Variant report

Variant	rs12144692
Chromosome Location	chr1:176023996-176023997
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:176013463..176015137-chr1:176022558..176024430,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10494497	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12119366	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12121832	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12123116	0.85[AMR][1000 genomes]
rs12125119	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12125192	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12125328	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12127204	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12127719	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12128099	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12128327	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12129466	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12129873	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12130538	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12132072	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12133268	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12133310	0.81[EUR][1000 genomes]
rs12133701	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12134392	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12134984	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12135045	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12137136	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12139160	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12140631	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12141054	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12142010	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12142461	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12143425	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12144612	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12144806	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12145452	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12145703	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12145778	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12146072	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1330863	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs16849475	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs28770189	0.85[AMR][1000 genomes]
rs4400573	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs56230548	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7349083	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv872561	chr1:175949646-176092167	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	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
4	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

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:175976800-176046000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr1:175978200-176050600	Weak transcription	Aorta	Aorta
3	chr1:175978400-176069000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr1:175979600-176045400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr1:175980200-176028000	Weak transcription	K562	blood
6	chr1:175989800-176036400	Weak transcription	Pancreas	Pancrea
7	chr1:175994200-176065200	Weak transcription	Psoas Muscle	Psoas
8	chr1:176004000-176026400	Weak transcription	Small Intestine	intestine
9	chr1:176004000-176036400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr1:176004200-176039800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr1:176006000-176045200	Weak transcription	GM12878-XiMat	blood
12	chr1:176006200-176049000	Weak transcription	HSMM	muscle
13	chr1:176007800-176066400	Weak transcription	Fetal Brain Male	brain
14	chr1:176010200-176048000	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr1:176010400-176066000	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr1:176012200-176024200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr1:176012200-176028200	Weak transcription	Fetal Intestine Small	intestine
18	chr1:176012200-176044800	Weak transcription	Fetal Stomach	stomach
19	chr1:176012200-176045200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr1:176012200-176045200	Weak transcription	Esophagus	oesophagus
21	chr1:176012200-176045200	Weak transcription	Fetal Lung	lung
22	chr1:176012400-176024000	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr1:176012400-176029200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr1:176012400-176036400	Weak transcription	Fetal Muscle Leg	muscle
25	chr1:176012400-176036400	Weak transcription	Gastric	stomach
26	chr1:176012400-176036400	Weak transcription	Left Ventricle	heart
27	chr1:176012400-176036400	Weak transcription	Spleen	Spleen
28	chr1:176012400-176045400	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr1:176012400-176045800	Weak transcription	Brain Hippocampus Middle	brain
30	chr1:176012400-176048200	Weak transcription	Ovary	ovary
31	chr1:176012400-176048200	Weak transcription	Thymus	Thymus
32	chr1:176012400-176062800	Weak transcription	Lung	lung
33	chr1:176012400-176065800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr1:176012800-176027800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr1:176012800-176030400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr1:176012800-176036800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr1:176012800-176038000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr1:176012800-176040000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr1:176012800-176042600	Weak transcription	Liver	Liver
40	chr1:176012800-176047000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr1:176013000-176028000	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr1:176013000-176040000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr1:176013000-176045000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr1:176013400-176040000	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr1:176013600-176024000	Weak transcription	Primary T cells from cord blood	blood
46	chr1:176013600-176037600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr1:176013600-176040000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr1:176014000-176029600	Weak transcription	Primary hematopoietic stem cells	blood
49	chr1:176014200-176026200	Weak transcription	Fetal Intestine Large	intestine
50	chr1:176014400-176039800	Weak transcription	Primary B cells from peripheral blood	blood

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