetal Lung	lung
24	chr2:36593600-36595400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr2:36593600-36595600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr2:36593600-36596000	Enhancers	Duodenum Smooth Muscle	Duodenum
27	chr2:36593600-36596200	Enhancers	Fetal Kidney	kidney
28	chr2:36593600-36597200	Enhancers	H9 Cell Line	embryonic stem cell
29	chr2:36593600-36598400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr2:36593600-36602400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr2:36593800-36595600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
32	chr2:36593800-36595800	Enhancers	Duodenum Mucosa	Duodenum
33	chr2:36593800-36595800	Enhancers	Fetal Intestine Large	intestine
34	chr2:36593800-36595800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
35	chr2:36593800-36595800	Enhancers	Small Intestine	intestine
36	chr2:36593800-36596000	Enhancers	Fetal Muscle Leg	muscle
37	chr2:36593800-36596400	Enhancers	Fetal Intestine Small	intestine
38	chr2:36593800-36597000	Enhancers	Sigmoid Colon	Sigmoid Colon
39	chr2:36593800-36598400	Enhancers	Rectal Mucosa Donor 31	rectum
40	chr2:36594000-36595400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr2:36594000-36595600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr2:36594000-36595800	Flanking Active TSS	NHLF	lung
43	chr2:36594000-36596200	Flanking Active TSS	NHEK	skin
44	chr2:36594000-36596400	Weak transcription	Brain Substantia Nigra	brain
45	chr2:36594000-36597000	Enhancers	Fetal Stomach	stomach
46	chr2:36594000-36603600	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr2:36594200-36601600	Weak transcription	Fetal Brain Male	brain
48	chr2:36594200-36605400	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chr2:36594400-36602000	Enhancers	Fetal Heart	heart
50	chr2:36594600-36595400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell

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