Variant report

Variant	rs6994366
Chromosome Location	chr8:86374765-86374766
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:86363678..86364494-chr8:86374198..86374980,2	MCF-7	breast:
2	chr8:86373793..86376899-chr8:86998896..87001584,3	MCF-7	breast:
3	chr22:36782277..36784307-chr8:86374266..86376495,2	MCF-7	breast:
4	chr8:86372229..86378702-chr8:86846475..86858080,32	MCF-7	breast:
5	chr8:86373353..86377706-chr8:86848632..86856784,15	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253154	Chromatin interaction
ENSG00000100345	Chromatin interaction
ENSG00000147614	Chromatin interaction

Extended variants
information (count: 70 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs1021457	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1021458	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11777530	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11780942	1.00[CEU][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13265202	1.00[ASN][1000 genomes]
rs13274009	1.00[ASN][1000 genomes]
rs1389246	1.00[ASN][1000 genomes]
rs1472200	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1493301	1.00[ASW][hapmap];1.00[CEU][hapmap];0.94[GIH][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17741410	1.00[ASN][1000 genomes]
rs17814075	1.00[ASN][1000 genomes]
rs17814183	1.00[ASN][1000 genomes]
rs17814255	1.00[ASN][1000 genomes]
rs17814594	1.00[ASN][1000 genomes]
rs1979694	1.00[ASN][1000 genomes]
rs2101706	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2201258	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2466764	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2645050	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs2725292	0.84[CEU][hapmap];0.84[GIH][hapmap]
rs2725295	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs2725296	0.84[CEU][hapmap]
rs359523	1.00[ASN][1000 genomes]
rs359526	1.00[ASN][1000 genomes]
rs359530	1.00[ASN][1000 genomes]
rs359536	1.00[ASN][1000 genomes]
rs36054079	1.00[ASN][1000 genomes]
rs370167	1.00[ASN][1000 genomes]
rs384656	1.00[ASN][1000 genomes]
rs385064	1.00[ASN][1000 genomes]
rs393828	1.00[ASN][1000 genomes]
rs395964	1.00[ASN][1000 genomes]
rs404123	1.00[ASN][1000 genomes]
rs406858	1.00[ASN][1000 genomes]
rs407320	1.00[ASN][1000 genomes]
rs411276	1.00[ASN][1000 genomes]
rs413449	1.00[ASN][1000 genomes]
rs414354	1.00[ASN][1000 genomes]
rs414922	1.00[ASN][1000 genomes]
rs415199	1.00[ASN][1000 genomes]
rs422914	1.00[ASN][1000 genomes]
rs427285	1.00[ASN][1000 genomes]
rs435449	0.88[YRI][hapmap];1.00[ASN][1000 genomes]
rs438730	1.00[ASN][1000 genomes]
rs443177	1.00[ASN][1000 genomes]
rs447131	1.00[ASN][1000 genomes]
rs4740052	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56698727	1.00[ASN][1000 genomes]
rs62512497	1.00[ASN][1000 genomes]
rs62512498	1.00[ASN][1000 genomes]
rs62527221	1.00[ASN][1000 genomes]
rs62527224	1.00[ASN][1000 genomes]
rs650498	1.00[ASN][1000 genomes]
rs6605618	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6605621	1.00[ASN][1000 genomes]
rs663323	1.00[ASN][1000 genomes]
rs6984702	1.00[CEU][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6990339	1.00[CEU][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6999266	1.00[ASN][1000 genomes]
rs7817747	1.00[ASN][1000 genomes]
rs7823943	1.00[ASN][1000 genomes]
rs7844166	1.00[ASN][1000 genomes]
rs981495	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018483	chr8:86142258-86547831	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv1022463	chr8:86257031-86547831	Enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	esv1804888	chr8:86263098-86986703	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv831377	chr8:86263107-86444141	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv1028148	chr8:86310570-86553130	Flanking Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
6	esv2761206	chr8:86310582-86468868	Enhancers Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	esv3361413	chr8:86374200-86377398	Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6994366	C8orf59	cis	parietal	SCAN

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:86354400-86375400	Weak transcription	Psoas Muscle	Psoas
2	chr8:86358400-86375600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr8:86366600-86375000	Weak transcription	HMEC	breast
4	chr8:86366600-86375200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr8:86366800-86375200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr8:86366800-86375200	Weak transcription	NHEK	skin
7	chr8:86367600-86375600	Weak transcription	Gastric	stomach
8	chr8:86368400-86375400	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr8:86368600-86375600	Weak transcription	Esophagus	oesophagus
10	chr8:86369200-86375400	Enhancers	Primary B cells from cord blood	blood
11	chr8:86370400-86375400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr8:86371800-86375200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr8:86371800-86375200	Weak transcription	Colon Smooth Muscle	Colon
14	chr8:86372000-86375400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr8:86372200-86375200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr8:86372200-86375200	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr8:86372200-86375400	Weak transcription	Primary T cells from cord blood	blood
18	chr8:86372200-86375400	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr8:86372400-86374800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr8:86372400-86375200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr8:86373400-86374800	Weak transcription	Primary B cells from peripheral blood	blood
22	chr8:86373600-86374800	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr8:86373800-86375200	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr8:86373800-86375200	Enhancers	Brain Angular Gyrus	brain
25	chr8:86373800-86375200	Enhancers	Brain Anterior Caudate	brain
26	chr8:86373800-86375200	Enhancers	Brain Hippocampus Middle	brain
27	chr8:86373800-86375400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr8:86373800-86375400	Enhancers	Fetal Lung	lung
29	chr8:86374000-86375000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
30	chr8:86374000-86375000	Enhancers	H1 Cell Line	embryonic stem cell
31	chr8:86374000-86375200	Enhancers	H9 Cell Line	embryonic stem cell
32	chr8:86374000-86375200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr8:86374000-86375200	Enhancers	Primary neutrophils fromperipheralblood	blood
34	chr8:86374000-86375200	Enhancers	Brain Substantia Nigra	brain
35	chr8:86374000-86375200	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr8:86374000-86375400	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr8:86374000-86375400	Enhancers	Adipose Nuclei	Adipose
38	chr8:86374000-86375400	Enhancers	Brain Cingulate Gyrus	brain
39	chr8:86374000-86375600	Enhancers	Stomach Mucosa	stomach
40	chr8:86374200-86374800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr8:86374200-86375400	Weak transcription	Colonic Mucosa	Colon
42	chr8:86374400-86375200	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
43	chr8:86374400-86375200	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr8:86374400-86375200	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr8:86374400-86375400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr8:86374400-86375600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
47	chr8:86374600-86374800	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
48	chr8:86374600-86374800	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
49	chr8:86374600-86375200	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
50	chr8:86374600-86375400	Enhancers	Primary hematopoietic stem cells	blood

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