Variant report

Variant	rs12127719
Chromosome Location	chr1:176116988-176116989
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:176109806..176112763-chr1:176116214..176119123,3	K562	blood:
2	chr1:176116758..176118552-chr1:176143991..176146342,2	MCF-7	breast:
3	chr1:176112849..176115015-chr1:176116534..176118613,2	K562	blood:

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10494497	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12116561	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12119366	0.85[AMR][1000 genomes]
rs12121832	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12124916	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12125192	0.85[AMR][1000 genomes]
rs12125328	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12127204	0.85[AMR][1000 genomes]
rs12128099	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs12128327	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12129466	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12129873	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12130538	0.85[AMR][1000 genomes]
rs12132072	0.92[AMR][1000 genomes]
rs12133268	0.85[AMR][1000 genomes]
rs12133310	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12133701	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12134392	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12134984	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12135045	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12137136	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12139160	0.85[AMR][1000 genomes]
rs12140631	0.85[AMR][1000 genomes]
rs12141054	0.85[AMR][1000 genomes]
rs12142010	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12142461	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12143425	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12144612	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12144692	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12144806	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12145452	0.85[AMR][1000 genomes]
rs12145703	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12145778	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12146072	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1330863	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs16849475	0.85[AMR][1000 genomes]
rs4400573	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56230548	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7349083	0.85[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1823794	chr1:175869554-176311778	Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv872562	chr1:175949646-176141866	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv872563	chr1:175949646-176184625	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv548246	chr1:176043797-176136273	Strong transcription Weak transcription ZNF genes & repeats Active TSS Enhancers Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv872565	chr1:176058782-176172795	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:176054400-176131600	Weak transcription	NH-A	brain
2	chr1:176055000-176141600	Weak transcription	Hela-S3	cervix
3	chr1:176065600-176154800	Weak transcription	Aorta	Aorta
4	chr1:176069000-176139200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:176069200-176123200	Weak transcription	Osteobl	bone
6	chr1:176069200-176126600	Weak transcription	HMEC	breast
7	chr1:176069200-176138800	Weak transcription	HUVEC	blood vessel
8	chr1:176069400-176121200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr1:176070400-176126400	Weak transcription	Brain Anterior Caudate	brain
10	chr1:176070400-176151400	Weak transcription	Pancreas	Pancrea
11	chr1:176071600-176117800	Weak transcription	Gastric	stomach
12	chr1:176072000-176140600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr1:176072800-176126600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr1:176076200-176126000	Weak transcription	Ovary	ovary
15	chr1:176076200-176127800	Weak transcription	Esophagus	oesophagus
16	chr1:176083000-176126000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr1:176085400-176142400	Weak transcription	Lung	lung
18	chr1:176085600-176122200	Weak transcription	Left Ventricle	heart
19	chr1:176085600-176122600	Weak transcription	Thymus	Thymus
20	chr1:176085600-176126000	Weak transcription	Fetal Stomach	stomach
21	chr1:176085600-176128600	Weak transcription	Placenta	Placenta
22	chr1:176087400-176122800	Weak transcription	NHEK	skin
23	chr1:176088600-176122800	Weak transcription	Rectal Smooth Muscle	rectum
24	chr1:176090800-176126600	Weak transcription	Fetal Brain Male	brain
25	chr1:176091600-176117000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr1:176093200-176119200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr1:176093200-176121200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr1:176094800-176126200	Weak transcription	Fetal Brain Female	brain
29	chr1:176094800-176126400	Weak transcription	Fetal Muscle Leg	muscle
30	chr1:176095600-176130200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr1:176096000-176138800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr1:176100400-176126400	Weak transcription	Stomach Smooth Muscle	stomach
33	chr1:176100800-176153200	Weak transcription	Colonic Mucosa	Colon
34	chr1:176101400-176126600	Weak transcription	Brain Substantia Nigra	brain
35	chr1:176102800-176121000	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr1:176102800-176121800	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr1:176102800-176126400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr1:176102800-176130000	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr1:176102800-176130600	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr1:176103000-176121000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr1:176103000-176125800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr1:176103200-176126600	Weak transcription	HSMMtube	muscle
43	chr1:176103400-176123400	Weak transcription	K562	blood
44	chr1:176103400-176126200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr1:176103400-176127400	Weak transcription	Fetal Heart	heart
46	chr1:176106000-176126400	Weak transcription	Colon Smooth Muscle	Colon
47	chr1:176107600-176126600	Weak transcription	Brain Hippocampus Middle	brain
48	chr1:176108000-176123200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr1:176108000-176124600	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr1:176108000-176126600	Weak transcription	H1 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links