Variant report

Variant	rs4697018
Chromosome Location	chr4:22510210-22510211
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:22507819..22511270-chr4:22511320..22514443,4	MCF-7	breast:
2	chr4:22508191..22514199-chr4:22515176..22519559,12	MCF-7	breast:
3	chr4:22505951..22512123-chr4:22514706..22518696,9	MCF-7	breast:

Variant related genes	Relation type
ENSG00000152990	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10009861	0.83[ASN][1000 genomes]
rs11728370	0.88[CHB][hapmap];0.81[JPT][hapmap]
rs12504167	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12648279	0.83[ASN][1000 genomes]
rs13103323	0.83[ASN][1000 genomes]
rs13113896	0.95[CHB][hapmap];0.89[JPT][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13115916	0.89[ASN][1000 genomes]
rs13135791	0.95[ASN][1000 genomes]
rs1381915	0.91[CHB][hapmap];0.89[JPT][hapmap];0.90[ASN][1000 genomes]
rs1462987	0.91[CHB][hapmap];0.94[JPT][hapmap];0.90[ASN][1000 genomes]
rs1462988	0.91[CHB][hapmap]
rs16872759	0.86[CHB][hapmap];0.94[JPT][hapmap];0.83[ASN][1000 genomes]
rs1841822	0.90[ASN][1000 genomes]
rs1841823	0.95[CHB][hapmap];0.83[ASN][1000 genomes]
rs2045817	0.90[ASN][1000 genomes]
rs4495025	0.92[ASN][1000 genomes]
rs4631026	0.91[CHB][hapmap];0.89[JPT][hapmap];0.89[ASN][1000 genomes]
rs4697308	0.81[ASN][1000 genomes]
rs4697309	0.83[ASN][1000 genomes]
rs4697312	0.94[ASN][1000 genomes]
rs6448162	0.82[ASN][1000 genomes]
rs6818676	0.91[CHB][hapmap];0.94[JPT][hapmap];0.90[ASN][1000 genomes]
rs73114193	0.80[ASN][1000 genomes]
rs73114194	0.80[ASN][1000 genomes]
rs7670164	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7692390	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7697048	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][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	esv3349061	chr4:22379581-22887563	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv821634	chr4:22427074-22865948	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:22488600-22516000	Weak transcription	Primary hematopoietic stem cells	blood
2	chr4:22497000-22515600	Weak transcription	Fetal Stomach	stomach
3	chr4:22500400-22510600	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr4:22500400-22510600	Enhancers	HMEC	breast
5	chr4:22500600-22510800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr4:22502200-22515600	Weak transcription	Primary T cells from cord blood	blood
7	chr4:22502800-22515600	Weak transcription	Fetal Kidney	kidney
8	chr4:22503200-22515600	Weak transcription	NHDF-Ad	bronchial
9	chr4:22504000-22514200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr4:22504800-22510800	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr4:22504800-22512200	Weak transcription	Duodenum Mucosa	Duodenum
12	chr4:22504800-22513400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr4:22504800-22514200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr4:22505000-22515200	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr4:22505200-22512200	Weak transcription	Fetal Intestine Large	intestine
16	chr4:22505400-22511800	Weak transcription	Fetal Intestine Small	intestine
17	chr4:22505400-22515400	Weak transcription	A549	lung
18	chr4:22505600-22510400	Enhancers	Liver	Liver
19	chr4:22505600-22513200	Weak transcription	Fetal Muscle Trunk	muscle
20	chr4:22505600-22515600	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr4:22506000-22510800	Enhancers	H9 Cell Line	embryonic stem cell
22	chr4:22506200-22510800	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr4:22506400-22511800	Weak transcription	Left Ventricle	heart
24	chr4:22506400-22513800	Weak transcription	Brain Germinal Matrix	brain
25	chr4:22506600-22511800	Weak transcription	Esophagus	oesophagus
26	chr4:22506600-22515800	Weak transcription	Aorta	Aorta
27	chr4:22506800-22511800	Weak transcription	Right Ventricle	heart
28	chr4:22507000-22515200	Weak transcription	HSMM	muscle
29	chr4:22507200-22510600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr4:22507400-22515400	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr4:22507600-22510600	Enhancers	HepG2	liver
32	chr4:22507600-22516200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr4:22508000-22514400	Weak transcription	Ovary	ovary
34	chr4:22508000-22516200	Weak transcription	Small Intestine	intestine
35	chr4:22508200-22513200	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr4:22508400-22516000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr4:22508600-22515800	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr4:22508800-22510400	Enhancers	Colon Smooth Muscle	Colon
39	chr4:22508800-22510800	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr4:22508800-22510800	Enhancers	Psoas Muscle	Psoas
41	chr4:22509000-22510600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr4:22509000-22510600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr4:22509000-22510800	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr4:22509000-22510800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr4:22509000-22510800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr4:22509000-22510800	Enhancers	NHLF	lung
47	chr4:22509200-22510400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr4:22509200-22510400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr4:22509200-22510400	Enhancers	Fetal Lung	lung
50	chr4:22509200-22510600	Enhancers	Brain Anterior Caudate	brain

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