Variant report

Variant	rs12692331
Chromosome Location	chr2:7087870-7087871
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:7079492..7082070-chr2:7087542..7089279,2	K562	blood:
2	chr2:7077733..7080992-chr2:7086392..7089961,3	K562	blood:
3	chr2:7082796..7085446-chr2:7087742..7089265,2	K562	blood:
4	chr16:74751556..74754307-chr2:7086271..7088769,2	MCF-7	breast:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10186855	0.84[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs10199111	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12477646	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12692330	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12990806	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs716896	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7562120	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][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	nsv833326	chr2:6985027-7142564	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:7069200-7088200	Weak transcription	Right Ventricle	heart
2	chr2:7075200-7095600	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr2:7077800-7091200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr2:7078200-7089400	Weak transcription	Fetal Brain Male	brain
5	chr2:7078200-7110800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr2:7079000-7113400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr2:7080400-7094800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr2:7081200-7089000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:7081400-7089600	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr2:7081400-7112200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr2:7081600-7094600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr2:7082600-7088000	Weak transcription	Fetal Heart	heart
13	chr2:7082600-7091800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr2:7082600-7100800	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr2:7082800-7090800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr2:7083800-7129600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr2:7084000-7088000	Weak transcription	K562	blood
18	chr2:7084200-7089200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr2:7084200-7097200	Weak transcription	Fetal Lung	lung
20	chr2:7084200-7122200	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr2:7084400-7100400	Weak transcription	Stomach Smooth Muscle	stomach
22	chr2:7084400-7100600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr2:7084400-7109600	Weak transcription	Fetal Thymus	thymus
24	chr2:7084400-7110800	Weak transcription	Esophagus	oesophagus
25	chr2:7084600-7092000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr2:7084600-7105200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr2:7084600-7112800	Weak transcription	Thymus	Thymus
28	chr2:7084800-7088000	Weak transcription	Fetal Stomach	stomach
29	chr2:7084800-7095800	Weak transcription	Fetal Brain Female	brain
30	chr2:7085000-7088000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr2:7085000-7095600	Weak transcription	Ovary	ovary
32	chr2:7085000-7120200	Weak transcription	Fetal Intestine Small	intestine
33	chr2:7085200-7088000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr2:7085400-7110400	Weak transcription	Brain Germinal Matrix	brain
35	chr2:7085600-7099600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr2:7085800-7088400	Weak transcription	Fetal Kidney	kidney
37	chr2:7085800-7089600	Weak transcription	Monocytes-CD14+_RO01746	blood
38	chr2:7085800-7096000	Weak transcription	Primary hematopoietic stem cells	blood
39	chr2:7086000-7088800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr2:7086000-7095200	Weak transcription	Colon Smooth Muscle	Colon
41	chr2:7086200-7088000	Weak transcription	Psoas Muscle	Psoas
42	chr2:7086200-7088000	Weak transcription	Right Atrium	heart
43	chr2:7086200-7088000	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr2:7086200-7088800	Enhancers	GM12878-XiMat	blood
45	chr2:7086200-7089000	Weak transcription	Duodenum Mucosa	Duodenum
46	chr2:7086200-7090600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr2:7086200-7095400	Weak transcription	Primary T cells fromperipheralblood	blood
48	chr2:7086200-7095600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr2:7086200-7095600	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr2:7086200-7098400	Weak transcription	Fetal Muscle Trunk	muscle

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