Variant report

Variant	rs7191097
Chromosome Location	chr16:30495496-30495497
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr16:30495477-30495511	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:30494764..30496876-chr16:30536882..30538682,2	MCF-7	breast:
2	chr16:30493868..30496718-chr16:30515344..30518090,2	K562	blood:

Variant related genes	Relation type
RNU7-61P	TF binding region
ENSG00000260487	TF binding region
ITGAL	TF binding region
ENSG00000169957	Chromatin interaction
ENSG00000005844	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11859342	1.00[EUR][1000 genomes]
rs11862680	1.00[EUR][1000 genomes]
rs34007971	1.00[EUR][1000 genomes]
rs34326943	1.00[EUR][1000 genomes]
rs34674102	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34874849	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35512295	1.00[EUR][1000 genomes]
rs35977794	1.00[EUR][1000 genomes]
rs58223373	1.00[EUR][1000 genomes]
rs58223875	1.00[EUR][1000 genomes]
rs60048183	1.00[EUR][1000 genomes]
rs60584290	1.00[EUR][1000 genomes]
rs7196067	1.00[EUR][1000 genomes]
rs74015016	1.00[EUR][1000 genomes]
rs74015017	1.00[EUR][1000 genomes]
rs74015019	1.00[EUR][1000 genomes]
rs8044106	1.00[EUR][1000 genomes]
rs8051182	1.00[EUR][1000 genomes]
rs8061986	1.00[EUR][1000 genomes]
rs8062907	1.00[EUR][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	nsv532531	chr16:30370550-30581820	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	113 gene(s)	inside rSNPs	diseases
2	nsv1062456	chr16:30442166-31253997	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
3	nsv542898	chr16:30442166-31253997	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:30485200-30499600	Weak transcription	Liver	Liver
2	chr16:30485600-30500200	Weak transcription	Dnd41	blood
3	chr16:30485800-30500200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr16:30485800-30521400	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr16:30486000-30510600	Weak transcription	Rectal Smooth Muscle	rectum
6	chr16:30486800-30495600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr16:30486800-30533400	Weak transcription	Esophagus	oesophagus
8	chr16:30487000-30497000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
9	chr16:30487000-30497000	Weak transcription	Fetal Intestine Small	intestine
10	chr16:30487000-30534800	Strong transcription	Primary neutrophils fromperipheralblood	blood
11	chr16:30487400-30502000	Genic enhancers	Primary T cells fromperipheralblood	blood
12	chr16:30487600-30500000	Weak transcription	Placenta	Placenta
13	chr16:30488200-30495800	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr16:30488600-30496200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr16:30489000-30505400	Weak transcription	Duodenum Mucosa	Duodenum
16	chr16:30489000-30534000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr16:30489800-30496000	Strong transcription	Primary T cells from cord blood	blood
18	chr16:30490000-30518800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr16:30490200-30497600	Strong transcription	Primary B cells from cord blood	blood
20	chr16:30490400-30495800	Strong transcription	Spleen	Spleen
21	chr16:30490600-30495800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr16:30490600-30521000	Weak transcription	Colonic Mucosa	Colon
23	chr16:30490800-30534600	Strong transcription	Thymus	Thymus
24	chr16:30491000-30513600	Strong transcription	Primary B cells from peripheral blood	blood
25	chr16:30491000-30534000	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr16:30491600-30511200	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr16:30491600-30533800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr16:30491800-30498200	Strong transcription	GM12878-XiMat	blood
29	chr16:30492200-30497200	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr16:30492200-30534600	Strong transcription	Fetal Thymus	thymus
31	chr16:30492400-30495800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr16:30494000-30495800	Strong transcription	Primary T helper naive cells from peripheral blood	blood
33	chr16:30494400-30498400	Strong transcription	Primary T helper cells PMA-I stimulated	--
34	chr16:30495000-30497200	Strong transcription	Primary T helper cells fromperipheralblood	blood
35	chr16:30495000-30497200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr16:30495200-30495600	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr16:30495400-30495600	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
38	chr16:30495400-30500400	Weak transcription	Lung	lung
39	chr16:30495400-30503000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr16:30495400-30503000	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr16:30495400-30505200	Weak transcription	Primary hematopoietic stem cells	blood

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