Variant report

Variant	rs4944147
Chromosome Location	chr11:76880518-76880519
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:76877108..76882328-chr11:76882354..76886286,6	K562	blood:
2	chr11:76877108..76882092-chr11:76882914..76884987,4	K562	blood:
3	chr11:76868588..76871297-chr11:76879348..76881579,2	MCF-7	breast:

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11601497	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11607721	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];0.95[MEX][hapmap];0.97[MKK][hapmap];0.95[TSI][hapmap];0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2156568	0.85[CEU][hapmap]
rs3758709	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4944144	0.81[CEU][hapmap]
rs4944146	0.85[CEU][hapmap]
rs4945150	0.84[CEU][hapmap];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4945151	0.81[CEU][hapmap]
rs4945153	0.85[CEU][hapmap]
rs7104528	0.81[CEU][hapmap]
rs7122221	0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7924655	0.81[CEU][hapmap]
rs7937262	0.83[CEU][hapmap]
rs7943982	0.85[CEU][hapmap]

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	esv1816632	chr11:76751285-76927014	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4944147	RSF1	cis	cerebellum	SCAN

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:76864800-76882200	Weak transcription	HepG2	liver
2	chr11:76865000-76882800	Strong transcription	Fetal Intestine Large	intestine
3	chr11:76865600-76882000	Strong transcription	Fetal Intestine Small	intestine
4	chr11:76869400-76889200	Weak transcription	Pancreas	Pancrea
5	chr11:76873600-76883000	Weak transcription	Ovary	ovary
6	chr11:76876400-76882800	Weak transcription	Esophagus	oesophagus
7	chr11:76877600-76884000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr11:76878000-76881200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr11:76878800-76881400	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr11:76879000-76881000	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr11:76879000-76881200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr11:76879000-76881400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr11:76879000-76884200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr11:76879200-76882000	Weak transcription	Liver	Liver
15	chr11:76879200-76882800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr11:76879200-76882800	Weak transcription	Spleen	Spleen
17	chr11:76879200-76884000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr11:76879200-76884200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr11:76879400-76883600	Weak transcription	Primary hematopoietic stem cells	blood
20	chr11:76879400-76883600	Weak transcription	HUVEC	blood vessel
21	chr11:76880200-76882800	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr11:76880200-76883800	Enhancers	Placenta	Placenta
23	chr11:76880200-76887600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr11:76880400-76880600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr11:76880400-76916600	Weak transcription	Right Atrium	heart

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