Variant report

Variant	rs1979594
Chromosome Location	chr16:70427132-70427133
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:70426189..70427824-chr16:70487935..70489664,2	MCF-7	breast:
2	chr16:70425984..70427515-chr16:70495359..70497287,2	MCF-7	breast:
3	chr16:70425922..70428415-chr16:70432855..70435474,3	K562	blood:
4	chr16:70425120..70427352-chr16:70506388..70508836,2	K562	blood:
5	chr16:70425305..70429574-chr16:70469861..70473545,6	K562	blood:
6	chr16:70426372..70429310-chr16:70432406..70434780,2	K562	blood:

Variant related genes	Relation type
ENSG00000157350	Chromatin interaction
ENSG00000157353	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs12102388	0.87[AMR][1000 genomes]
rs13330945	0.87[AMR][1000 genomes]
rs13334712	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13337437	1.00[EUR][1000 genomes]
rs13337689	0.87[AMR][1000 genomes]
rs28613466	0.87[AMR][1000 genomes]
rs57301833	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60575688	0.87[AMR][1000 genomes]
rs60828997	1.00[EUR][1000 genomes]
rs7193598	1.00[EUR][1000 genomes]
rs7200034	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7200891	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7202133	0.87[AMR][1000 genomes]
rs8045340	1.00[AMR][1000 genomes]
rs8057766	0.87[AMR][1000 genomes]
rs891138	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9921696	0.87[AMR][1000 genomes]
rs9924352	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9925510	0.87[AMR][1000 genomes]
rs9927480	1.00[EUR][1000 genomes]
rs9931779	1.00[EUR][1000 genomes]
rs9934707	0.98[AFR][1000 genomes];1.00[EUR][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	nsv482577	chr16:70329048-70516069	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
2	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

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70415800-70427600	Weak transcription	Fetal Kidney	kidney
2	chr16:70415800-70442000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr16:70416000-70429200	Weak transcription	Colonic Mucosa	Colon
4	chr16:70416000-70429400	Weak transcription	Pancreas	Pancrea
5	chr16:70416000-70430000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr16:70416000-70432200	Weak transcription	Gastric	stomach
7	chr16:70416000-70433400	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr16:70416000-70435000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr16:70416000-70435600	Strong transcription	Fetal Stomach	stomach
10	chr16:70416000-70437600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr16:70416000-70438000	Weak transcription	Small Intestine	intestine
12	chr16:70416000-70438000	Weak transcription	HUVEC	blood vessel
13	chr16:70416200-70427600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr16:70416200-70428600	Strong transcription	Fetal Intestine Small	intestine
15	chr16:70416200-70429200	Strong transcription	Primary neutrophils fromperipheralblood	blood
16	chr16:70416200-70429200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr16:70416200-70432200	Weak transcription	Rectal Smooth Muscle	rectum
18	chr16:70416200-70437000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr16:70416200-70437000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr16:70416400-70434600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
21	chr16:70416600-70427200	Weak transcription	Fetal Brain Male	brain
22	chr16:70416600-70428800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr16:70416600-70431800	Weak transcription	Brain Angular Gyrus	brain
24	chr16:70417400-70427400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr16:70418000-70427400	Weak transcription	Primary hematopoietic stem cells	blood
26	chr16:70418200-70427600	Weak transcription	Hela-S3	cervix
27	chr16:70420400-70429400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr16:70422000-70429400	Strong transcription	K562	blood
29	chr16:70422400-70430400	Weak transcription	Brain Cingulate Gyrus	brain
30	chr16:70422400-70431800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr16:70422400-70432200	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr16:70422600-70427200	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr16:70422600-70427400	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr16:70422600-70427400	Weak transcription	Lung	lung
35	chr16:70422600-70430400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr16:70422600-70430400	Weak transcription	Ovary	ovary
37	chr16:70422600-70431800	Weak transcription	Aorta	Aorta
38	chr16:70422600-70432000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr16:70422600-70432000	Weak transcription	Primary T helper cells fromperipheralblood	blood
40	chr16:70422600-70432000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr16:70422600-70432000	Weak transcription	Brain Substantia Nigra	brain
42	chr16:70422800-70427400	Weak transcription	Primary T cells fromperipheralblood	blood
43	chr16:70422800-70427400	Weak transcription	Liver	Liver
44	chr16:70422800-70427400	Weak transcription	Duodenum Mucosa	Duodenum
45	chr16:70422800-70427600	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr16:70422800-70427600	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr16:70422800-70427800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr16:70422800-70429200	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr16:70422800-70430200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr16:70422800-70441400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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