Variant report

Variant	rs6675212
Chromosome Location	chr1:76230829-76230830
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:76225609..76234140-chr1:76249320..76256385,15	K562	blood:
2	chr1:76225579..76234839-chr1:76250485..76256385,12	K562	blood:
3	chr1:76189616..76192216-chr1:76229910..76232221,2	K562	blood:
4	chr1:76230100..76233038-chr1:76235257..76238207,3	K562	blood:
5	chr1:76189779..76193435-chr1:76229737..76232893,5	K562	blood:
6	chr1:76230023..76233011-chr1:76235018..76236757,2	K562	blood:

Variant related genes	Relation type
ENSG00000201487	Chromatin interaction
ENSG00000178193	Chromatin interaction
ENSG00000137955	Chromatin interaction
ENSG00000206620	Chromatin interaction
ENSG00000117054	Chromatin interaction
ENSG00000207241	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs11161699	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11163915	0.85[EUR][1000 genomes]
rs11163967	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11164042	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11578480	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11579752	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11584577	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11588643	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11810154	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12118229	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12118306	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12125933	0.85[EUR][1000 genomes]
rs12126155	0.85[EUR][1000 genomes]
rs12129523	0.84[EUR][1000 genomes]
rs12130334	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12130832	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12131344	0.85[EUR][1000 genomes]
rs12131493	0.85[EUR][1000 genomes]
rs12132503	0.85[EUR][1000 genomes]
rs12132750	0.85[EUR][1000 genomes]
rs12138018	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12142247	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12145870	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1498311	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17585530	0.85[EUR][1000 genomes]
rs17647178	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17647711	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17848068	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1846233	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2029682	0.85[EUR][1000 genomes]
rs2147039	0.86[EUR][1000 genomes]
rs4403585	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4638068	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4646960	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57249318	0.85[EUR][1000 genomes]
rs5745325	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs5745331	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs5745347	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs5745383	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs5745430	0.86[EUR][1000 genomes]
rs60550898	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6656501	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6664254	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6704444	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs721204	0.88[ASN][1000 genomes]
rs72979226	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs74090722	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74090730	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][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	nsv519329	chr1:75830438-76358591	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv830281	chr1:76095292-76251053	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv1014072	chr1:76200531-76460726	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv535005	chr1:76200531-76460726	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	esv2763563	chr1:76229839-76245374	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:76208800-76231400	Weak transcription	A549	lung
2	chr1:76208800-76231400	Weak transcription	NHEK	skin
3	chr1:76208800-76231600	Weak transcription	Hela-S3	cervix
4	chr1:76210200-76231800	Weak transcription	HSMMtube	muscle
5	chr1:76217600-76231400	Weak transcription	Osteobl	bone
6	chr1:76221200-76231400	Weak transcription	Gastric	stomach
7	chr1:76221200-76238400	Weak transcription	Brain Cingulate Gyrus	brain
8	chr1:76221400-76231200	Weak transcription	NH-A	brain
9	chr1:76221400-76231400	Weak transcription	Pancreas	Pancrea
10	chr1:76221400-76233200	Weak transcription	Brain Anterior Caudate	brain
11	chr1:76221600-76231000	Weak transcription	Aorta	Aorta
12	chr1:76221600-76231000	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr1:76221600-76231000	Weak transcription	Right Ventricle	heart
14	chr1:76221600-76231200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr1:76221600-76231400	Weak transcription	Fetal Heart	heart
16	chr1:76221600-76231400	Weak transcription	Ovary	ovary
17	chr1:76221600-76231400	Weak transcription	HSMM	muscle
18	chr1:76221600-76231600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr1:76221600-76231600	Weak transcription	Esophagus	oesophagus
20	chr1:76221600-76231800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr1:76221600-76232200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr1:76221600-76234200	Weak transcription	Thymus	Thymus
23	chr1:76221800-76231400	Weak transcription	Primary T cells from cord blood	blood
24	chr1:76221800-76232600	Weak transcription	Fetal Brain Male	brain
25	chr1:76222000-76231000	Weak transcription	Fetal Lung	lung
26	chr1:76222000-76231200	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr1:76222000-76231600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr1:76222000-76231600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr1:76222000-76231600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr1:76222000-76233400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr1:76222000-76233800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr1:76222000-76236600	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr1:76222000-76237000	Weak transcription	Brain Angular Gyrus	brain
34	chr1:76222200-76231600	Weak transcription	Brain Hippocampus Middle	brain
35	chr1:76223800-76236600	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr1:76224200-76231600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr1:76224400-76231400	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr1:76224400-76232800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr1:76224600-76231000	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr1:76224600-76231600	Weak transcription	Fetal Brain Female	brain
41	chr1:76224800-76231400	Weak transcription	Fetal Intestine Small	intestine
42	chr1:76224800-76231600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr1:76225000-76231000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr1:76225200-76231200	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr1:76225200-76231200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr1:76225200-76231400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr1:76225200-76231800	Weak transcription	Spleen	Spleen
48	chr1:76226800-76231600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr1:76227400-76249800	Weak transcription	Primary B cells from peripheral blood	blood
50	chr1:76227800-76233200	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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