Variant report

Variant	rs1889531
Chromosome Location	chr1:155951629-155951630
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:155951613-155951921	HCT-116	colon:	n/a	n/a
2	POLR2A	chr1:155950858-155951651	Raji	blood:	n/a	n/a
3	POLR2A	chr1:155943832-155953868	U87	brain:	n/a	n/a
4	POLR2A	chr1:155943838-155953803	U87	brain:	n/a	n/a
5	RCOR1	chr1:155950602-155951968	IMR90	lung:	n/a	n/a
6	EBF1	chr1:155951494-155951780	GM12878	blood:	n/a	chr1:155951631-155951642
7	POLR2A	chr1:155950620-155953675	U87	brain:	n/a	n/a
8	CTCF	chr1:155951480-155951630	HVMF	connective:	n/a	n/a
9	EBF1	chr1:155951437-155951834	GM12878	blood:	n/a	chr1:155951631-155951642
10	POLR2A	chr1:155951008-155952442	IMR90	lung:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:155949796..155952552-chr1:155965879..155967934,2	K562	blood:
2	chr1:155928147..155930680-chr1:155950511..155952920,2	K562	blood:
3	chr1:155950120..155952979-chr1:155958659..155960615,3	MCF-7	breast:
4	chr1:155943579..155945946-chr1:155950039..155953037,2	MCF-7	breast:
5	chr1:155949794..155952659-chr1:155990728..155992643,2	K562	blood:
6	chr1:155949831..155952126-chr1:156022990..156025068,2	K562	blood:
7	chr1:155907837..155914260-chr1:155947632..155952579,11	MCF-7	breast:
8	chr1:155903867..155905508-chr1:155950424..155952839,2	MCF-7	breast:
9	chr1:155950273..155951784-chr1:155982062..155983616,2	K562	blood:
10	chr1:155950118..155953012-chr1:155973513..155975361,2	K562	blood:
11	chr1:155906141..155908097-chr1:155950003..155952687,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RXFP4-2	chr1:155950658-155952777	ENSG00000273002.1

No data

Variant related genes	Relation type
ARHGEF2	TF binding region
ENSG00000160803	Chromatin interaction
ENSG00000173080	Chromatin interaction
ENSG00000163479	Chromatin interaction
ENSG00000132680	Chromatin interaction
ENSG00000116584	Chromatin interaction
ENSG00000116586	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10752614	0.87[ASW][hapmap]
rs12722806	1.00[ASW][hapmap];0.82[LWK][hapmap];0.83[MKK][hapmap];0.94[YRI][hapmap];1.00[AMR][1000 genomes]
rs4661150	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8179394	0.87[AFR][1000 genomes]
rs822517	0.86[ASW][hapmap];0.82[LWK][hapmap];0.94[YRI][hapmap];1.00[AMR][1000 genomes]
rs822518	0.86[ASW][hapmap];1.00[LWK][hapmap];0.93[MKK][hapmap];0.94[YRI][hapmap];1.00[AMR][1000 genomes]
rs864770	1.00[AMR][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:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155948600-155951800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
2	chr1:155948600-155952000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
3	chr1:155948600-155952200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr1:155948600-155952200	Flanking Active TSS	Hela-S3	cervix
5	chr1:155948600-155953800	Flanking Active TSS	NHEK	skin
6	chr1:155948800-155951800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
7	chr1:155948800-155953200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr1:155949000-155951800	Enhancers	Liver	Liver
9	chr1:155949000-155952000	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr1:155949000-155952000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
11	chr1:155949000-155952600	Flanking Active TSS	HSMMtube	muscle
12	chr1:155949000-155953400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr1:155949000-155953800	Weak transcription	Pancreas	Pancrea
14	chr1:155949200-155952000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr1:155949200-155952000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
16	chr1:155949200-155953400	Weak transcription	Brain Germinal Matrix	brain
17	chr1:155949200-155953800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr1:155949400-155951800	Enhancers	Brain Substantia Nigra	brain
19	chr1:155949400-155951800	Enhancers	Stomach Mucosa	stomach
20	chr1:155949400-155952000	Enhancers	Fetal Kidney	kidney
21	chr1:155949400-155953000	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr1:155949400-155953000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr1:155949400-155953400	Flanking Active TSS	NHLF	lung
24	chr1:155949400-155953800	Enhancers	HUVEC	blood vessel
25	chr1:155949600-155951800	Enhancers	H1 Cell Line	embryonic stem cell
26	chr1:155949600-155951800	Enhancers	Fetal Intestine Large	intestine
27	chr1:155949600-155951800	Enhancers	Right Ventricle	heart
28	chr1:155949600-155952000	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr1:155949600-155952000	Genic enhancers	Fetal Stomach	stomach
30	chr1:155949600-155952000	Enhancers	Small Intestine	intestine
31	chr1:155949600-155952000	Flanking Active TSS	GM12878-XiMat	blood
32	chr1:155949600-155952600	Enhancers	Esophagus	oesophagus
33	chr1:155949600-155952600	Enhancers	Sigmoid Colon	Sigmoid Colon
34	chr1:155949600-155954200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
35	chr1:155949600-155954200	Enhancers	Fetal Lung	lung
36	chr1:155949600-155954400	Enhancers	Lung	lung
37	chr1:155949600-155954800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr1:155949600-155954800	Enhancers	Fetal Thymus	thymus
39	chr1:155949800-155951800	Genic enhancers	Fetal Intestine Small	intestine
40	chr1:155949800-155951800	Enhancers	Thymus	Thymus
41	chr1:155949800-155952000	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr1:155949800-155952000	Enhancers	iPS-18 Cell Line	embryonic stem cell
43	chr1:155949800-155952000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr1:155949800-155952400	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr1:155949800-155953000	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr1:155949800-155954000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr1:155949800-155954000	Enhancers	Colon Smooth Muscle	Colon
48	chr1:155949800-155954200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr1:155950000-155951800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
50	chr1:155950000-155952000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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