Variant report

Variant	rs7191191
Chromosome Location	chr16:70542160-70542161
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	chr16:70412934..70415272-chr16:70540814..70543390,2	MCF-7	breast:
2	chr16:70540803..70547043-chr16:70555255..70559706,8	MCF-7	breast:

Variant related genes	Relation type
ENSG00000260111	Chromatin interaction
ENSG00000103051	Chromatin interaction
ENSG00000189091	Chromatin interaction

Extended variants
information (count: 84 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs13331220	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13334577	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs13339216	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13339561	1.00[AMR][1000 genomes]
rs13339593	1.00[AMR][1000 genomes]
rs13339643	1.00[AMR][1000 genomes]
rs16970226	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16970240	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16970243	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16970253	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16970259	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16970260	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17878662	1.00[AMR][1000 genomes]
rs17879275	1.00[AMR][1000 genomes]
rs17881316	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs17885165	1.00[AMR][1000 genomes]
rs17886111	1.00[AMR][1000 genomes]
rs28419202	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28438025	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28475204	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28619389	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28777081	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55667445	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55885171	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55926204	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs56189591	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57451547	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58142695	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58144908	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58885322	1.00[EUR][1000 genomes]
rs59158714	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59460917	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60757048	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61641432	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61692284	1.00[EUR][1000 genomes]
rs6499318	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7184876	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7185011	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7185462	1.00[EUR][1000 genomes]
rs7186436	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7188297	1.00[AMR][1000 genomes]
rs7188474	1.00[AMR][1000 genomes]
rs7188808	1.00[AMR][1000 genomes]
rs7193228	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7196773	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs7199312	1.00[AMR][1000 genomes]
rs7200586	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7200978	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73573163	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73573175	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73578815	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73578819	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8047593	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8049929	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8050767	0.99[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8050782	1.00[EUR][1000 genomes]
rs8051473	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8051618	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8057327	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8057732	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8058754	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8059200	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8061243	1.00[AMR][1000 genomes]
rs8061431	1.00[AMR][1000 genomes]
rs8062414	0.94[YRI][hapmap];1.00[AMR][1000 genomes]
rs8062794	1.00[AMR][1000 genomes]
rs9302615	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9921410	1.00[AMR][1000 genomes]
rs9926355	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9926435	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9928617	1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs9928808	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9929182	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9929354	1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9929882	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9932065	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9932939	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9933022	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9936085	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9937769	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9939252	0.91[AFR][1000 genomes]
rs9940353	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]

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	nsv833272	chr16:70369769-70569723	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
2	esv2830027	chr16:70473934-70558039	Genic enhancers Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70489400-70556400	Weak transcription	Stomach Mucosa	stomach
2	chr16:70512800-70556400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr16:70518000-70545800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr16:70523200-70542400	Weak transcription	Hela-S3	cervix
5	chr16:70524400-70542400	Weak transcription	Fetal Brain Male	brain
6	chr16:70528000-70553800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr16:70528800-70556400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr16:70530600-70542400	Weak transcription	HMEC	breast
9	chr16:70530600-70545800	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr16:70530800-70542200	Weak transcription	K562	blood
11	chr16:70531000-70542400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr16:70531000-70542800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr16:70531200-70542200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr16:70531400-70543600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr16:70531600-70542800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr16:70531800-70542400	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr16:70531800-70542400	Weak transcription	Rectal Smooth Muscle	rectum
18	chr16:70532000-70542200	Weak transcription	HSMMtube	muscle
19	chr16:70532000-70542200	Weak transcription	HUVEC	blood vessel
20	chr16:70532000-70542200	Weak transcription	NHDF-Ad	bronchial
21	chr16:70532000-70542400	Weak transcription	Primary B cells from cord blood	blood
22	chr16:70532000-70542400	Weak transcription	Aorta	Aorta
23	chr16:70532000-70542400	Weak transcription	Fetal Lung	lung
24	chr16:70532000-70542800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr16:70532000-70543000	Weak transcription	Colonic Mucosa	Colon
26	chr16:70532000-70543000	Weak transcription	Small Intestine	intestine
27	chr16:70532000-70545600	Weak transcription	A549	lung
28	chr16:70532600-70542200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr16:70533400-70542200	Weak transcription	Brain Substantia Nigra	brain
30	chr16:70533400-70543000	Weak transcription	Gastric	stomach
31	chr16:70533600-70542200	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr16:70534000-70542200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr16:70534600-70542400	Weak transcription	NHEK	skin
34	chr16:70535200-70542200	Weak transcription	NH-A	brain
35	chr16:70535200-70542400	Weak transcription	Brain Angular Gyrus	brain
36	chr16:70535200-70542400	Weak transcription	Brain Hippocampus Middle	brain
37	chr16:70535200-70542400	Weak transcription	Ovary	ovary
38	chr16:70535200-70542400	Weak transcription	HSMM	muscle
39	chr16:70536600-70554000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr16:70536800-70546200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr16:70536800-70554000	Strong transcription	Fetal Stomach	stomach
42	chr16:70537000-70546400	Strong transcription	Fetal Intestine Small	intestine
43	chr16:70537200-70554000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr16:70537400-70542200	Weak transcription	Left Ventricle	heart
45	chr16:70537600-70542200	Weak transcription	HepG2	liver
46	chr16:70537800-70542800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr16:70537800-70552600	Strong transcription	Primary neutrophils fromperipheralblood	blood
48	chr16:70537800-70553800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr16:70537800-70553800	Strong transcription	Liver	Liver
50	chr16:70538000-70543000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood

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