Variant report

Variant	rs8057938
Chromosome Location	chr16:69811109-69811110
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:69794502..69797651-chr16:69808679..69811582,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000198373	Chromatin interaction

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10400956	0.92[ASN][1000 genomes]
rs10517	0.86[EUR][1000 genomes]
rs11075736	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1139177	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11862697	1.00[CEU][hapmap];0.81[ASN][1000 genomes]
rs12019048	1.00[CEU][hapmap]
rs12149920	0.96[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12921017	0.86[EUR][1000 genomes]
rs1318651	1.00[CEU][hapmap];0.87[ASN][1000 genomes]
rs16959059	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs16959266	1.00[CEU][hapmap];0.81[ASN][1000 genomes]
rs16959271	0.81[ASN][1000 genomes]
rs2088747	1.00[CEU][hapmap];0.86[ASN][1000 genomes]
rs2291960	1.00[CEU][hapmap];0.87[ASN][1000 genomes]
rs2917665	0.88[EUR][1000 genomes]
rs2917667	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs2917669	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs2917673	0.90[EUR][1000 genomes]
rs2917674	0.89[EUR][1000 genomes]
rs2917675	0.82[EUR][1000 genomes]
rs2917676	0.86[EUR][1000 genomes]
rs2917681	0.88[CEU][hapmap]
rs2917682	0.88[CEU][hapmap];0.83[EUR][1000 genomes]
rs2917683	0.88[CEU][hapmap];0.81[EUR][1000 genomes]
rs2937120	0.87[ASN][1000 genomes]
rs2937123	0.87[ASN][1000 genomes]
rs2937126	1.00[CEU][hapmap];0.91[ASN][1000 genomes]
rs2937127	0.90[ASN][1000 genomes]
rs2965753	1.00[CEU][hapmap]
rs2965756	0.87[ASN][1000 genomes]
rs2965759	1.00[CEU][hapmap];0.86[ASN][1000 genomes]
rs2965760	0.86[ASN][1000 genomes]
rs2965761	0.86[ASN][1000 genomes]
rs2965762	0.88[ASN][1000 genomes]
rs2965763	0.88[ASN][1000 genomes]
rs2965764	0.88[ASN][1000 genomes]
rs3790084	0.87[CEU][hapmap]
rs3790087	1.00[CEU][hapmap]
rs3790088	1.00[CEU][hapmap];0.87[ASN][1000 genomes]
rs3826154	0.87[CEU][hapmap]
rs4247107	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4247109	1.00[CEU][hapmap];0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4442796	0.88[CEU][hapmap];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4608327	0.90[ASN][1000 genomes]
rs4619391	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4985527	1.00[CEU][hapmap];0.86[ASN][1000 genomes]
rs4985528	0.81[ASN][1000 genomes]
rs4985529	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4985531	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61090597	0.85[ASN][1000 genomes]
rs6499246	0.82[EUR][1000 genomes]
rs6499248	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6499249	0.88[CEU][hapmap];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6499250	0.94[ASN][1000 genomes]
rs6499259	1.00[CEU][hapmap];0.88[ASN][1000 genomes]
rs689452	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs689456	0.90[EUR][1000 genomes]
rs7188187	0.88[ASN][1000 genomes]
rs7204615	0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7359387	0.88[CEU][hapmap]
rs8050369	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8052459	0.81[ASN][1000 genomes]
rs8058594	0.87[ASN][1000 genomes]
rs8062076	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9888980	1.00[CEU][hapmap];0.81[ASN][1000 genomes]
rs9888981	1.00[CEU][hapmap];0.81[ASN][1000 genomes]
rs9922223	1.00[CEU][hapmap]
rs9927105	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9932486	1.00[CEU][hapmap]
rs9940008	1.00[CEU][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv906823	chr16:69711533-69959223	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats 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	54 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:69797400-69821200	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr16:69797600-69816800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr16:69797600-69853400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr16:69797800-69821200	Weak transcription	Rectal Smooth Muscle	rectum
5	chr16:69800600-69817200	Weak transcription	Fetal Stomach	stomach
6	chr16:69800600-69817600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr16:69802800-69821400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr16:69803000-69823400	Weak transcription	Right Ventricle	heart
9	chr16:69803400-69830200	Weak transcription	Fetal Heart	heart
10	chr16:69804800-69814400	Weak transcription	Lung	lung
11	chr16:69806600-69812200	Weak transcription	Fetal Thymus	thymus
12	chr16:69806800-69817600	Weak transcription	Gastric	stomach
13	chr16:69806800-69821000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr16:69806800-69821200	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr16:69806800-69830200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr16:69806800-69833000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr16:69807000-69820800	Weak transcription	Spleen	Spleen
18	chr16:69807000-69821000	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr16:69807000-69821400	Weak transcription	Colonic Mucosa	Colon
20	chr16:69807000-69821600	Weak transcription	Stomach Mucosa	stomach
21	chr16:69807000-69821800	Weak transcription	Brain Substantia Nigra	brain
22	chr16:69807000-69822200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr16:69807000-69822400	Weak transcription	Fetal Kidney	kidney
24	chr16:69807000-69830200	Weak transcription	NHDF-Ad	bronchial
25	chr16:69807000-69832000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr16:69807200-69816800	Weak transcription	Placenta	Placenta
27	chr16:69807200-69817200	Weak transcription	Left Ventricle	heart
28	chr16:69807200-69817600	Weak transcription	Esophagus	oesophagus
29	chr16:69807200-69821200	Weak transcription	Brain Angular Gyrus	brain
30	chr16:69807200-69830200	Weak transcription	Osteobl	bone
31	chr16:69807200-69832600	Weak transcription	NHLF	lung
32	chr16:69807200-69832800	Weak transcription	Pancreas	Pancrea
33	chr16:69807200-69852400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr16:69807200-69852800	Weak transcription	Hela-S3	cervix
35	chr16:69807200-69854800	Weak transcription	Psoas Muscle	Psoas
36	chr16:69807400-69816600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr16:69807400-69821400	Weak transcription	Ovary	ovary
38	chr16:69807600-69821200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr16:69807800-69818200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr16:69808000-69833200	Weak transcription	HSMM	muscle
41	chr16:69809200-69821800	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr16:69809400-69812200	Weak transcription	Fetal Intestine Large	intestine
43	chr16:69809600-69816800	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr16:69809600-69820800	Weak transcription	Brain Hippocampus Middle	brain
45	chr16:69809800-69819000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr16:69809800-69821800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr16:69810000-69821200	Weak transcription	Stomach Smooth Muscle	stomach
48	chr16:69810000-69822400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr16:69810000-69839800	Weak transcription	HUVEC	blood vessel
50	chr16:69810200-69811800	Weak transcription	Primary neutrophils fromperipheralblood	blood

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