Variant report

Variant	rs720944
Chromosome Location	chr12:44237303-44237304
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:44235291..44238339-chr12:44243528..44246812,3	K562	blood:
2	chr12:44236123..44237958-chr12:44238199..44240039,2	MCF-7	breast:
3	chr12:44195094..44197185-chr12:44236657..44238234,2	MCF-7	breast:
4	chr12:44228890..44231522-chr12:44236101..44238646,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000139173	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs11182298	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11182299	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11182300	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11182301	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11182303	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11182304	0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11182305	0.97[ASN][1000 genomes]
rs11182308	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11182310	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11182314	0.93[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11182323	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11182331	0.82[CHB][hapmap];1.00[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs11182334	1.00[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs11182336	1.00[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs11182340	1.00[AFR][1000 genomes]
rs11182351	1.00[AFR][1000 genomes]
rs11182352	1.00[AFR][1000 genomes]
rs12227646	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12228658	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12229491	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12229940	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12230284	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12230727	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12230751	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12231136	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12231953	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs17093804	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1731432	1.00[JPT][hapmap]
rs1948516	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2199390	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3829807	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61930682	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7296222	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs766961	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[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:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44230400-44243800	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr12:44230400-44244200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr12:44230400-44250800	Weak transcription	Gastric	stomach
4	chr12:44230600-44241200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr12:44230800-44241200	Weak transcription	Placenta	Placenta
6	chr12:44230800-44243800	Weak transcription	Ovary	ovary
7	chr12:44230800-44250800	Weak transcription	Pancreas	Pancrea
8	chr12:44230800-44254800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr12:44230800-44260200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr12:44231000-44239200	Weak transcription	Stomach Smooth Muscle	stomach
11	chr12:44231000-44240200	Weak transcription	Hela-S3	cervix
12	chr12:44231000-44240800	Weak transcription	Primary B cells from peripheral blood	blood
13	chr12:44231000-44241200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr12:44231000-44242800	Weak transcription	Colon Smooth Muscle	Colon
15	chr12:44231000-44245800	Weak transcription	Adipose Nuclei	Adipose
16	chr12:44231000-44245800	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr12:44231000-44249800	Weak transcription	Duodenum Mucosa	Duodenum
18	chr12:44231000-44251800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr12:44231000-44252200	Weak transcription	Rectal Smooth Muscle	rectum
20	chr12:44231000-44254600	Weak transcription	GM12878-XiMat	blood
21	chr12:44231200-44238000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr12:44231200-44238400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr12:44231200-44238600	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr12:44231200-44261600	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr12:44231400-44245800	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr12:44231400-44245800	Weak transcription	Liver	Liver
27	chr12:44231800-44241000	Weak transcription	Fetal Intestine Small	intestine
28	chr12:44232200-44238600	Weak transcription	Fetal Intestine Large	intestine
29	chr12:44232200-44239600	Weak transcription	Brain Angular Gyrus	brain
30	chr12:44232200-44240200	Weak transcription	HMEC	breast
31	chr12:44233400-44254400	Weak transcription	Left Ventricle	heart
32	chr12:44233600-44251200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr12:44234200-44254000	Weak transcription	Primary B cells from cord blood	blood
34	chr12:44234400-44238400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr12:44234600-44260000	Weak transcription	Psoas Muscle	Psoas
36	chr12:44235200-44238400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr12:44235600-44241200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr12:44235800-44240800	Weak transcription	HSMM	muscle
39	chr12:44235800-44241200	Weak transcription	NHDF-Ad	bronchial
40	chr12:44236000-44237800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr12:44236000-44240800	Weak transcription	HSMMtube	muscle
42	chr12:44236000-44241000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr12:44236200-44241000	Weak transcription	Osteobl	bone
44	chr12:44236200-44241200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr12:44236400-44241200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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