Variant report

Variant	rs12128327
Chromosome Location	chr1:176048203-176048204
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:176042309..176045520-chr1:176046203..176049197,3	K562	blood:

Extended variants
information (count: 46 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10494497	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12119366	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12121832	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12123116	0.85[AMR][1000 genomes]
rs12125119	0.85[AMR][1000 genomes]
rs12125192	0.88[CEU][hapmap];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12125328	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12127204	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12127719	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12128099	1.00[CEU][hapmap];0.86[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs12129466	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12129873	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12130538	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12132072	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12133268	0.92[AMR][1000 genomes]
rs12133310	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs12133701	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12134392	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12134984	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12135045	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12137136	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12139160	0.90[CEU][hapmap];0.92[AMR][1000 genomes]
rs12140631	0.92[AMR][1000 genomes]
rs12141054	0.92[AMR][1000 genomes]
rs12142010	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12142461	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12143425	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12144612	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12144692	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12144806	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12145452	0.86[CEU][hapmap];0.92[AMR][1000 genomes]
rs12145703	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12145778	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12146072	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1330863	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs16849475	1.00[CEU][hapmap];0.92[AMR][1000 genomes]
rs28770189	0.85[AMR][1000 genomes]
rs4400573	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56230548	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7349083	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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
5	nsv872564	chr1:176027978-176102808	Enhancers Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	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

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:175978200-176050600	Weak transcription	Aorta	Aorta
2	chr1:175978400-176069000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr1:175994200-176065200	Weak transcription	Psoas Muscle	Psoas
4	chr1:176006200-176049000	Weak transcription	HSMM	muscle
5	chr1:176007800-176066400	Weak transcription	Fetal Brain Male	brain
6	chr1:176010400-176066000	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr1:176012400-176062800	Weak transcription	Lung	lung
8	chr1:176012400-176065800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr1:176028200-176079200	Weak transcription	HSMMtube	muscle
10	chr1:176028400-176049600	Weak transcription	K562	blood
11	chr1:176031000-176054000	Weak transcription	NH-A	brain
12	chr1:176035000-176069800	Weak transcription	NHEK	skin
13	chr1:176035200-176067600	Weak transcription	Colonic Mucosa	Colon
14	chr1:176035400-176066400	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr1:176035400-176067200	Weak transcription	HUVEC	blood vessel
16	chr1:176036000-176053800	Weak transcription	Placenta	Placenta
17	chr1:176036600-176049000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr1:176037200-176064600	Weak transcription	Gastric	stomach
19	chr1:176037200-176067200	Weak transcription	Small Intestine	intestine
20	chr1:176037200-176067400	Weak transcription	Osteobl	bone
21	chr1:176038600-176068800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr1:176038800-176051800	Weak transcription	Rectal Smooth Muscle	rectum
23	chr1:176038800-176059400	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr1:176039000-176048400	Weak transcription	Fetal Intestine Small	intestine
25	chr1:176039200-176068800	Weak transcription	HMEC	breast
26	chr1:176039400-176058800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr1:176040600-176065400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr1:176042200-176056600	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr1:176042800-176067200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr1:176043000-176065400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr1:176043200-176052200	Strong transcription	Primary monocytes fromperipheralblood	blood
32	chr1:176043400-176051200	Weak transcription	Brain Angular Gyrus	brain
33	chr1:176044400-176050600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr1:176044600-176050400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr1:176044800-176049200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr1:176045000-176050400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
37	chr1:176045000-176050400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr1:176045200-176050200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr1:176045200-176050200	ZNF genes & repeats	Primary T cells from cord blood	blood
40	chr1:176045200-176064600	Weak transcription	Fetal Stomach	stomach
41	chr1:176045600-176048600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr1:176045800-176050400	Strong transcription	Duodenum Mucosa	Duodenum
43	chr1:176045800-176066000	Weak transcription	Colon Smooth Muscle	Colon
44	chr1:176046200-176048400	Weak transcription	NHDF-Ad	bronchial
45	chr1:176046200-176051600	Weak transcription	Brain Hippocampus Middle	brain
46	chr1:176046400-176051600	Strong transcription	Dnd41	blood
47	chr1:176046400-176055000	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr1:176046400-176055400	Strong transcription	Monocytes-CD14+_RO01746	blood
49	chr1:176046600-176050400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
50	chr1:176046600-176057000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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