Variant report

Variant	rs1670190
Chromosome Location	chr8:124171479-124171480
allele	C/T
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:23)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:124169792..124172771-chr8:124238701..124240381,2	K562	blood:
2	chr8:124164274..124174107-chr8:124177179..124181294,15	K562	blood:
3	chr8:124167110..124168652-chr8:124170200..124172879,2	MCF-7	breast:
4	chr8:124053032..124054921-chr8:124170087..124173006,2	K562	blood:
5	chr8:124169245..124176335-chr8:124192965..124197106,7	MCF-7	breast:
6	chr8:124170216..124172878-chr8:124279166..124281572,2	MCF-7	breast:
7	chr8:124167057..124172229-chr8:124191118..124196313,7	K562	blood:
8	chr8:124166527..124173335-chr8:124188357..124196720,12	K562	blood:
9	chr8:124170086..124172909-chr8:124175029..124176545,2	MCF-7	breast:
10	chr8:124162829..124164845-chr8:124169567..124172468,2	K562	blood:
11	chr8:124169009..124171699-chr8:124285530..124287388,2	K562	blood:
12	chr8:124171432..124174128-chr8:124286899..124289260,2	MCF-7	breast:
13	chr8:124169718..124172517-chr8:124190502..124192468,2	MCF-7	breast:
14	chr8:123791785..123795272-chr8:124167188..124172743,5	MCF-7	breast:
15	chr8:124171361..124173486-chr8:124193492..124195637,4	MCF-7	breast:
16	chr8:124165080..124167833-chr8:124169461..124172051,4	K562	blood:
17	chr8:124168721..124173901-chr8:124230598..124235089,6	MCF-7	breast:
18	chr8:124171396..124176501-chr8:124228974..124234727,7	MCF-7	breast:
19	chr8:124169796..124172486-chr8:124265107..124268007,2	K562	blood:
20	chr8:124167743..124172035-chr8:124177154..124180052,5	MCF-7	breast:
21	chr8:124168965..124171699-chr8:124285883..124287388,2	K562	blood:
22	chr8:124169638..124172038-chr8:124212201..124215441,3	MCF-7	breast:
23	chr8:124167900..124173832-chr8:124175566..124180994,14	K562	blood:

No data

Variant related genes	Relation type
ENSG00000221461	Chromatin interaction
ENSG00000259305	Chromatin interaction
ENSG00000147689	Chromatin interaction
ENSG00000156787	Chromatin interaction
ENSG00000272384	Chromatin interaction
ENSG00000178764	Chromatin interaction
ENSG00000165156	Chromatin interaction
ENSG00000136986	Chromatin interaction
ENSG00000204949	Chromatin interaction
ENSG00000253258	Chromatin interaction
ENSG00000272043	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10101626	0.82[CHB][hapmap]
rs10481150	0.83[CHB][hapmap];0.87[JPT][hapmap];0.81[ASN][1000 genomes]
rs10505429	0.81[GIH][hapmap]
rs1670173	0.82[CHD][hapmap]
rs1670178	0.85[CHD][hapmap]
rs1670182	0.80[EUR][1000 genomes]
rs1670188	1.00[CEU][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];0.97[TSI][hapmap];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1670189	0.96[CHD][hapmap];0.83[GIH][hapmap];0.93[JPT][hapmap];0.83[ASN][1000 genomes]
rs16898012	0.82[CEU][hapmap];0.81[TSI][hapmap]
rs1713734	0.82[ASN][1000 genomes]
rs1713735	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1713736	0.82[CEU][hapmap];0.89[CHB][hapmap];0.87[JPT][hapmap];0.91[TSI][hapmap];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1713738	0.85[CHD][hapmap]
rs17376270	0.82[CHD][hapmap]
rs17376305	0.82[CHD][hapmap]
rs2272723	0.82[CHB][hapmap]
rs2385165	0.82[CEU][hapmap]
rs2385166	0.82[CEU][hapmap]
rs3107193	0.85[CHD][hapmap]
rs3107194	0.85[CHD][hapmap]
rs6987216	0.82[CHD][hapmap]
rs7000107	0.82[CEU][hapmap]
rs7002086	0.82[CEU][hapmap];0.82[TSI][hapmap]
rs7008474	0.90[CEU][hapmap];0.83[CHB][hapmap];0.87[JPT][hapmap];0.91[TSI][hapmap];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7011195	0.82[CHD][hapmap]
rs7822076	0.82[CHD][hapmap]
rs7828295	0.82[CEU][hapmap]
rs7834180	0.82[CEU][hapmap]
rs7844632	0.82[CHB][hapmap];0.81[GIH][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032827	chr8:123668081-124270400	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv529364	chr8:123763846-124373809	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	nsv429939	chr8:124027819-124180819	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv1028933	chr8:124065484-124181718	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
5	nsv1015249	chr8:124103504-124373949	Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	nsv539741	chr8:124103504-124373949	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1670190	WDR67	cis	parietal	SCAN
rs1670190	C8orf76	cis	parietal	SCAN

