Variant report

Variant	rs1670188
Chromosome Location	chr8:124172267-124172268
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:24)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:24 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:124172170..124173373-chr8:124203108..124203740,5	MCF-7	breast:
2	chr8:124169792..124172771-chr8:124238701..124240381,2	K562	blood:
3	chr8:124164274..124174107-chr8:124177179..124181294,15	K562	blood:
4	chr8:124171651..124174347-chr8:124191271..124192791,2	MCF-7	breast:
5	chr8:124167110..124168652-chr8:124170200..124172879,2	MCF-7	breast:
6	chr8:124053032..124054921-chr8:124170087..124173006,2	K562	blood:
7	chr8:124169245..124176335-chr8:124192965..124197106,7	MCF-7	breast:
8	chr8:124170216..124172878-chr8:124279166..124281572,2	MCF-7	breast:
9	chr8:124168117..124171297-chr8:124171831..124175255,6	K562	blood:
10	chr8:124166527..124173335-chr8:124188357..124196720,12	K562	blood:
11	chr8:124172234..124173328-chr8:124232518..124233542,12	MCF-7	breast:
12	chr8:124170086..124172909-chr8:124175029..124176545,2	MCF-7	breast:
13	chr8:124172180..124173617-chr8:124232329..124233727,43	MCF-7	breast:
14	chr8:124162829..124164845-chr8:124169567..124172468,2	K562	blood:
15	chr8:124171432..124174128-chr8:124286899..124289260,2	MCF-7	breast:
16	chr8:124169718..124172517-chr8:124190502..124192468,2	MCF-7	breast:
17	chr8:123791785..123795272-chr8:124167188..124172743,5	MCF-7	breast:
18	chr8:124171361..124173486-chr8:124193492..124195637,4	MCF-7	breast:
19	chr8:124171738..124174563-chr8:124175786..124180198,3	MCF-7	breast:
20	chr8:124168721..124173901-chr8:124230598..124235089,6	MCF-7	breast:
21	chr8:124171396..124176501-chr8:124228974..124234727,7	MCF-7	breast:
22	chr8:124169796..124172486-chr8:124265107..124268007,2	K562	blood:
23	chr8:124172226..124173291-chr8:124203205..124204142,6	MCF-7	breast:
24	chr8:124167900..124173832-chr8:124175566..124180994,14	K562	blood:

No data

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

Extended variants
information (count: 47 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10481150	0.81[JPT][hapmap]
rs10505429	0.81[GIH][hapmap];0.81[TSI][hapmap]
rs10956118	0.81[TSI][hapmap]
rs12547393	0.81[TSI][hapmap]
rs1563015	0.90[CHB][hapmap];0.80[JPT][hapmap]
rs1563016	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs1670173	0.86[CHB][hapmap];0.86[CHD][hapmap];0.81[JPT][hapmap]
rs1670178	0.86[CHB][hapmap];0.89[CHD][hapmap];0.81[JPT][hapmap]
rs1670182	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1670189	1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs1670190	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]
rs16898012	0.82[CEU][hapmap];0.84[TSI][hapmap]
rs1713735	0.84[EUR][1000 genomes]
rs1713736	0.82[CEU][hapmap];0.81[JPT][hapmap];0.94[TSI][hapmap];0.82[YRI][hapmap];0.83[EUR][1000 genomes]
rs1713738	0.86[CHB][hapmap];0.89[CHD][hapmap];0.81[JPT][hapmap]
rs17322971	0.92[CHB][hapmap];0.81[JPT][hapmap]
rs17323019	0.92[CHB][hapmap];0.81[JPT][hapmap]
rs17375962	0.90[CHB][hapmap];0.85[JPT][hapmap]
rs17376270	0.86[CHB][hapmap];0.85[CHD][hapmap];0.81[JPT][hapmap];0.82[TSI][hapmap]
rs17376305	0.86[CHB][hapmap];0.85[CHD][hapmap];0.81[JPT][hapmap];0.82[TSI][hapmap]
rs2385072	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs2385165	0.82[CEU][hapmap];0.82[TSI][hapmap]
rs2385166	0.82[CEU][hapmap]
rs3107193	0.86[CHB][hapmap];0.89[CHD][hapmap];0.81[JPT][hapmap];0.82[MKK][hapmap];0.81[TSI][hapmap];0.84[AMR][1000 genomes]
rs3107194	0.86[CHB][hapmap];0.89[CHD][hapmap];0.81[JPT][hapmap]
rs3739291	0.86[CHB][hapmap];0.82[CHD][hapmap];0.86[MKK][hapmap]
rs4300008	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs6987091	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs6987128	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs6987216	0.86[CHB][hapmap];0.85[CHD][hapmap];0.81[JPT][hapmap];0.82[TSI][hapmap]
rs7000107	0.82[CEU][hapmap];0.82[TSI][hapmap]
rs7002086	0.82[CEU][hapmap];0.85[TSI][hapmap]
rs7008277	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs7008474	0.90[CEU][hapmap];0.81[JPT][hapmap];0.94[TSI][hapmap];0.85[EUR][1000 genomes]
rs7011195	0.86[CHB][hapmap];0.85[CHD][hapmap];0.81[JPT][hapmap];0.82[TSI][hapmap]
rs7011341	0.81[JPT][hapmap]
rs7813708	0.81[MKK][hapmap]
rs7822076	0.86[CHB][hapmap];0.85[CHD][hapmap];0.81[JPT][hapmap]
rs7828295	0.82[CEU][hapmap];0.82[TSI][hapmap]
rs7834180	0.82[CEU][hapmap]
rs7844632	0.81[GIH][hapmap];0.81[TSI][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
rs1670188	WDR67	cis	parietal	SCAN
rs1670188	C8orf76	cis	parietal	SCAN

