Variant report

Variant	rs1713736
Chromosome Location	chr8:124170826-124170827
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:25)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:25 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:124169671..124171262-chr8:124231448..124233023,2	MCF-7	breast:
2	chr8:124169792..124172771-chr8:124238701..124240381,2	K562	blood:
3	chr8:124164274..124174107-chr8:124177179..124181294,15	K562	blood:
4	chr8:124167110..124168652-chr8:124170200..124172879,2	MCF-7	breast:
5	chr8:124053032..124054921-chr8:124170087..124173006,2	K562	blood:
6	chr8:124169245..124176335-chr8:124192965..124197106,7	MCF-7	breast:
7	chr8:124170216..124172878-chr8:124279166..124281572,2	MCF-7	breast:
8	chr8:124167057..124172229-chr8:124191118..124196313,7	K562	blood:
9	chr8:124166527..124173335-chr8:124188357..124196720,12	K562	blood:
10	chr8:124170086..124172909-chr8:124175029..124176545,2	MCF-7	breast:
11	chr8:124162829..124164845-chr8:124169567..124172468,2	K562	blood:
12	chr8:124169009..124171699-chr8:124285530..124287388,2	K562	blood:
13	chr8:124169199..124171377-chr8:124223544..124226331,3	MCF-7	breast:
14	chr8:124168117..124171297-chr8:124171831..124175255,6	K562	blood:
15	chr8:124169718..124172517-chr8:124190502..124192468,2	MCF-7	breast:
16	chr8:123791785..123795272-chr8:124167188..124172743,5	MCF-7	breast:
17	chr8:124167982..124170963-chr8:124285377..124287525,2	MCF-7	breast:
18	chr8:124165080..124167833-chr8:124169461..124172051,4	K562	blood:
19	chr8:124168721..124173901-chr8:124230598..124235089,6	MCF-7	breast:
20	chr8:124169796..124172486-chr8:124265107..124268007,2	K562	blood:
21	chr8:124167743..124172035-chr8:124177154..124180052,5	MCF-7	breast:
22	chr8:124168965..124171699-chr8:124285883..124287388,2	K562	blood:
23	chr8:124169638..124172038-chr8:124212201..124215441,3	MCF-7	breast:
24	chr8:124167900..124173832-chr8:124175566..124180994,14	K562	blood:
25	chr8:124083388..124086760-chr8:124168101..124170880,3	K562	blood:

No data

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

Extended variants
information (count: 26 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10481150	0.94[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs10808525	0.82[CEU][hapmap];0.81[GIH][hapmap];0.82[MEX][hapmap]
rs12546649	0.86[CEU][hapmap];0.86[MEX][hapmap]
rs12675780	0.86[CEU][hapmap]
rs1670188	0.82[CEU][hapmap];0.81[JPT][hapmap];0.94[TSI][hapmap];0.82[YRI][hapmap];0.83[EUR][1000 genomes]
rs1670189	0.81[JPT][hapmap]
rs1670190	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]
rs16898012	0.91[CEU][hapmap];0.86[GIH][hapmap];0.85[TSI][hapmap]
rs1713734	0.97[ASN][1000 genomes]
rs1713735	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1814912	0.85[ASN][1000 genomes]
rs2385165	0.91[CEU][hapmap];0.81[GIH][hapmap];0.90[MEX][hapmap];0.82[TSI][hapmap]
rs2385166	0.91[CEU][hapmap];0.81[EUR][1000 genomes]
rs6470144	0.83[CHB][hapmap];0.83[CHD][hapmap]
rs7000107	0.91[CEU][hapmap];0.83[CHB][hapmap];0.83[CHD][hapmap];0.81[MEX][hapmap];0.82[TSI][hapmap]
rs7002086	0.91[CEU][hapmap];0.83[CHB][hapmap];0.86[CHD][hapmap];0.86[GIH][hapmap];0.85[TSI][hapmap];0.81[EUR][1000 genomes]
rs7008474	0.86[ASW][hapmap];0.91[CEU][hapmap];0.94[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.98[MKK][hapmap];0.94[TSI][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7827419	0.83[CHB][hapmap];0.83[CHD][hapmap]
rs7828295	0.91[CEU][hapmap];0.83[CHB][hapmap];0.83[CHD][hapmap];0.84[GIH][hapmap];0.82[MEX][hapmap];0.82[TSI][hapmap]
rs7834180	0.91[CEU][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
rs1713736	WDR67	cis	parietal	SCAN
rs1713736	C8orf76	cis	parietal	SCAN

