Variant report

Variant	rs12131992
Chromosome Location	chr1:165562179-165562180
allele	C/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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:165226625..165228087-chr1:165561750..165562805,5	K562	blood:
2	chr1:165372874..165373802-chr1:165561869..165562669,5	MCF-7	breast:
3	chr1:165361774..165362688-chr1:165561662..165562980,6	MCF-7	breast:
4	chr1:165377432..165378424-chr1:165561887..165562474,3	K562	blood:
5	chr1:165377455..165378027-chr1:165561880..165562910,7	MCF-7	breast:
6	chr1:165083624..165084216-chr1:165561962..165562804,2	K562	blood:
7	chr1:165377580..165378293-chr1:165561493..165562676,4	MCF-7	breast:
8	chr1:165372897..165374942-chr1:165561137..165563189,2	MCF-7	breast:
9	chr1:165361798..165362919-chr1:165561812..165563315,19	K562	blood:
10	chr1:165361816..165362809-chr1:165561790..165562363,2	MCF-7	breast:
11	chr1:165372861..165373913-chr1:165561845..165562894,14	MCF-7	breast:

No data

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1011469	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs12119602	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12125420	0.85[EUR][1000 genomes]
rs12128974	0.83[EUR][1000 genomes]
rs12130157	0.85[EUR][1000 genomes]
rs12142477	0.82[EUR][1000 genomes]
rs16847073	0.83[AMR][1000 genomes]
rs16847331	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16847398	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1913836	0.81[EUR][1000 genomes]
rs2152818	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs34201742	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs41267552	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs41267554	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs4147146	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55890197	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs7554080	0.83[EUR][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	nsv429902	chr1:165531342-165574342	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:165547400-165566800	Weak transcription	Psoas Muscle	Psoas
2	chr1:165561400-165562600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
3	chr1:165561800-165562200	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
4	chr1:165561800-165562400	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
5	chr1:165561800-165562400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr1:165561800-165562600	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
7	chr1:165562000-165562200	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:165562000-165562200	Flanking Bivalent TSS/Enh	Primary T helper 17 cells PMA-I stimulated	--
9	chr1:165562000-165562200	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
10	chr1:165562000-165562200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
11	chr1:165562000-165562200	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
12	chr1:165562000-165562200	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
13	chr1:165562000-165562200	Bivalent Enhancer	Thymus	Thymus
14	chr1:165562000-165562200	Bivalent Enhancer	Dnd41	blood
15	chr1:165562000-165562200	Bivalent Enhancer	NHDF-Ad	bronchial
16	chr1:165562000-165562400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
17	chr1:165562000-165562400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
18	chr1:165562000-165562400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr1:165562000-165562400	Bivalent Enhancer	Fetal Thymus	thymus
20	chr1:165562000-165562600	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
21	chr1:165562000-165562600	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr1:165562000-165562600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr1:165562000-165562600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr1:165562000-165562600	Bivalent Enhancer	Fetal Muscle Leg	muscle
25	chr1:165562000-165562800	Enhancers	H1 Cell Line	embryonic stem cell

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