Variant report

Variant	rs10915940
Chromosome Location	chr1:226301852-226301853
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:226299067..226303074-chr1:226308302..226311904,7	K562	blood:
2	chr1:226295177..226301855-chr1:226303668..226313005,25	K562	blood:
3	chr1:226106901..226109503-chr1:226300176..226301873,2	K562	blood:
4	chr1:226247341..226256471-chr1:226296212..226302215,23	K562	blood:

Variant related genes	Relation type
ENSG00000272562	Chromatin interaction
ENSG00000163041	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	0.83[ASN][1000 genomes]
rs10915938	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10915939	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12121071	0.80[ASN][1000 genomes]
rs12123950	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12130296	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12131977	0.90[ASN][1000 genomes]
rs12136759	0.88[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs12145818	0.84[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs1877153	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1877155	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1877156	0.84[EUR][1000 genomes]
rs1877161	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35152719	0.90[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs3887559	0.90[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs4592232	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4653715	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs67947191	0.90[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs72757092	0.90[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs9645314	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[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:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226298800-226303800	Weak transcription	Ovary	ovary
2	chr1:226299000-226303400	Weak transcription	NHEK	skin
3	chr1:226299000-226303800	Weak transcription	HMEC	breast
4	chr1:226299000-226308800	Weak transcription	A549	lung
5	chr1:226299400-226303800	Weak transcription	Fetal Thymus	thymus
6	chr1:226299600-226303800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:226299600-226303800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr1:226299600-226304000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr1:226299600-226308400	Weak transcription	Primary hematopoietic stem cells	blood
10	chr1:226299600-226308800	Weak transcription	Fetal Intestine Small	intestine
11	chr1:226299800-226303400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr1:226299800-226303400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr1:226299800-226303800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr1:226299800-226303800	Weak transcription	Esophagus	oesophagus
15	chr1:226299800-226306800	Weak transcription	Spleen	Spleen
16	chr1:226299800-226308800	Weak transcription	Gastric	stomach
17	chr1:226299800-226309000	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr1:226300000-226303400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr1:226300000-226308200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr1:226300000-226308200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr1:226300400-226306000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr1:226300800-226303600	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr1:226300800-226305600	Weak transcription	HSMMtube	muscle
24	chr1:226301000-226303400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr1:226301000-226303800	Weak transcription	K562	blood
26	chr1:226301000-226306000	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr1:226301000-226306600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr1:226301400-226306200	Weak transcription	Primary B cells from cord blood	blood
29	chr1:226301800-226306000	Weak transcription	Primary B cells from peripheral blood	blood

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