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124168600-124171000	Active TSS	Rectal Mucosa Donor 29	rectum
2	chr8:124168600-124171400	Active TSS	H9 Cell Line	embryonic stem cell
3	chr8:124168600-124171800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr8:124168800-124171000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
5	chr8:124168800-124171000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr8:124168800-124171000	Active TSS	Liver	Liver
7	chr8:124168800-124171000	Active TSS	Fetal Lung	lung
8	chr8:124168800-124171000	Active TSS	Ovary	ovary
9	chr8:124168800-124171000	Active TSS	Psoas Muscle	Psoas
10	chr8:124168800-124171000	Active TSS	Rectal Smooth Muscle	rectum
11	chr8:124168800-124171000	Active TSS	Stomach Mucosa	stomach
12	chr8:124168800-124171200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr8:124168800-124171400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr8:124168800-124171400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr8:124168800-124171400	Active TSS	Fetal Kidney	kidney
16	chr8:124168800-124171600	Active TSS	Brain Angular Gyrus	brain
17	chr8:124168800-124171600	Active TSS	Brain Cingulate Gyrus	brain
18	chr8:124168800-124171800	Active TSS	Duodenum Smooth Muscle	Duodenum
19	chr8:124168800-124172200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
20	chr8:124169000-124171000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr8:124169000-124171000	Active TSS	Small Intestine	intestine
22	chr8:124169000-124171000	Active TSS	HSMM	muscle
23	chr8:124169000-124171200	Active TSS	Aorta	Aorta
24	chr8:124169000-124171200	Active TSS	Brain Germinal Matrix	brain
25	chr8:124169000-124171200	Active TSS	Colon Smooth Muscle	Colon
26	chr8:124169000-124171400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr8:124169000-124171600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr8:124169000-124171600	Active TSS	Brain Anterior Caudate	brain
29	chr8:124169000-124171600	Active TSS	Pancreatic Islets	Pancreatic Islet
30	chr8:124169200-124171000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr8:124169200-124171000	Active TSS	Duodenum Mucosa	Duodenum
32	chr8:124169200-124171000	Active TSS	Gastric	stomach
33	chr8:124169200-124171200	Active TSS	Lung	lung
34	chr8:124169200-124171600	Active TSS	Fetal Brain Female	brain
35	chr8:124169400-124171000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr8:124169400-124171000	Active TSS	Primary T regulatory cells fromperipheralblood	blood
37	chr8:124169400-124171000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr8:124169400-124171000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr8:124169400-124171000	Active TSS	Esophagus	oesophagus
40	chr8:124169400-124171000	Active TSS	Left Ventricle	heart
41	chr8:124169400-124171000	Active TSS	Pancreas	Pancrea
42	chr8:124169400-124171000	Active TSS	Right Ventricle	heart
43	chr8:124169400-124171000	Active TSS	Spleen	Spleen
44	chr8:124169400-124171000	Active TSS	K562	blood
45	chr8:124169400-124171000	Active TSS	NH-A	brain
46	chr8:124169400-124171000	Active TSS	NHEK	skin
47	chr8:124169400-124171200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr8:124169400-124171200	Active TSS	Fetal Heart	heart
49	chr8:124169400-124171200	Active TSS	A549	lung
50	chr8:124169400-124171400	Active TSS	HSMMtube	muscle

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