Variant report

Variant	rs1623667
Chromosome Location	chr12:44249258-44249259
allele	A/T
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: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs1057486	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10748373	0.85[EUR][1000 genomes]
rs11182293	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12298970	0.84[EUR][1000 genomes]
rs12311962	0.84[EUR][1000 genomes]
rs12314126	0.81[EUR][1000 genomes]
rs1358705	0.82[ASN][1000 genomes]
rs1406787	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1614042	0.82[ASN][1000 genomes]
rs1621279	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1622590	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs1623829	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1675755	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs1675756	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1675758	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1675764	0.82[ASN][1000 genomes]
rs1675765	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1675767	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1675769	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1675771	0.85[EUR][1000 genomes]
rs1675774	0.84[EUR][1000 genomes]
rs1675776	0.85[EUR][1000 genomes]
rs1675778	0.85[EUR][1000 genomes]
rs1675782	0.85[EUR][1000 genomes]
rs1675783	0.85[EUR][1000 genomes]
rs1675784	0.85[EUR][1000 genomes]
rs1675787	0.82[ASN][1000 genomes]
rs1675788	0.82[EUR][1000 genomes]
rs1675789	0.82[ASN][1000 genomes]
rs1675790	0.82[ASN][1000 genomes]
rs1731423	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1731427	0.81[ASN][1000 genomes]
rs1731429	0.81[ASN][1000 genomes]
rs1731430	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1731431	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1731432	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1731434	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1731438	0.84[EUR][1000 genomes]
rs1731439	0.84[EUR][1000 genomes]
rs1731440	0.85[EUR][1000 genomes]
rs1731442	0.85[EUR][1000 genomes]
rs1731448	0.85[EUR][1000 genomes]
rs1731452	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1731454	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1731456	0.82[ASN][1000 genomes]
rs1731457	0.82[ASN][1000 genomes]
rs1731458	0.82[ASN][1000 genomes]
rs1731459	0.82[ASN][1000 genomes]
rs2219629	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2447113	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2447114	0.85[EUR][1000 genomes]
rs2447115	0.85[EUR][1000 genomes]
rs2447116	0.85[EUR][1000 genomes]
rs2614394	0.82[ASN][1000 genomes]
rs2951436	0.85[EUR][1000 genomes]
rs4768049	0.85[EUR][1000 genomes]
rs7305609	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73096934	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7955615	0.83[AFR][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	chr12:44231000-44249800	Weak transcription	Duodenum Mucosa	Duodenum
6	chr12:44231000-44251800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr12:44231000-44252200	Weak transcription	Rectal Smooth Muscle	rectum
8	chr12:44231000-44254600	Weak transcription	GM12878-XiMat	blood
9	chr12:44231200-44261600	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr12:44233400-44254400	Weak transcription	Left Ventricle	heart
11	chr12:44233600-44251200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr12:44234200-44254000	Weak transcription	Primary B cells from cord blood	blood
13	chr12:44234600-44260000	Weak transcription	Psoas Muscle	Psoas
14	chr12:44237800-44254200	Weak transcription	Small Intestine	intestine
15	chr12:44240400-44293000	Weak transcription	Aorta	Aorta
16	chr12:44241400-44254000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr12:44241600-44251800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr12:44241600-44252200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr12:44242800-44250800	Weak transcription	Esophagus	oesophagus
20	chr12:44243000-44258000	Weak transcription	Fetal Intestine Small	intestine
21	chr12:44243200-44252000	Weak transcription	HMEC	breast
22	chr12:44244400-44253200	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr12:44244400-44257400	Weak transcription	Fetal Intestine Large	intestine
24	chr12:44244600-44253200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr12:44245800-44255400	Weak transcription	HSMM	muscle
26	chr12:44247000-44254200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr12:44248000-44250600	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr12:44248000-44251800	Weak transcription	HSMMtube	muscle
29	chr12:44248200-44251800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr12:44248200-44252000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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