Variant report

Variant	rs7590909
Chromosome Location	chr2:32142391-32142392
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:32136546..32142489-chr2:32145658..32148924,5	K562	blood:
2	chr2:32134403..32136134-chr2:32140450..32142713,2	K562	blood:
3	chr2:32142092..32144055-chr2:32147313..32149126,2	MCF-7	breast:
4	chr2:32141829..32144153-chr2:32389157..32391782,2	K562	blood:

Variant related genes	Relation type
ENSG00000152683	Chromatin interaction
ENSG00000272716	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs6706181	1.00[AMR][1000 genomes]
rs6728551	1.00[AMR][1000 genomes]
rs6742921	1.00[AMR][1000 genomes]
rs6757674	1.00[AMR][1000 genomes]
rs72860967	1.00[AMR][1000 genomes]
rs7570819	1.00[AMR][1000 genomes]
rs7582878	1.00[AMR][1000 genomes]
rs7583370	1.00[AMR][1000 genomes]
rs7596764	1.00[AMR][1000 genomes]
rs7608303	1.00[AMR][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	nsv532648	chr2:31591498-32312698	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
2	nsv873777	chr2:32019747-32197123	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv949102	chr2:32030307-33011548	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:32061600-32172800	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr2:32064600-32142400	Weak transcription	NHDF-Ad	bronchial
3	chr2:32075800-32170000	Weak transcription	Aorta	Aorta
4	chr2:32086600-32174400	Weak transcription	NHLF	lung
5	chr2:32088000-32157600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr2:32089400-32160000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr2:32099600-32193000	Weak transcription	Hela-S3	cervix
8	chr2:32100800-32147800	Weak transcription	Spleen	Spleen
9	chr2:32105400-32146600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr2:32107200-32167600	Weak transcription	Left Ventricle	heart
11	chr2:32114400-32153800	Weak transcription	Brain Cingulate Gyrus	brain
12	chr2:32116200-32173000	Weak transcription	HSMMtube	muscle
13	chr2:32116600-32143000	Weak transcription	Colonic Mucosa	Colon
14	chr2:32116800-32144800	Weak transcription	NHEK	skin
15	chr2:32116800-32148000	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr2:32116800-32166200	Weak transcription	Duodenum Mucosa	Duodenum
17	chr2:32116800-32169400	Weak transcription	Small Intestine	intestine
18	chr2:32116800-32182200	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr2:32117000-32205200	Weak transcription	NH-A	brain
20	chr2:32117400-32144800	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr2:32118000-32145000	Weak transcription	HSMM	muscle
22	chr2:32118600-32170600	Weak transcription	Gastric	stomach
23	chr2:32119200-32181400	Weak transcription	Stomach Smooth Muscle	stomach
24	chr2:32119800-32144600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr2:32119800-32144800	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr2:32119800-32146400	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr2:32122600-32146400	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr2:32124000-32144200	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr2:32124000-32146400	Weak transcription	Brain Substantia Nigra	brain
30	chr2:32124400-32146600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr2:32125200-32144800	Weak transcription	Pancreas	Pancrea
32	chr2:32126200-32142400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr2:32126200-32170400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr2:32127400-32147000	Weak transcription	Right Ventricle	heart
35	chr2:32127400-32151400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr2:32127400-32160400	Weak transcription	Thymus	Thymus
37	chr2:32127400-32190200	Weak transcription	Lung	lung
38	chr2:32127600-32144200	Weak transcription	Fetal Muscle Trunk	muscle
39	chr2:32127600-32144400	Weak transcription	Fetal Lung	lung
40	chr2:32127600-32151200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr2:32127600-32152200	Weak transcription	Fetal Brain Female	brain
42	chr2:32127600-32156000	Weak transcription	Rectal Smooth Muscle	rectum
43	chr2:32127600-32165600	Weak transcription	Dnd41	blood
44	chr2:32127800-32144400	Weak transcription	Osteobl	bone
45	chr2:32127800-32144800	Weak transcription	HMEC	breast
46	chr2:32127800-32147000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr2:32127800-32154600	Weak transcription	Primary T helper cells PMA-I stimulated	--
48	chr2:32127800-32169800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr2:32128000-32142400	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr2:32128000-32143400	Weak transcription	Primary T cells fromperipheralblood	blood

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