Variant report

Variant	rs12331720
Chromosome Location	chr4:151373762-151373763
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:151367370..151369509-chr4:151372715..151374870,2	K562	blood:
2	chr4:151371820..151374055-chr4:151390607..151393059,2	K562	blood:
3	chr4:151373073..151374619-chr4:151378113..151379713,2	K562	blood:

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10027598	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs10029305	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs11099762	0.82[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs11099766	0.88[ASN][1000 genomes]
rs11931175	0.88[ASN][1000 genomes]
rs12512600	0.82[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs12648307	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs13105658	0.80[ASN][1000 genomes]
rs13111441	0.84[ASN][1000 genomes]
rs13144332	0.88[ASN][1000 genomes]
rs1504780	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1504781	0.92[ASN][1000 genomes]
rs1504784	0.82[ASN][1000 genomes]
rs1532822	0.88[ASN][1000 genomes]
rs1910720	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs1910721	0.82[AMR][1000 genomes]
rs1966052	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2001835	0.92[ASN][1000 genomes]
rs2134958	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2134960	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2135780	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs2174366	0.80[ASN][1000 genomes]
rs2884894	0.86[AFR][1000 genomes]
rs4396971	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4579100	0.82[AMR][1000 genomes]
rs4639047	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs4696186	0.88[ASN][1000 genomes]
rs6535736	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs6832193	0.81[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs6834928	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs6848343	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs6857952	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs7356294	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs7666634	0.82[AFR][1000 genomes]
rs7667511	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7670869	0.82[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs7674989	0.85[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs7676219	0.82[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs7678429	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7689850	0.86[AFR][1000 genomes]
rs7698007	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7698975	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs905767	0.92[ASN][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	nsv932022	chr4:150831733-151419552	Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv880256	chr4:151126725-151751369	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv817540	chr4:151228965-151858609	Strong transcription Active TSS Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv830112	chr4:151243801-151431771	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv869051	chr4:151347901-151737781	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv1024820	chr4:151364078-151943561	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:151333000-151408000	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr4:151344800-151387200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr4:151345000-151389000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr4:151352600-151377000	Weak transcription	Primary B cells from cord blood	blood
5	chr4:151356200-151386800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr4:151356600-151411200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr4:151356800-151376800	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr4:151356800-151377400	Weak transcription	Primary T cells from cord blood	blood
9	chr4:151356800-151391200	Weak transcription	Fetal Intestine Large	intestine
10	chr4:151358400-151377000	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr4:151358400-151398600	Weak transcription	GM12878-XiMat	blood
12	chr4:151358600-151377400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr4:151364600-151387400	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr4:151364600-151414800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr4:151372200-151377000	Weak transcription	Primary hematopoietic stem cells	blood
16	chr4:151372200-151377200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr4:151372200-151402200	Weak transcription	Fetal Intestine Small	intestine
18	chr4:151372600-151377000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr4:151373000-151377000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr4:151373600-151398000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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