Variant report

Variant	rs34865389
Chromosome Location	chr8:39917021-39917022
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:39912165..39914251-chr8:39916476..39919468,4	MCF-7	breast:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10958600	0.87[EUR][1000 genomes]
rs12678264	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13255845	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13265509	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13269057	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13270586	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13270901	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13274781	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13275833	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13277306	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1383603	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1471559	0.83[EUR][1000 genomes]
rs1471561	0.86[EUR][1000 genomes]
rs1481063	0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1600689	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1600690	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2170306	0.85[ASN][1000 genomes]
rs2929095	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2981129	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2981134	0.90[ASN][1000 genomes]
rs2981136	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34882203	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35723433	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35905112	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4299988	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59707583	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60545325	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67207633	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68103082	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7814008	0.86[AMR][1000 genomes]
rs7846287	0.89[EUR][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	nsv539555	chr8:39683857-40673606	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv534582	chr8:39884590-40653224	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:39907600-39919000	Enhancers	HepG2	liver
2	chr8:39912800-39917200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr8:39912800-39917400	Weak transcription	NHLF	lung
4	chr8:39912800-39917600	Weak transcription	Rectal Smooth Muscle	rectum
5	chr8:39912800-39919800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr8:39913000-39939000	Weak transcription	Right Atrium	heart
7	chr8:39913400-39917600	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr8:39913400-39919400	Weak transcription	Aorta	Aorta
9	chr8:39914000-39917400	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr8:39914200-39918600	Weak transcription	Liver	Liver
11	chr8:39915200-39920800	Enhancers	Stomach Mucosa	stomach
12	chr8:39916400-39917200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr8:39916400-39917400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr8:39916400-39918400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr8:39916400-39918400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr8:39916400-39918400	Enhancers	Brain Angular Gyrus	brain
17	chr8:39916400-39918400	Enhancers	HUVEC	blood vessel
18	chr8:39916400-39918800	Enhancers	Small Intestine	intestine
19	chr8:39916400-39919200	Enhancers	Fetal Intestine Small	intestine
20	chr8:39916400-39919400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr8:39916400-39919400	Enhancers	Brain Hippocampus Middle	brain
22	chr8:39916400-39919400	Enhancers	Brain Inferior Temporal Lobe	brain
23	chr8:39916400-39919400	Enhancers	Brain Substantia Nigra	brain
24	chr8:39916400-39919400	Enhancers	Esophagus	oesophagus
25	chr8:39916400-39919800	Enhancers	Colonic Mucosa	Colon
26	chr8:39916400-39919800	Enhancers	Rectal Mucosa Donor 31	rectum
27	chr8:39916400-39920000	Enhancers	Duodenum Mucosa	Duodenum
28	chr8:39916400-39920000	Enhancers	Sigmoid Colon	Sigmoid Colon
29	chr8:39916600-39917800	Flanking Active TSS	A549	lung
30	chr8:39916600-39918600	Weak transcription	Gastric	stomach
31	chr8:39916600-39919000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr8:39916600-39920000	Enhancers	Fetal Intestine Large	intestine
33	chr8:39916800-39917200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr8:39916800-39917600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr8:39916800-39917600	Enhancers	Fetal Lung	lung
36	chr8:39916800-39917600	Weak transcription	Lung	lung
37	chr8:39916800-39917600	Weak transcription	Pancreas	Pancrea
38	chr8:39916800-39917600	Flanking Active TSS	Hela-S3	cervix
39	chr8:39916800-39917600	Enhancers	HSMMtube	muscle
40	chr8:39916800-39917800	Enhancers	NH-A	brain
41	chr8:39916800-39917800	Enhancers	NHDF-Ad	bronchial
42	chr8:39916800-39918400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr8:39916800-39918600	Enhancers	Brain Anterior Caudate	brain
44	chr8:39916800-39919000	Enhancers	Stomach Smooth Muscle	stomach
45	chr8:39916800-39919400	Enhancers	Brain Cingulate Gyrus	brain
46	chr8:39917000-39917800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr8:39917000-39918200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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