Variant report

Variant	rs4623856
Chromosome Location	chr11:47639525-47639526
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:47626940..47628624-chr11:47637270..47639878,2	MCF-7	breast:
2	chr11:47638979..47640654-chr11:47662400..47665038,2	K562	blood:
3	chr11:47556504..47558457-chr11:47638712..47641328,2	K562	blood:

Variant related genes	Relation type
ENSG00000109919	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10690121	1.00[AMR][1000 genomes]
rs10769279	1.00[AMR][1000 genomes]
rs10769281	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10769283	1.00[AMR][1000 genomes]
rs10769293	1.00[MEX][hapmap]
rs10838735	1.00[ASW][hapmap];0.92[LWK][hapmap];0.97[MKK][hapmap];0.82[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11039261	1.00[TSI][hapmap]
rs11039309	1.00[AMR][1000 genomes]
rs11039312	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12286241	1.00[MKK][hapmap];1.00[TSI][hapmap]
rs12289442	1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap]
rs2125835	1.00[EUR][1000 genomes]
rs2233354	1.00[ASW][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4256934	1.00[ASW][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4284367	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4303193	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4331047	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4418760	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4434961	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4486587	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4498952	0.82[AFR][1000 genomes]
rs4752859	1.00[AMR][1000 genomes]
rs4752863	1.00[MEX][hapmap]
rs6416137	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6485760	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6485762	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6485764	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7103092	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7103351	0.88[AFR][1000 genomes]
rs7105845	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7106293	0.84[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[AMR][1000 genomes]
rs7107473	1.00[AMR][1000 genomes]
rs7109012	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7118271	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7119578	0.91[AFR][1000 genomes]
rs7129821	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7130715	1.00[MEX][hapmap]
rs7941173	0.96[AFR][1000 genomes]
rs7949024	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832142	chr11:47517955-47681310	Weak transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv825872	chr11:47565425-47660330	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47617600-47643200	Weak transcription	Rectal Smooth Muscle	rectum
2	chr11:47621000-47640400	Weak transcription	Fetal Brain Female	brain
3	chr11:47621600-47647600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr11:47621800-47642000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr11:47627800-47643200	Weak transcription	Pancreas	Pancrea
6	chr11:47628800-47642000	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr11:47629400-47639600	Weak transcription	HMEC	breast
8	chr11:47629800-47640800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr11:47629800-47642400	Weak transcription	Colon Smooth Muscle	Colon
10	chr11:47630000-47639800	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr11:47630000-47641200	Weak transcription	Small Intestine	intestine
12	chr11:47630000-47642200	Weak transcription	Fetal Brain Male	brain
13	chr11:47630200-47639600	Weak transcription	Fetal Muscle Trunk	muscle
14	chr11:47630200-47640200	Weak transcription	HSMM	muscle
15	chr11:47630400-47648600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr11:47630400-47649600	Weak transcription	Fetal Heart	heart
17	chr11:47631200-47642400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr11:47631400-47640600	Weak transcription	Brain Germinal Matrix	brain
19	chr11:47633000-47640600	Weak transcription	Aorta	Aorta
20	chr11:47633000-47641800	Weak transcription	Spleen	Spleen
21	chr11:47633200-47641400	Weak transcription	Gastric	stomach
22	chr11:47633200-47642000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr11:47633200-47642000	Weak transcription	Esophagus	oesophagus
24	chr11:47633600-47641400	Weak transcription	Psoas Muscle	Psoas
25	chr11:47633600-47647200	Weak transcription	Right Ventricle	heart
26	chr11:47633800-47640600	Weak transcription	Lung	lung
27	chr11:47633800-47641800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr11:47635000-47642400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr11:47635400-47642000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr11:47635400-47643200	Weak transcription	Brain Cingulate Gyrus	brain
31	chr11:47635600-47640400	Weak transcription	NHEK	skin
32	chr11:47635800-47643200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr11:47636400-47642000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr11:47636600-47641800	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr11:47636600-47661400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr11:47636800-47640600	Strong transcription	A549	lung
37	chr11:47636800-47653800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr11:47637000-47653400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr11:47637600-47640200	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
40	chr11:47637600-47648800	Strong transcription	Fetal Intestine Large	intestine
41	chr11:47637600-47650800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr11:47637600-47653200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
43	chr11:47637600-47653200	Strong transcription	Liver	Liver
44	chr11:47637600-47657200	Strong transcription	Primary B cells from peripheral blood	blood
45	chr11:47637600-47660800	Strong transcription	Primary neutrophils fromperipheralblood	blood
46	chr11:47637600-47661200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr11:47637600-47663200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
48	chr11:47637800-47641000	Strong transcription	Primary T cells from cord blood	blood
49	chr11:47637800-47642400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
50	chr11:47637800-47653200	Strong transcription	Left Ventricle	heart

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