Variant report

Variant	rs35730001
Chromosome Location	chr1:155933002-155933003
allele	C/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	EP300	chr1:155931393-155933022	ECC-1	luminal epithelium:	n/a	n/a
2	NFIC	chr1:155931376-155933083	ECC-1	luminal epithelium:	n/a	chr1:155932578-155932595 chr1:155932579-155932595
3	NFIC	chr1:155931467-155933081	ECC-1	luminal epithelium:	n/a	chr1:155932578-155932595 chr1:155932579-155932595
4	POLR2A	chr1:155932333-155933068	K562	blood:	n/a	n/a
5	POLR2A	chr1:155932772-155933045	GM12878	blood:	n/a	n/a
6	POLR2A	chr1:155932882-155933014	H1-hESC	embryonic stem cell:	n/a	n/a
7	NFIC	chr1:155931564-155933020	SK-N-SH	brain:	n/a	chr1:155932578-155932595 chr1:155932579-155932595
8	POLR2A	chr1:155931360-155933228	U87	brain:	n/a	n/a
9	RCOR1	chr1:155931385-155933087	IMR90	lung:	n/a	n/a
10	POLR2A	chr1:155931294-155933111	HL-60	blood:	n/a	n/a
11	POLR2A	chr1:155931385-155933171	U87	brain:	n/a	n/a
12	POLR2A	chr1:155932751-155933062	GM12891	blood:	n/a	n/a
13	POLR2A	chr1:155932425-155933046	K562	blood:	n/a	n/a
14	POLR2A	chr1:155932356-155933098	GM12878	blood:	n/a	n/a
15	POLR2A	chr1:155931508-155933049	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:155932456..155935172-chr1:155940207..155941869,2	MCF-7	breast:
2	chr1:155931845..155934727-chr1:155936023..155938967,2	MCF-7	breast:
3	chr1:155902649..155906864-chr1:155928278..155934368,7	MCF-7	breast:
4	chr1:155911063..155912721-chr1:155931066..155933374,2	MCF-7	breast:

