Variant report

Variant	rs1731453
Chromosome Location	chr12:44250528-44250529
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:44249126..44251692-chr12:44253550..44257434,4	MCF-7	breast:
2	chr12:44229192..44231344-chr12:44248420..44250942,2	K562	blood:
3	chr12:44197746..44199436-chr12:44249235..44251144,2	K562	blood:

Variant related genes	Relation type
ENSG00000139173	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10736017	0.80[EUR][1000 genomes]
rs10748373	0.88[ASN][1000 genomes]
rs12298970	0.88[ASN][1000 genomes]
rs12311962	1.00[CHB][hapmap];0.88[ASN][1000 genomes]
rs12314126	1.00[CHB][hapmap];0.88[ASN][1000 genomes]
rs1675765	1.00[CHB][hapmap]
rs1675766	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1675771	1.00[CHB][hapmap];0.88[ASN][1000 genomes]
rs1675774	0.83[ASN][1000 genomes]
rs1675776	0.81[ASN][1000 genomes]
rs1675778	1.00[CHB][hapmap];0.88[ASN][1000 genomes]
rs1675782	1.00[CHB][hapmap];0.88[ASN][1000 genomes]
rs1675783	0.88[ASN][1000 genomes]
rs1675784	0.88[ASN][1000 genomes]
rs1675786	0.88[ASN][1000 genomes]
rs1675788	1.00[CHB][hapmap];0.88[ASN][1000 genomes]
rs1675791	1.00[CHB][hapmap];0.88[ASN][1000 genomes]
rs1731422	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1731427	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs1731429	0.85[EUR][1000 genomes]
rs1731438	0.88[ASN][1000 genomes]
rs1731439	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs1731440	1.00[CHB][hapmap];0.88[ASN][1000 genomes]
rs1731442	1.00[CHB][hapmap];0.88[ASN][1000 genomes]
rs1731449	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2447114	0.88[ASN][1000 genomes]
rs2447115	0.88[ASN][1000 genomes]
rs2447116	0.83[ASN][1000 genomes]
rs2614394	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs2699992	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2951436	0.88[ASN][1000 genomes]
rs4238090	0.82[EUR][1000 genomes]
rs4354753	1.00[CEU][hapmap]
rs4768049	0.88[ASN][1000 genomes]
rs73098836	0.88[ASN][1000 genomes]
rs7953229	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7957146	0.82[ASN][1000 genomes]
rs7958314	0.82[ASN][1000 genomes]
rs7965635	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7966024	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933142	chr12:44130156-44278300	Active TSS Flanking Active TSS Genic enhancers Weak transcription Strong transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv899048	chr12:44209423-44307888	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 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	chr12:44230400-44250800	Weak transcription	Gastric	stomach
2	chr12:44230800-44250800	Weak transcription	Pancreas	Pancrea
3	chr12:44230800-44254800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr12:44230800-44260200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr12:44231000-44251800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr12:44231000-44252200	Weak transcription	Rectal Smooth Muscle	rectum
7	chr12:44231000-44254600	Weak transcription	GM12878-XiMat	blood
8	chr12:44231200-44261600	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr12:44233400-44254400	Weak transcription	Left Ventricle	heart
10	chr12:44233600-44251200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr12:44234200-44254000	Weak transcription	Primary B cells from cord blood	blood
12	chr12:44234600-44260000	Weak transcription	Psoas Muscle	Psoas
13	chr12:44237800-44254200	Weak transcription	Small Intestine	intestine
14	chr12:44240400-44293000	Weak transcription	Aorta	Aorta
15	chr12:44241400-44254000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr12:44241600-44251800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr12:44241600-44252200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr12:44242800-44250800	Weak transcription	Esophagus	oesophagus
19	chr12:44243000-44258000	Weak transcription	Fetal Intestine Small	intestine
20	chr12:44243200-44252000	Weak transcription	HMEC	breast
21	chr12:44244400-44253200	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr12:44244400-44257400	Weak transcription	Fetal Intestine Large	intestine
23	chr12:44244600-44253200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr12:44245800-44255400	Weak transcription	HSMM	muscle
25	chr12:44247000-44254200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr12:44248000-44250600	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr12:44248000-44251800	Weak transcription	HSMMtube	muscle
28	chr12:44248200-44251800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr12:44248200-44252000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr12:44250200-44252800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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