Variant report

Variant	rs16903646
Chromosome Location	chr8:129858318-129858319
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	chr8:129858313..129861214-chr8:130574284..130576982,2	K562	blood:

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

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

rs_ID	r²[population]
rs10088352	0.92[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs10094461	0.96[ASN][1000 genomes]
rs10100990	1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs10106147	0.84[ASN][1000 genomes]
rs10111925	0.84[ASN][1000 genomes]
rs10112267	0.84[ASN][1000 genomes]
rs10113225	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10216442	0.96[ASN][1000 genomes]
rs10216444	0.96[ASN][1000 genomes]
rs10216909	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13275797	0.80[ASN][1000 genomes]
rs1589258	0.80[ASN][1000 genomes]
rs16903670	0.96[ASN][1000 genomes]
rs16903837	0.84[ASN][1000 genomes]
rs2165598	0.84[ASN][1000 genomes]
rs28401672	0.96[ASN][1000 genomes]
rs28495251	0.96[ASN][1000 genomes]
rs28603306	0.87[ASN][1000 genomes]
rs28664669	0.96[ASN][1000 genomes]
rs28686180	0.84[ASN][1000 genomes]
rs6996572	0.92[AMR][1000 genomes];0.84[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	nsv612212	chr8:129851646-129861039	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
2	nsv612213	chr8:129851646-129862009	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv612214	chr8:129851646-129862252	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:129843800-129863600	Weak transcription	Dnd41	blood
2	chr8:129854800-129858400	Weak transcription	Brain Germinal Matrix	brain
3	chr8:129854800-129858600	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr8:129854800-129858600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr8:129854800-129860000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr8:129854800-129860800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr8:129856400-129859400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr8:129856800-129858600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr8:129856800-129859000	Enhancers	Osteobl	bone
10	chr8:129856800-129859400	Enhancers	HSMM	muscle
11	chr8:129856800-129859600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr8:129857000-129858400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr8:129857000-129859000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr8:129857000-129859400	Enhancers	NHDF-Ad	bronchial
15	chr8:129857000-129859600	Enhancers	Muscle Satellite Cultured Cells	--
16	chr8:129857200-129858600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr8:129857200-129858600	Enhancers	HSMMtube	muscle
18	chr8:129857400-129858800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr8:129857400-129863400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr8:129857600-129858400	Enhancers	HMEC	breast
21	chr8:129857800-129858400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr8:129858000-129862200	Weak transcription	NHEK	skin
23	chr8:129858200-129862200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr8:129858200-129862400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr8:129858200-129862400	Weak transcription	NHLF	lung

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