Variant related genes	Relation type
ARHGEF2	TF binding region
ENSG00000116584	Chromatin interaction
ENSG00000173080	Chromatin interaction
ENSG00000132680	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs1010033	0.96[EUR][1000 genomes]
rs1018730	0.96[EUR][1000 genomes]
rs1055184	0.94[EUR][1000 genomes]
rs10908485	0.96[EUR][1000 genomes]
rs11264421	0.90[EUR][1000 genomes]
rs12039053	0.96[EUR][1000 genomes]
rs12138833	0.96[EUR][1000 genomes]
rs12747344	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1749407	0.88[EUR][1000 genomes]
rs1749408	0.83[EUR][1000 genomes]
rs1749409	0.94[EUR][1000 genomes]
rs1765275	0.96[EUR][1000 genomes]
rs1964951	1.00[EUR][1000 genomes]
rs2275079	0.94[EUR][1000 genomes]
rs2275081	0.94[EUR][1000 genomes]
rs2364402	0.96[EUR][1000 genomes]
rs2364404	0.96[EUR][1000 genomes]
rs28379575	0.94[EUR][1000 genomes]
rs2886069	0.96[EUR][1000 genomes]
rs34802187	0.97[EUR][1000 genomes]
rs35138477	0.86[EUR][1000 genomes]
rs35374730	0.94[EUR][1000 genomes]
rs35588936	0.89[EUR][1000 genomes]
rs3768280	0.94[EUR][1000 genomes]
rs4412586	0.94[EUR][1000 genomes]
rs4661160	0.96[EUR][1000 genomes]
rs4661162	0.96[EUR][1000 genomes]
rs4661170	0.94[EUR][1000 genomes]
rs4661172	0.96[EUR][1000 genomes]
rs493446	0.94[EUR][1000 genomes]
rs506688	0.94[EUR][1000 genomes]
rs527113	0.94[EUR][1000 genomes]
rs536870	0.94[EUR][1000 genomes]
rs572609	0.94[EUR][1000 genomes]
rs605025	0.96[EUR][1000 genomes]
rs6660802	0.94[EUR][1000 genomes]
rs6667096	0.94[EUR][1000 genomes]
rs708614	0.94[EUR][1000 genomes]
rs71628697	0.96[EUR][1000 genomes]
rs71628699	0.88[EUR][1000 genomes]
rs822502	0.87[EUR][1000 genomes]
rs822503	0.93[EUR][1000 genomes]
rs822653	0.94[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	nsv916198	chr1:155804210-156403997	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	428 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155905000-155945600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr1:155911200-155940000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr1:155915200-155936800	Strong transcription	Fetal Brain Female	brain
4	chr1:155915200-155937000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:155915800-155935200	Strong transcription	Brain Germinal Matrix	brain
6	chr1:155915800-155936600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr1:155916000-155937000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr1:155916200-155937000	Strong transcription	Cortex derived primary cultured neurospheres	brain
9	chr1:155916400-155936200	Strong transcription	HUES6 Cell Line	embryonic stem cell
10	chr1:155916400-155936400	Strong transcription	H1 Cell Line	embryonic stem cell
11	chr1:155916400-155936600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr1:155916400-155937200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
13	chr1:155916400-155937400	Strong transcription	HUES48 Cell Line	embryonic stem cell
14	chr1:155916600-155935800	Strong transcription	Fetal Intestine Small	intestine
15	chr1:155916600-155937000	Strong transcription	HUES64 Cell Line	embryonic stem cell
16	chr1:155916600-155937200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
17	chr1:155916800-155937000	Strong transcription	Thymus	Thymus
18	chr1:155917000-155937200	Strong transcription	Fetal Intestine Large	intestine
19	chr1:155917000-155939400	Strong transcription	Dnd41	blood
20	chr1:155917200-155936800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr1:155917600-155936400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr1:155917600-155937000	Strong transcription	Fetal Thymus	thymus
23	chr1:155917800-155933200	Strong transcription	Rectal Smooth Muscle	rectum
24	chr1:155917800-155936400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr1:155918000-155936000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr1:155918000-155936000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr1:155918400-155935000	Strong transcription	Primary T helper cells PMA-I stimulated	--
28	chr1:155919600-155936400	Strong transcription	Primary T cells from cord blood	blood
29	chr1:155924000-155937200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr1:155926400-155937200	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr1:155926800-155936400	Strong transcription	Fetal Lung	lung
32	chr1:155926800-155937200	Strong transcription	H9 Cell Line	embryonic stem cell
33	chr1:155926800-155937200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
34	chr1:155928000-155933200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
35	chr1:155928200-155936600	Weak transcription	Fetal Brain Male	brain
36	chr1:155928600-155933800	Genic enhancers	Primary B cells from peripheral blood	blood
37	chr1:155929200-155933200	Genic enhancers	Brain Inferior Temporal Lobe	brain
38	chr1:155929400-155935800	Strong transcription	HepG2	liver
39	chr1:155929600-155933200	Genic enhancers	Muscle Satellite Cultured Cells	--
40	chr1:155929600-155933200	Genic enhancers	HSMM	muscle
41	chr1:155929600-155936200	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr1:155929600-155936400	Strong transcription	Primary hematopoietic stem cells	blood
43	chr1:155929800-155933200	Enhancers	Fetal Heart	heart
44	chr1:155929800-155933200	Genic enhancers	Skeletal Muscle Female	skeletal muscle
45	chr1:155929800-155937400	Strong transcription	Pancreas	Pancrea
46	chr1:155930000-155933200	Genic enhancers	Left Ventricle	heart
47	chr1:155930200-155933200	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr1:155930400-155933200	Genic enhancers	Adipose Nuclei	Adipose
49	chr1:155930400-155933200	Genic enhancers	Brain Substantia Nigra	brain
50	chr1:155930400-155933200	Genic enhancers	NHDF-Ad	bronchial

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