Variant report

Variant	rs6983210
Chromosome Location	chr8:107784396-107784397
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:107780431..107782315-chr8:107783713..107785641,2	K562	blood:
2	chr8:107784254..107786667-chr8:107794076..107796318,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11988518	0.86[ASN][1000 genomes]
rs11990338	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11996457	1.00[CHB][hapmap];0.95[ASN][1000 genomes]
rs12056528	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12675956	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12676199	0.93[ASN][1000 genomes]
rs12681427	1.00[CHB][hapmap];0.89[ASN][1000 genomes]
rs12681916	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1542644	1.00[CHB][hapmap];0.89[ASN][1000 genomes]
rs16875079	0.87[ASN][1000 genomes]
rs1954790	0.89[ASN][1000 genomes]
rs2126579	1.00[CHB][hapmap]
rs2881423	1.00[CHB][hapmap];0.89[ASN][1000 genomes]
rs3101531	1.00[CHB][hapmap]
rs3101538	0.82[CHB][hapmap]
rs3102432	1.00[CHB][hapmap]
rs3102434	1.00[CHB][hapmap]
rs3132806	1.00[CHB][hapmap]
rs6469077	0.89[ASN][1000 genomes]
rs6983111	0.89[ASN][1000 genomes]
rs7817274	1.00[CHB][hapmap];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831419	chr8:107624709-107827801	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv1032991	chr8:107756661-107819035	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv611846	chr8:107778324-107819368	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:107776000-107785000	Weak transcription	HSMMtube	muscle
2	chr8:107777600-107784600	Weak transcription	HUVEC	blood vessel
3	chr8:107777800-107785000	Weak transcription	NHLF	lung
4	chr8:107778000-107784600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr8:107778000-107785000	Weak transcription	Fetal Lung	lung
6	chr8:107778200-107785000	Weak transcription	Brain Hippocampus Middle	brain
7	chr8:107778400-107784800	Weak transcription	Brain Cingulate Gyrus	brain
8	chr8:107779200-107785000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr8:107779800-107785000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr8:107782600-107785000	Weak transcription	Left Ventricle	heart
11	chr8:107782600-107785000	Weak transcription	Psoas Muscle	Psoas
12	chr8:107782600-107785000	Weak transcription	Right Atrium	heart
13	chr8:107782600-107785000	Weak transcription	Right Ventricle	heart
14	chr8:107783200-107785800	Enhancers	Fetal Heart	heart
15	chr8:107783200-107798400	Weak transcription	Colon Smooth Muscle	Colon
16	chr8:107783400-107784800	Enhancers	Fetal Muscle Trunk	muscle
17	chr8:107783600-107785400	Enhancers	Fetal Muscle Leg	muscle
18	chr8:107783800-107784400	Active TSS	Placenta	Placenta
19	chr8:107784000-107784400	Weak transcription	Fetal Brain Male	brain
20	chr8:107784000-107784600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr8:107784000-107785000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr8:107784000-107785000	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr8:107784000-107785000	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr8:107784200-107784600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr8:107784200-107785000	Weak transcription	Fetal Kidney	kidney
26	chr8:107784200-107785400	Flanking Active TSS	NHEK	skin

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