Variant report

Variant	rs12130296
Chromosome Location	chr1:226300884-226300885
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:226185830..226192188-chr1:226295102..226300995,14	K562	blood:
2	chr1:226299067..226303074-chr1:226308302..226311904,7	K562	blood:
3	chr1:226291063..226294065-chr1:226297850..226301516,3	MCF-7	breast:
4	chr1:226295177..226301855-chr1:226303668..226313005,25	K562	blood:
5	chr1:226295676..226301816-chr1:226302378..226313716,36	MCF-7	breast:
6	chr1:226106901..226109503-chr1:226300176..226301873,2	K562	blood:
7	chr1:226259780..226262512-chr1:226298395..226301346,2	K562	blood:
8	chr1:226268761..226273887-chr1:226296275..226301554,11	MCF-7	breast:
9	chr1:226247341..226256471-chr1:226296212..226302215,23	K562	blood:
10	chr1:226248153..226256692-chr1:226295520..226301397,23	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000225518	Chromatin interaction
ENSG00000163041	Chromatin interaction
ENSG00000272562	Chromatin interaction
ENSG00000143751	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10915933	0.85[ASN][1000 genomes]
rs10915938	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10915939	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10915940	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12121071	0.82[ASN][1000 genomes]
rs12123950	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12131977	0.92[ASN][1000 genomes]
rs12136759	0.85[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs12145818	0.81[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs1877153	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1877155	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1877156	0.84[EUR][1000 genomes]
rs1877161	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35152719	0.87[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs3887559	0.87[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs4592232	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4653715	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67947191	0.87[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs72757092	0.87[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs9645314	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832747	chr1:226194143-226373415	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
2	nsv873232	chr1:226242772-226375267	Active TSS Flanking Active TSS Genic enhancers Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
3	esv1792510	chr1:226277560-226323824	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226298800-226303800	Weak transcription	Ovary	ovary
2	chr1:226299000-226301000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr1:226299000-226301600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr1:226299000-226301800	Enhancers	Primary B cells from peripheral blood	blood
5	chr1:226299000-226303400	Weak transcription	NHEK	skin
6	chr1:226299000-226303800	Weak transcription	HMEC	breast
7	chr1:226299000-226308800	Weak transcription	A549	lung
8	chr1:226299400-226303800	Weak transcription	Fetal Thymus	thymus
9	chr1:226299600-226301000	Enhancers	K562	blood
10	chr1:226299600-226303800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:226299600-226303800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr1:226299600-226304000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr1:226299600-226308400	Weak transcription	Primary hematopoietic stem cells	blood
14	chr1:226299600-226308800	Weak transcription	Fetal Intestine Small	intestine
15	chr1:226299800-226303400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr1:226299800-226303400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr1:226299800-226303800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr1:226299800-226303800	Weak transcription	Esophagus	oesophagus
19	chr1:226299800-226306800	Weak transcription	Spleen	Spleen
20	chr1:226299800-226308800	Weak transcription	Gastric	stomach
21	chr1:226299800-226309000	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr1:226300000-226301400	Enhancers	Primary B cells from cord blood	blood
23	chr1:226300000-226303400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr1:226300000-226308200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr1:226300000-226308200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr1:226300400-226301000	Enhancers	H1 Cell Line	embryonic stem cell
27	chr1:226300400-226306000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr1:226300800-226301000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr1:226300800-226303600	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr1:226300800-226305600	Weak transcription	HSMMtube	muscle

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