Variant report

Variant	rs71622697
Chromosome Location	chr1:150360098-150360099
allele	A/C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:150359587..150362203-chr1:150373246..150374759,2	K562	blood:
2	chr1:150344693..150350764-chr1:150356084..150361525,10	MCF-7	breast:

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs11799813	0.88[EUR][1000 genomes]
rs11800656	0.88[EUR][1000 genomes]
rs11801255	0.88[EUR][1000 genomes]
rs11802612	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11803448	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11806171	0.84[EUR][1000 genomes]
rs11807119	0.91[EUR][1000 genomes]
rs11809332	0.84[EUR][1000 genomes]
rs12718416	0.81[EUR][1000 genomes]
rs12723364	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12730265	0.84[EUR][1000 genomes]
rs12733783	0.86[EUR][1000 genomes]
rs12735903	0.95[EUR][1000 genomes]
rs12743761	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12749958	0.81[EUR][1000 genomes]
rs12756583	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12759551	0.88[EUR][1000 genomes]
rs28495360	0.86[EUR][1000 genomes]
rs34001546	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34233130	0.84[EUR][1000 genomes]
rs34307322	0.88[EUR][1000 genomes]
rs34448981	0.84[EUR][1000 genomes]
rs34629240	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34696422	0.88[EUR][1000 genomes]
rs34964511	0.82[EUR][1000 genomes]
rs35094010	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35347210	0.84[EUR][1000 genomes]
rs35437473	0.81[EUR][1000 genomes]
rs35762205	0.81[EUR][1000 genomes]
rs35935423	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4845	0.83[EUR][1000 genomes]
rs56214117	0.88[EUR][1000 genomes]
rs57323357	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs58427317	0.81[EUR][1000 genomes]
rs58853199	0.88[EUR][1000 genomes]
rs71515775	0.84[EUR][1000 genomes]
rs71622689	0.81[EUR][1000 genomes]
rs71622694	0.81[EUR][1000 genomes]
rs71622695	0.88[EUR][1000 genomes]
rs71622696	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs71622698	0.89[EUR][1000 genomes]
rs74124663	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs74124686	0.86[EUR][1000 genomes]
rs7517003	0.81[EUR][1000 genomes]
rs7546610	1.00[AMR][1000 genomes];0.89[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	nsv916014	chr1:150187139-150537483	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	164 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150338400-150405200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:150339400-150372800	Weak transcription	Fetal Muscle Leg	muscle
3	chr1:150339400-150390600	Weak transcription	Fetal Muscle Trunk	muscle
4	chr1:150339600-150372800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr1:150339800-150368600	Weak transcription	Primary hematopoietic stem cells	blood
6	chr1:150339800-150390000	Weak transcription	Thymus	Thymus
7	chr1:150340000-150362000	Weak transcription	Primary B cells from cord blood	blood
8	chr1:150340000-150416800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr1:150340600-150366800	Weak transcription	Fetal Brain Female	brain
10	chr1:150342800-150361600	Weak transcription	Fetal Thymus	thymus
11	chr1:150343400-150378000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr1:150343600-150361400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr1:150343800-150378600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr1:150344000-150361600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr1:150346800-150361600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr1:150347000-150392400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr1:150347200-150361000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr1:150347200-150361400	Weak transcription	Primary B cells from peripheral blood	blood
19	chr1:150347200-150361600	Weak transcription	Psoas Muscle	Psoas
20	chr1:150347200-150362000	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr1:150347200-150372400	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr1:150347200-150380000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr1:150347800-150361600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr1:150347800-150362200	Weak transcription	Rectal Smooth Muscle	rectum
25	chr1:150348000-150390400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr1:150348400-150372600	Weak transcription	Hela-S3	cervix
27	chr1:150348600-150361800	Weak transcription	Brain Angular Gyrus	brain
28	chr1:150348600-150362000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr1:150348600-150362200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr1:150349000-150362000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr1:150349000-150372000	Weak transcription	Fetal Lung	lung
32	chr1:150352600-150363600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr1:150355600-150369600	Weak transcription	Fetal Stomach	stomach
34	chr1:150355600-150382000	Weak transcription	Lung	lung
35	chr1:150356200-150360800	Enhancers	Liver	Liver
36	chr1:150356400-150381400	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr1:150356800-150361800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr1:150356800-150362000	Weak transcription	Brain Cingulate Gyrus	brain
39	chr1:150356800-150362000	Weak transcription	Right Ventricle	heart
40	chr1:150356800-150370200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr1:150357600-150362000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
42	chr1:150358400-150361800	Enhancers	Primary T helper cells PMA-I stimulated	--
43	chr1:150358600-150360800	Enhancers	Fetal Intestine Large	intestine
44	chr1:150358800-150360200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
45	chr1:150359000-150360400	Enhancers	Duodenum Smooth Muscle	Duodenum
46	chr1:150359000-150360800	Enhancers	Fetal Intestine Small	intestine
47	chr1:150359000-150361600	Weak transcription	Gastric	stomach
48	chr1:150359000-150361600	Weak transcription	Right Atrium	heart
49	chr1:150359000-150362200	Enhancers	Primary T helper cells fromperipheralblood	blood
50	chr1:150359000-150366000	Weak transcription	Spleen	Spleen

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