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124170200-124173400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
2	chr8:124170800-124172600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr8:124170800-124172800	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr8:124171000-124172400	Weak transcription	Primary T cells from cord blood	blood
5	chr8:124171000-124172400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr8:124171000-124172400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr8:124171000-124172600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr8:124171000-124173000	Weak transcription	Small Intestine	intestine
9	chr8:124171200-124172400	Weak transcription	Primary B cells from cord blood	blood
10	chr8:124171200-124172400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr8:124171200-124172400	Weak transcription	Liver	Liver
12	chr8:124171400-124172400	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr8:124171400-124172400	Weak transcription	Colon Smooth Muscle	Colon
14	chr8:124171400-124172600	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr8:124171400-124172600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr8:124171400-124172600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr8:124171400-124172600	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr8:124171400-124172600	Weak transcription	Primary hematopoietic stem cells	blood
19	chr8:124171400-124172600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr8:124171400-124172600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr8:124171400-124172600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr8:124171400-124172600	Weak transcription	Esophagus	oesophagus
23	chr8:124171400-124172600	Enhancers	Fetal Kidney	kidney
24	chr8:124171400-124172600	Weak transcription	Gastric	stomach
25	chr8:124171400-124172600	Weak transcription	Lung	lung
26	chr8:124171400-124172600	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr8:124171400-124172600	Weak transcription	Rectal Smooth Muscle	rectum
28	chr8:124171400-124172600	Weak transcription	Right Atrium	heart
29	chr8:124171400-124172600	Weak transcription	Right Ventricle	heart
30	chr8:124171400-124172600	Weak transcription	Spleen	Spleen
31	chr8:124171400-124172600	Weak transcription	HSMM	muscle
32	chr8:124171400-124172600	Weak transcription	NH-A	brain
33	chr8:124171400-124172800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr8:124171400-124172800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr8:124171400-124172800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr8:124171400-124172800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr8:124171400-124172800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr8:124171400-124172800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr8:124171400-124172800	Weak transcription	Aorta	Aorta
40	chr8:124171400-124172800	Weak transcription	Placenta	Placenta
41	chr8:124171400-124172800	Weak transcription	Left Ventricle	heart
42	chr8:124171400-124172800	Weak transcription	Pancreas	Pancrea
43	chr8:124171400-124172800	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr8:124171400-124172800	Weak transcription	Psoas Muscle	Psoas
45	chr8:124171400-124172800	Weak transcription	HSMMtube	muscle
46	chr8:124171600-124172400	Enhancers	Brain Hippocampus Middle	brain
47	chr8:124171600-124172400	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr8:124171600-124172400	Weak transcription	Stomach Smooth Muscle	stomach
49	chr8:124171600-124172400	Enhancers	Hela-S3	cervix
50	chr8:124171600-124172400	Enhancers	NHEK	skin

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