Variant report

Variant	rs12079579
Chromosome Location	chr1:161880482-161880483
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	chr1:161878952..161881662-chr1:161891734..161893405,2	K562	blood:
2	chr1:161879997..161882988-chr1:161887506..161891115,3	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10399867	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10753686	0.87[YRI][hapmap]
rs10800079	0.84[ASN][1000 genomes]
rs10800151	0.86[AFR][1000 genomes]
rs10918029	1.00[CEU][hapmap];0.89[CHD][hapmap];0.92[GIH][hapmap];0.89[LWK][hapmap];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10918225	0.87[YRI][hapmap]
rs10918270	0.85[AFR][1000 genomes]
rs12042663	0.89[ASN][1000 genomes]
rs12076482	0.89[ASN][1000 genomes]
rs12078104	0.85[CHD][hapmap]
rs12097712	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12691498	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1503815	0.81[ASN][1000 genomes]
rs60578284	0.89[ASN][1000 genomes]
rs6660014	0.81[ASN][1000 genomes]
rs6672073	0.87[ASN][1000 genomes]
rs6698956	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7355188	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7516955	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33393	chr1:161478681-162080327	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
2	nsv464184	chr1:161646807-161885352	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv548075	chr1:161646807-161885352	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv464206	chr1:161798239-162067447	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv470744	chr1:161798239-162067447	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv548077	chr1:161798239-162067447	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	esv3440913	chr1:161864485-161897210	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	esv3353497	chr1:161864505-161897180	Enhancers Flanking Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161824200-161928400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr1:161824400-161882000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr1:161836600-161888400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr1:161859200-161885400	Weak transcription	Psoas Muscle	Psoas
5	chr1:161859400-161882600	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr1:161859400-161882800	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr1:161861200-161881200	Weak transcription	Ovary	ovary
8	chr1:161861400-161881200	Weak transcription	Aorta	Aorta
9	chr1:161861400-161881800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr1:161861400-161882000	Weak transcription	Adipose Nuclei	Adipose
11	chr1:161861400-161884000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr1:161861400-161884000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr1:161861400-161884400	Weak transcription	Fetal Intestine Large	intestine
14	chr1:161861600-161881000	Weak transcription	Primary B cells from cord blood	blood
15	chr1:161861600-161882400	Weak transcription	Placenta	Placenta
16	chr1:161861600-161882400	Weak transcription	Dnd41	blood
17	chr1:161861600-161883400	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr1:161861600-161883800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr1:161861600-161884000	Weak transcription	Fetal Muscle Leg	muscle
20	chr1:161861600-161884000	Weak transcription	Left Ventricle	heart
21	chr1:161861600-161884000	Weak transcription	Pancreas	Pancrea
22	chr1:161861600-161884000	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr1:161861600-161891400	Weak transcription	Rectal Smooth Muscle	rectum
24	chr1:161861600-161906400	Weak transcription	Stomach Smooth Muscle	stomach
25	chr1:161861600-161936000	Weak transcription	Fetal Intestine Small	intestine
26	chr1:161861800-161881400	Weak transcription	Primary B cells from peripheral blood	blood
27	chr1:161861800-161882400	Weak transcription	Liver	Liver
28	chr1:161861800-161883800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr1:161862000-161882000	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr1:161862000-161883400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr1:161862200-161881000	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr1:161862400-161881800	Weak transcription	Primary hematopoietic stem cells	blood
33	chr1:161863400-161881600	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr1:161874200-161884200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr1:161874400-161884000	Weak transcription	NHEK	skin
36	chr1:161875000-161884000	Weak transcription	GM12878-XiMat	blood
37	chr1:161875200-161882400	Weak transcription	Primary T helper cells fromperipheralblood	blood
38	chr1:161875200-161884200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr1:161875400-161881200	Weak transcription	Primary T cells from cord blood	blood
40	chr1:161875400-161881800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr1:161875400-161882000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr1:161875600-161883000	Weak transcription	Primary T helper cells PMA-I stimulated	--
43	chr1:161875600-161888400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr1:161875800-161884000	Weak transcription	Gastric	stomach
45	chr1:161876800-161881600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr1:161876800-161883400	Weak transcription	K562	blood
47	chr1:161877200-161881400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr1:161877400-161884000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr1:161877400-161891400	Weak transcription	Colon Smooth Muscle	Colon
50	chr1:161878200-161888200	Weak transcription	Fetal Heart	heart

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