Variant report

Variant	rs7962592
Chromosome Location	chr12:122955727-122955728
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:122954760..122957928-chr12:122982612..122985529,4	MCF-7	breast:
2	chr12:122899321..122901884-chr12:122955675..122958204,2	MCF-7	breast:
3	chr12:122955203..122957997-chr12:122958446..122960057,2	K562	blood:
4	chr12:122906396..122908261-chr12:122954186..122955986,3	MCF-7	breast:
5	chr12:122884129..122886202-chr12:122953567..122956392,3	MCF-7	breast:
6	chr12:122905850..122909660-chr12:122951955..122956519,6	MCF-7	breast:
7	chr12:122882705..122889710-chr12:122952485..122957935,12	K562	blood:
8	chr12:122954892..122957803-chr12:122983968..122986054,2	K562	blood:
9	chr12:122882616..122885839-chr12:122954714..122957780,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000033030	Chromatin interaction
ENSG00000130779	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs55742122	0.86[AFR][1000 genomes]
rs56345648	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56840285	0.81[AFR][1000 genomes]
rs56882949	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58158680	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58388699	0.86[AFR][1000 genomes]
rs58862482	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59060380	1.00[AMR][1000 genomes]
rs60133756	0.95[AFR][1000 genomes]
rs61183779	0.87[AFR][1000 genomes]
rs7132364	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7135827	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7298781	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7307858	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]

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	nsv973945	chr12:122923254-122958354	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122922800-122960400	Weak transcription	Right Atrium	heart
2	chr12:122938800-122957000	Weak transcription	Thymus	Thymus
3	chr12:122941200-122957200	Weak transcription	Duodenum Mucosa	Duodenum
4	chr12:122944400-122957000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr12:122945800-122956000	Weak transcription	GM12878-XiMat	blood
6	chr12:122948600-122957000	Weak transcription	Fetal Muscle Trunk	muscle
7	chr12:122948800-122955800	Weak transcription	Fetal Intestine Small	intestine
8	chr12:122948800-122957000	Weak transcription	Fetal Intestine Large	intestine
9	chr12:122948800-122958000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr12:122948800-122958000	Weak transcription	Psoas Muscle	Psoas
11	chr12:122949000-122955800	Weak transcription	HSMM	muscle
12	chr12:122949200-122955800	Weak transcription	HepG2	liver
13	chr12:122949600-122955800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr12:122949600-122957000	Weak transcription	Lung	lung
15	chr12:122949800-122955800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr12:122949800-122955800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr12:122949800-122955800	Weak transcription	Stomach Mucosa	stomach
18	chr12:122949800-122955800	Weak transcription	Osteobl	bone
19	chr12:122949800-122957000	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr12:122949800-122957200	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr12:122949800-122957600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr12:122949800-122958000	Weak transcription	Small Intestine	intestine
23	chr12:122949800-122958200	Weak transcription	Pancreas	Pancrea
24	chr12:122950000-122956000	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr12:122951400-122957000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr12:122951400-122957600	Weak transcription	Fetal Brain Female	brain
27	chr12:122951600-122958400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr12:122951800-122955800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr12:122951800-122957000	Weak transcription	Esophagus	oesophagus
30	chr12:122951800-122957800	Weak transcription	K562	blood
31	chr12:122952000-122957200	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr12:122952400-122957200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr12:122952400-122957400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr12:122952800-122955800	Weak transcription	NHEK	skin
35	chr12:122952800-122958000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr12:122953000-122955800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr12:122953000-122955800	Weak transcription	Fetal Stomach	stomach
38	chr12:122953000-122957800	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr12:122953400-122957400	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr12:122953800-122957200	Weak transcription	Primary hematopoietic stem cells	blood
41	chr12:122953800-122958000	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr12:122954000-122957200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr12:122954000-122957400	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr12:122954200-122955800	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr12:122954200-122957600	Weak transcription	Primary B cells from peripheral blood	blood
46	chr12:122954200-122957800	Weak transcription	Primary B cells from cord blood	blood
47	chr12:122954200-122960000	Weak transcription	Fetal Brain Male	brain
48	chr12:122954400-122955800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr12:122954400-122957000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr12:122954400-122957000	Weak transcription	Left Ventricle	heart

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