Variant report

Variant	rs16900627
Chromosome Location	chr8:90802995-90802996
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:90801163..90803261-chr8:90961126..90962760,2	MCF-7	breast:
2	chr8:90802147..90804411-chr8:90807957..90809553,2	MCF-7	breast:
3	chr8:90794527..90798218-chr8:90801291..90805045,3	K562	blood:
4	chr8:90801295..90805562-chr8:90810503..90814895,4	MCF-7	breast:
5	chr8:90801418..90803391-chr8:90808526..90811319,2	MCF-7	breast:
6	chr8:90769927..90772219-chr8:90802189..90804618,2	MCF-7	breast:
7	chr8:90801184..90803292-chr8:90992105..90995010,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000104312	Chromatin interaction
ENSG00000251136	Chromatin interaction
ENSG00000104320	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10087807	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs10097279	1.00[ASW][hapmap];0.93[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];0.85[JPT][hapmap];0.98[LWK][hapmap];1.00[MKK][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs10100184	0.94[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];0.96[MKK][hapmap];0.85[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs10102596	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs10113478	0.83[JPT][hapmap]
rs10504881	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.85[MEX][hapmap];1.00[MKK][hapmap];0.85[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs16900017	1.00[CEU][hapmap]
rs16900429	0.85[TSI][hapmap]
rs16900650	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16900684	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1978129	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2158131	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs218906	0.83[JPT][hapmap]
rs218924	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.91[ASN][1000 genomes]
rs218926	0.91[ASN][1000 genomes]
rs218927	0.91[ASN][1000 genomes]
rs218937	0.91[ASN][1000 genomes]
rs218939	0.91[ASN][1000 genomes]
rs28565967	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs28657795	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs56017098	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs60569724	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6981112	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs73291423	0.91[ASN][1000 genomes]
rs73293110	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs73694475	0.91[ASN][1000 genomes]
rs7844627	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs9297722	0.92[CHD][hapmap];0.83[JPT][hapmap]
rs9297727	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[ASN][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	nsv933502	chr8:90702392-91049100	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
2	nsv934114	chr8:90720182-90999106	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
3	nsv891181	chr8:90737258-90819998	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
4	nsv891182	chr8:90785685-90888786	Flanking Active TSS Genic enhancers Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:90771600-90803800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr8:90771800-90805000	Weak transcription	Esophagus	oesophagus
3	chr8:90772200-90805200	Weak transcription	Fetal Brain Male	brain
4	chr8:90772200-90807200	Weak transcription	Pancreas	Pancrea
5	chr8:90772200-90809400	Weak transcription	Small Intestine	intestine
6	chr8:90773000-90806800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr8:90773000-90812400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr8:90774200-90803600	Weak transcription	Fetal Heart	heart
9	chr8:90775800-90807200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr8:90781400-90806600	Weak transcription	Right Ventricle	heart
11	chr8:90781800-90805600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr8:90783600-90803600	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr8:90783800-90829000	Weak transcription	Aorta	Aorta
14	chr8:90785600-90813800	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr8:90785800-90807200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr8:90785800-90810800	Weak transcription	Fetal Brain Female	brain
17	chr8:90786000-90813000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr8:90786400-90809800	Weak transcription	HepG2	liver
19	chr8:90792000-90804200	Strong transcription	HUES64 Cell Line	embryonic stem cell
20	chr8:90792200-90805800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr8:90793600-90806400	Strong transcription	Liver	Liver
22	chr8:90795000-90803400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr8:90795000-90805400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr8:90795000-90808400	Weak transcription	NHEK	skin
25	chr8:90795200-90804600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr8:90795200-90805400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr8:90795600-90806400	Strong transcription	Adipose Nuclei	Adipose
28	chr8:90796200-90807200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr8:90796600-90803000	Strong transcription	Placenta	Placenta
30	chr8:90796600-90806400	Strong transcription	Duodenum Smooth Muscle	Duodenum
31	chr8:90797200-90808400	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr8:90797400-90804000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr8:90797600-90803800	Strong transcription	HUES48 Cell Line	embryonic stem cell
34	chr8:90798000-90806200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
35	chr8:90798000-90806200	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr8:90798000-90806400	Strong transcription	Primary monocytes fromperipheralblood	blood
37	chr8:90798000-90806600	Strong transcription	Monocytes-CD14+_RO01746	blood
38	chr8:90798400-90803000	Strong transcription	Brain Cingulate Gyrus	brain
39	chr8:90798400-90805600	Strong transcription	Primary B cells from peripheral blood	blood
40	chr8:90798600-90804000	Weak transcription	Brain Germinal Matrix	brain
41	chr8:90798800-90803600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr8:90798800-90804200	Strong transcription	Primary neutrophils fromperipheralblood	blood
43	chr8:90798800-90805400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
44	chr8:90799000-90803000	Strong transcription	H1 Cell Line	embryonic stem cell
45	chr8:90799400-90810200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr8:90799400-90814000	Weak transcription	Gastric	stomach
47	chr8:90799600-90803600	Strong transcription	Rectal Mucosa Donor 29	rectum
48	chr8:90799800-90804000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr8:90799800-90806600	Weak transcription	Ovary	ovary
50	chr8:90799800-90811800	Weak transcription	Fetal Kidney	kidney

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