Variant report

Variant	rs16887916
Chromosome Location	chr6:56311512-56311513
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	chr6:56305616..56308132-chr6:56311129..56313082,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10484787	0.85[GIH][hapmap];1.00[MEX][hapmap]
rs1323319	0.85[GIH][hapmap];1.00[MEX][hapmap]
rs2397225	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6903211	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.85[TSI][hapmap];0.98[EUR][1000 genomes]
rs6917087	0.94[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6941846	0.82[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];0.90[YRI][hapmap];0.80[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs73465822	0.80[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs9475698	0.94[ASW][hapmap];0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs9475702	1.00[JPT][hapmap]

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	nsv491933	chr6:56177722-57171010	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv830666	chr6:56243743-56419599	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:56304200-56314800	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr6:56305600-56313000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr6:56305600-56315800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr6:56305600-56318600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr6:56305600-56319600	Weak transcription	HMEC	breast
6	chr6:56306600-56319000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr6:56307400-56313000	Weak transcription	Ovary	ovary
8	chr6:56308600-56311600	Enhancers	Fetal Muscle Leg	muscle
9	chr6:56308800-56373800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr6:56309000-56321000	Weak transcription	Fetal Muscle Trunk	muscle
11	chr6:56309400-56322600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr6:56309600-56311600	Enhancers	Stomach Smooth Muscle	stomach
13	chr6:56309600-56311800	Enhancers	Rectal Smooth Muscle	rectum
14	chr6:56309800-56315000	Weak transcription	HSMM	muscle
15	chr6:56310000-56315000	Weak transcription	Aorta	Aorta
16	chr6:56310200-56313400	Weak transcription	Fetal Heart	heart
17	chr6:56310200-56313400	Weak transcription	Right Atrium	heart
18	chr6:56310400-56315400	Weak transcription	NH-A	brain
19	chr6:56310400-56321000	Weak transcription	Left Ventricle	heart
20	chr6:56310600-56311600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr6:56310800-56311800	Enhancers	Colon Smooth Muscle	Colon
22	chr6:56310800-56311800	Enhancers	Fetal Lung	lung
23	chr6:56310800-56314600	Weak transcription	HepG2	liver
24	chr6:56311000-56315600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr6:56311000-56315800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr6:56311000-56315800	Weak transcription	Psoas Muscle	Psoas
27	chr6:56311000-56316200	Weak transcription	Osteobl	bone
28	chr6:56311200-56311600	Enhancers	Duodenum Smooth Muscle	Duodenum
29	chr6:56311200-56311600	Enhancers	Fetal Stomach	stomach
30	chr6:56311400-56311600	Enhancers	HSMMtube	muscle
31	chr6:56311400-56315000	Weak transcription	NHDF-Ad	bronchial
32	chr6:56311400-56315400	Weak transcription	Right Ventricle	heart

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