Variant report

Variant	rs7816350
Chromosome Location	chr8:126289605-126289606
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:126287704..126290628-chr8:126303543..126305382,2	MCF-7	breast:
2	chr8:126285610..126287271-chr8:126288882..126290405,2	MCF-7	breast:
3	chr8:126289014..126291245-chr8:126440114..126442015,2	MCF-7	breast:
4	chr8:126288880..126291551-chr8:126340107..126343091,2	K562	blood:
5	chr8:126287701..126290542-chr8:126297201..126298945,2	MCF-7	breast:
6	chr8:126283879..126287098-chr8:126289140..126291457,3	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs16900516	0.80[AMR][1000 genomes]
rs16900538	0.80[AMR][1000 genomes]
rs3812467	1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.96[MKK][hapmap];0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs55927076	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6651233	0.82[CEU][hapmap]
rs7003102	0.82[CEU][hapmap];0.92[GIH][hapmap];0.86[TSI][hapmap]
rs7007866	0.92[GIH][hapmap];0.82[TSI][hapmap];0.80[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv949614	chr8:126063646-126376699	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	esv3419040	chr8:126271495-126339914	Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv891436	chr8:126283766-126345076	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126264800-126310600	Weak transcription	Aorta	Aorta
2	chr8:126265600-126296600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr8:126280000-126289800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr8:126283400-126292600	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr8:126284200-126290400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr8:126284200-126290400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr8:126285600-126292400	Weak transcription	Fetal Brain Male	brain
8	chr8:126286200-126290200	Weak transcription	Liver	Liver
9	chr8:126286200-126290400	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr8:126286200-126292200	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr8:126286200-126294800	Weak transcription	Colonic Mucosa	Colon
12	chr8:126286200-126301600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr8:126286400-126290000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr8:126286400-126290400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr8:126286400-126290400	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr8:126286400-126290400	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr8:126286400-126290400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr8:126286400-126290400	Weak transcription	Adipose Nuclei	Adipose
19	chr8:126286400-126290400	Weak transcription	Esophagus	oesophagus
20	chr8:126286400-126290400	Weak transcription	Gastric	stomach
21	chr8:126286400-126290400	Weak transcription	Psoas Muscle	Psoas
22	chr8:126286400-126290400	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr8:126286400-126290400	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr8:126286400-126290400	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr8:126286400-126290600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr8:126286400-126290600	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr8:126286400-126290600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr8:126286400-126290600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr8:126286400-126290600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr8:126286400-126290600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr8:126286400-126290600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr8:126286400-126290600	Weak transcription	Colon Smooth Muscle	Colon
33	chr8:126286400-126290600	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr8:126286400-126290600	Weak transcription	Fetal Heart	heart
35	chr8:126286400-126290600	Weak transcription	NHLF	lung
36	chr8:126286400-126290800	Weak transcription	Brain Hippocampus Middle	brain
37	chr8:126286400-126291200	Weak transcription	Rectal Smooth Muscle	rectum
38	chr8:126286400-126291200	Weak transcription	NHDF-Ad	bronchial
39	chr8:126286400-126292000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr8:126286400-126292000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr8:126286400-126292000	Weak transcription	Fetal Kidney	kidney
42	chr8:126286400-126292000	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr8:126286400-126292000	Weak transcription	HSMM	muscle
44	chr8:126286400-126292200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr8:126286400-126296000	Weak transcription	Left Ventricle	heart
46	chr8:126286400-126296600	Weak transcription	Brain Cingulate Gyrus	brain
47	chr8:126286400-126298000	Weak transcription	Pancreas	Pancrea
48	chr8:126286400-126301000	Weak transcription	Fetal Muscle Leg	muscle
49	chr8:126286400-126301200	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr8:126286600-126290200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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