Variant report

Variant	rs4637871
Chromosome Location	chr8:117760264-117760265
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	chr8:117754265..117756372-chr8:117757780..117760636,2	MCF-7	breast:
2	chr8:117759137..117761525-chr8:117766444..117768134,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000147677	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10089833	0.96[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10108262	0.81[ASN][1000 genomes]
rs10111411	0.91[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs10156225	0.96[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10808483	0.91[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11775890	0.96[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11779352	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12155774	0.96[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12375316	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12547079	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12547108	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13257365	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13260809	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13264928	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28431802	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34007155	0.89[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs35792844	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4129066	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4304349	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4344109	0.96[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4406425	0.90[AMR][1000 genomes]
rs4876673	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4876677	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4876678	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62510182	0.96[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6469659	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6995719	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6995838	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7004009	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7011256	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9792358	0.82[AMR][1000 genomes];0.85[ASN][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	nsv530386	chr8:117509968-118391406	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:117733600-117766600	Weak transcription	Fetal Lung	lung
2	chr8:117733600-117766800	Weak transcription	Adipose Nuclei	Adipose
3	chr8:117734400-117762000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr8:117734400-117766800	Weak transcription	Fetal Stomach	stomach
5	chr8:117734600-117766200	Weak transcription	Fetal Muscle Leg	muscle
6	chr8:117734600-117766400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr8:117734600-117766800	Weak transcription	Fetal Intestine Small	intestine
8	chr8:117734600-117767200	Weak transcription	Fetal Muscle Trunk	muscle
9	chr8:117734800-117766200	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr8:117735000-117766000	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr8:117735000-117766200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr8:117737400-117766600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr8:117737600-117766800	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr8:117737800-117767200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr8:117738200-117766400	Weak transcription	Placenta	Placenta
16	chr8:117738400-117764200	Weak transcription	Primary hematopoietic stem cells	blood
17	chr8:117739000-117766000	Weak transcription	Liver	Liver
18	chr8:117739800-117760800	Weak transcription	Dnd41	blood
19	chr8:117741000-117766800	Weak transcription	Duodenum Mucosa	Duodenum
20	chr8:117741200-117764400	Weak transcription	HepG2	liver
21	chr8:117741200-117767400	Weak transcription	Aorta	Aorta
22	chr8:117742800-117766400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr8:117742800-117767400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr8:117744000-117766800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr8:117744200-117766400	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr8:117744400-117766200	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr8:117745600-117762000	Weak transcription	Left Ventricle	heart
28	chr8:117745600-117766600	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr8:117745600-117766800	Weak transcription	Right Ventricle	heart
30	chr8:117745800-117762000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr8:117745800-117765800	Weak transcription	Brain Hippocampus Middle	brain
32	chr8:117747800-117762000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr8:117748000-117764000	Weak transcription	HMEC	breast
34	chr8:117748200-117767000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr8:117748200-117767400	Weak transcription	Lung	lung
36	chr8:117748400-117766800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr8:117748600-117763600	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr8:117748800-117762000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr8:117748800-117765800	Weak transcription	HUVEC	blood vessel
40	chr8:117748800-117766800	Weak transcription	Psoas Muscle	Psoas
41	chr8:117749000-117766800	Weak transcription	Fetal Intestine Large	intestine
42	chr8:117752600-117765600	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr8:117752600-117766600	Weak transcription	Brain Cingulate Gyrus	brain
44	chr8:117752800-117761600	Weak transcription	NHEK	skin
45	chr8:117752800-117766400	Weak transcription	Small Intestine	intestine
46	chr8:117752800-117766800	Weak transcription	Brain Substantia Nigra	brain
47	chr8:117752800-117766800	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr8:117753000-117766000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr8:117753200-117760800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr8:117753200-117762000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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