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124168600-124171800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr8:124168800-124171600	Active TSS	Brain Angular Gyrus	brain
3	chr8:124168800-124171600	Active TSS	Brain Cingulate Gyrus	brain
4	chr8:124168800-124171800	Active TSS	Duodenum Smooth Muscle	Duodenum
5	chr8:124168800-124172200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
6	chr8:124169000-124171600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr8:124169000-124171600	Active TSS	Brain Anterior Caudate	brain
8	chr8:124169000-124171600	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr8:124169200-124171600	Active TSS	Fetal Brain Female	brain
10	chr8:124169400-124171600	Active TSS	NHDF-Ad	bronchial
11	chr8:124170000-124171800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
12	chr8:124170200-124171600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
13	chr8:124170200-124171600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
14	chr8:124170200-124171600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
15	chr8:124170200-124173400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
16	chr8:124170400-124171600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
17	chr8:124170400-124171600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr8:124170400-124171600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
19	chr8:124170400-124171600	Flanking Active TSS	Osteobl	bone
20	chr8:124170600-124171600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr8:124170600-124171600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr8:124170600-124171600	Flanking Active TSS	Fetal Muscle Trunk	muscle
23	chr8:124170600-124171800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr8:124170800-124171600	Enhancers	Primary B cells from peripheral blood	blood
25	chr8:124170800-124171600	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
26	chr8:124170800-124171600	Flanking Active TSS	Hela-S3	cervix
27	chr8:124170800-124171600	Flanking Active TSS	NHLF	lung
28	chr8:124170800-124172200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr8:124170800-124172600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr8:124170800-124172800	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr8:124171000-124171600	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr8:124171000-124171600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr8:124171000-124171600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr8:124171000-124171600	Flanking Active TSS	Brain Hippocampus Middle	brain
35	chr8:124171000-124171600	Flanking Active TSS	Brain Substantia Nigra	brain
36	chr8:124171000-124171600	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
37	chr8:124171000-124171600	Flanking Active TSS	Fetal Lung	lung
38	chr8:124171000-124171600	Flanking Active TSS	HUVEC	blood vessel
39	chr8:124171000-124171600	Flanking Active TSS	NHEK	skin
40	chr8:124171000-124172200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr8:124171000-124172200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr8:124171000-124172400	Weak transcription	Primary T cells from cord blood	blood
43	chr8:124171000-124172400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr8:124171000-124172400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr8:124171000-124172600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr8:124171000-124173000	Weak transcription	Small Intestine	intestine
47	chr8:124171200-124171600	Flanking Active TSS	Brain Germinal Matrix	brain
48	chr8:124171200-124171600	Active TSS	Brain Inferior Temporal Lobe	brain
49	chr8:124171200-124171600	Flanking Active TSS	Fetal Heart	heart
50	chr8:124171200-124171600	Flanking Active TSS	A549	lung

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