Variant report

Variant	rs934323
Chromosome Location	chr8:125630655-125630656
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:125628662..125631478-chr8:125658483..125661336,2	MCF-7	breast:
2	chr8:125623032..125625031-chr8:125629309..125631015,2	K562	blood:
3	chr8:125623069..125624735-chr8:125628903..125630679,2	K562	blood:
4	chr8:125628848..125630797-chr8:125740676..125742783,2	MCF-7	breast:
5	chr8:125574370..125578079-chr8:125630160..125632086,3	MCF-7	breast:
6	chr8:125628680..125631257-chr8:125639768..125642424,2	K562	blood:
7	chr8:125625138..125627927-chr8:125628466..125631300,2	K562	blood:
8	chr8:125629075..125631557-chr8:125633717..125635693,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000170873	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1023694	1.00[CEU][hapmap];0.81[CHB][hapmap];0.85[AMR][1000 genomes]
rs11780712	0.94[ASN][1000 genomes]
rs12545201	1.00[ASW][hapmap]
rs12545265	1.00[ASW][hapmap]
rs16893079	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16899847	0.85[AMR][1000 genomes]
rs16899858	0.91[MEX][hapmap];0.95[AMR][1000 genomes]
rs16899867	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16899868	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16899870	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16899873	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16899876	1.00[CEU][hapmap];0.92[CHB][hapmap];0.91[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1978662	0.93[CHB][hapmap];0.92[CHD][hapmap];0.91[JPT][hapmap];0.94[ASN][1000 genomes]
rs3750231	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4871521	0.92[ASN][1000 genomes]
rs919543	1.00[CEU][hapmap];0.81[CHB][hapmap];0.87[CHD][hapmap];0.90[JPT][hapmap]
rs919547	1.00[AMR][1000 genomes];1.00[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	nsv1027585	chr8:125627924-125707738	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
2	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125617600-125631400	Enhancers	Skeletal Muscle Male	skeletal muscle
2	chr8:125618000-125632800	Weak transcription	HUVEC	blood vessel
3	chr8:125618000-125640400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr8:125619200-125630800	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr8:125619200-125649000	Weak transcription	Colonic Mucosa	Colon
6	chr8:125621800-125631400	Weak transcription	Esophagus	oesophagus
7	chr8:125623200-125630800	Weak transcription	Pancreas	Pancrea
8	chr8:125623200-125631600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr8:125623400-125630800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr8:125624200-125633800	Enhancers	Brain Hippocampus Middle	brain
11	chr8:125624800-125631200	Enhancers	Brain Germinal Matrix	brain
12	chr8:125624800-125633000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr8:125625200-125634400	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr8:125625400-125632200	Weak transcription	Primary hematopoietic stem cells	blood
15	chr8:125626000-125630800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr8:125626400-125630800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr8:125626400-125631400	Enhancers	Adipose Nuclei	Adipose
18	chr8:125626400-125631400	Weak transcription	NHEK	skin
19	chr8:125626400-125638800	Weak transcription	HMEC	breast
20	chr8:125626600-125635600	Enhancers	Fetal Heart	heart
21	chr8:125627000-125633400	Enhancers	Duodenum Smooth Muscle	Duodenum
22	chr8:125627000-125633600	Enhancers	Brain Cingulate Gyrus	brain
23	chr8:125627200-125631400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr8:125627200-125631600	Enhancers	HepG2	liver
25	chr8:125627200-125632800	Enhancers	Brain Inferior Temporal Lobe	brain
26	chr8:125627200-125633000	Enhancers	Brain Angular Gyrus	brain
27	chr8:125627200-125633400	Enhancers	Brain Substantia Nigra	brain
28	chr8:125627200-125633600	Enhancers	Brain Anterior Caudate	brain
29	chr8:125627200-125633800	Enhancers	Placenta	Placenta
30	chr8:125627200-125634200	Enhancers	Fetal Muscle Leg	muscle
31	chr8:125627200-125635400	Enhancers	Fetal Thymus	thymus
32	chr8:125627200-125635400	Enhancers	Left Ventricle	heart
33	chr8:125627200-125635400	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr8:125627600-125631400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr8:125627800-125632800	Weak transcription	K562	blood
36	chr8:125627800-125633600	Weak transcription	GM12878-XiMat	blood
37	chr8:125628000-125631600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr8:125628200-125634600	Enhancers	Right Ventricle	heart
39	chr8:125628600-125631400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr8:125628600-125631400	Weak transcription	Spleen	Spleen
41	chr8:125628600-125631600	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr8:125628600-125633600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr8:125628800-125631400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr8:125628800-125632800	Weak transcription	Fetal Kidney	kidney
45	chr8:125629000-125633400	Enhancers	NHDF-Ad	bronchial
46	chr8:125629000-125633600	Enhancers	HSMMtube	muscle
47	chr8:125629200-125632400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr8:125629200-125633800	Enhancers	Right Atrium	heart
49	chr8:125629400-125634200	Enhancers	Fetal Muscle Trunk	muscle
50	chr8:125629400-125634200	Enhancers	Psoas Muscle	Psoas

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links