Variant report

Variant	rs7832611
Chromosome Location	chr8:67429422-67429423
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:67428848..67431240-chr8:67434976..67437529,2	K562	blood:
2	chr2:163798580..163801133-chr8:67428520..67431198,2	MCF-7	breast:
3	chr8:67424749..67427225-chr8:67428836..67431636,2	K562	blood:
4	chr8:67428847..67430919-chr8:67577897..67580130,2	MCF-7	breast:
5	chr8:67422601..67431884-chr8:67622296..67628668,31	MCF-7	breast:

Variant related genes	Relation type
ENSG00000175073	Chromatin interaction
ENSG00000270024	Chromatin interaction
ENSG00000104205	Chromatin interaction
ENSG00000213865	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11985608	0.93[ASN][1000 genomes]
rs11995298	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.83[YRI][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12543076	0.88[CHB][hapmap];0.93[JPT][hapmap]
rs12547731	0.81[CHB][hapmap]
rs12547831	1.00[CHB][hapmap];0.93[JPT][hapmap];0.95[ASN][1000 genomes]
rs16932954	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.92[YRI][hapmap];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16932958	1.00[CEU][hapmap]
rs34346108	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34949628	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62512590	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62512592	0.92[ASN][1000 genomes]
rs62512594	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62512597	0.92[ASN][1000 genomes]
rs62512598	0.92[ASN][1000 genomes]
rs6982757	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6997318	0.93[ASN][1000 genomes]
rs6998821	0.92[ASN][1000 genomes]
rs7008801	0.94[CHB][hapmap];0.93[JPT][hapmap];0.88[YRI][hapmap];0.92[ASN][1000 genomes]
rs7011235	0.93[ASN][1000 genomes]
rs73259750	0.93[ASN][1000 genomes]
rs7823762	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7839827	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[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	esv3446467	chr8:66749863-67667068	Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	nsv516599	chr8:67423997-67432106	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67419800-67430000	Weak transcription	Psoas Muscle	Psoas
2	chr8:67423600-67433600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr8:67425000-67430000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr8:67425200-67433800	Weak transcription	Spleen	Spleen
5	chr8:67425400-67429600	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr8:67425400-67429600	Weak transcription	HUVEC	blood vessel
7	chr8:67425400-67429600	Weak transcription	NHLF	lung
8	chr8:67425400-67429800	Weak transcription	Aorta	Aorta
9	chr8:67425400-67429800	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr8:67425400-67430000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr8:67425400-67430000	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr8:67425400-67430400	Weak transcription	Stomach Smooth Muscle	stomach
13	chr8:67425400-67430800	Weak transcription	Rectal Smooth Muscle	rectum
14	chr8:67425400-67431000	Weak transcription	Right Atrium	heart
15	chr8:67425400-67431400	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr8:67425400-67433800	Weak transcription	Ovary	ovary
17	chr8:67425600-67430000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr8:67425600-67430400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr8:67425600-67433800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr8:67425800-67429600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr8:67425800-67430200	Strong transcription	Brain Cingulate Gyrus	brain
22	chr8:67425800-67433800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr8:67426000-67430000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr8:67426000-67431800	Weak transcription	Right Ventricle	heart
25	chr8:67426200-67430600	Strong transcription	Brain Anterior Caudate	brain
26	chr8:67426200-67431000	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr8:67426400-67430200	Strong transcription	Brain Inferior Temporal Lobe	brain
28	chr8:67426400-67433400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr8:67426400-67433800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr8:67426600-67431000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr8:67426600-67433200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr8:67426600-67433800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr8:67426800-67430200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr8:67427400-67433800	Weak transcription	Fetal Lung	lung
35	chr8:67427600-67430600	Strong transcription	Brain Hippocampus Middle	brain
36	chr8:67427800-67430000	Weak transcription	Fetal Heart	heart
37	chr8:67428000-67433200	Weak transcription	Pancreas	Pancrea
38	chr8:67428400-67430400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr8:67428400-67430800	Weak transcription	Left Ventricle	heart
40	chr8:67428400-67434200	Enhancers	A549	lung
41	chr8:67428600-67430800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr8:67428800-67430800	Weak transcription	Brain Substantia Nigra	brain
43	chr8:67428800-67431000	Weak transcription	Brain Angular Gyrus	brain
44	chr8:67429000-67430800	Enhancers	Muscle Satellite Cultured Cells	--
45	chr8:67429000-67430800	Enhancers	HSMM	muscle
46	chr8:67429000-67431000	Enhancers	Hela-S3	cervix
47	chr8:67429000-67431400	Enhancers	HSMMtube	muscle
48	chr8:67429000-67432600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr8:67429000-67432600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr8:67429000-67433200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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