Variant report

Variant	rs7957744
Chromosome Location	chr12:104574785-104574786
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:104566313..104569865-chr12:104572688..104576807,3	K562	blood:
2	chr12:104528363..104533397-chr12:104570131..104576145,10	MCF-7	breast:

Variant related genes	Relation type
ENSG00000120837	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10861179	0.81[ASN][1000 genomes]
rs11111916	0.91[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs11111917	0.91[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs11111940	0.87[CEU][hapmap];0.90[JPT][hapmap];0.83[EUR][1000 genomes]
rs11613944	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs11829709	0.92[ASN][1000 genomes]
rs11836726	0.91[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs4246260	1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4246261	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4321026	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4371000	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4445711	0.82[CEU][hapmap];0.90[JPT][hapmap]
rs4522249	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4592489	0.84[ASN][1000 genomes]
rs4964256	0.84[ASN][1000 genomes]
rs4964626	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4964628	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4964678	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs5005907	0.81[ASN][1000 genomes]
rs61939220	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6539125	0.82[JPT][hapmap]
rs6539130	0.80[ASN][1000 genomes]
rs7297296	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7297956	0.87[CEU][hapmap];0.85[JPT][hapmap];0.83[EUR][1000 genomes]
rs7314893	0.85[YRI][hapmap]
rs7958262	0.88[CEU][hapmap];0.90[CHB][hapmap];0.91[JPT][hapmap]
rs7961381	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7966970	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7969538	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7972172	0.82[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7975524	0.88[CEU][hapmap];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9668556	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9705582	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045725	chr12:104524153-104614108	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	n/a
2	nsv541586	chr12:104524153-104614108	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	n/a
3	esv1842062	chr12:104531180-104638773	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	n/a
4	nsv899493	chr12:104548613-104703228	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
5	nsv899494	chr12:104561521-104806232	Flanking Active TSS Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104571000-104576600	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr12:104572200-104574800	Weak transcription	Fetal Muscle Leg	muscle
3	chr12:104572200-104575200	Weak transcription	Fetal Lung	lung
4	chr12:104572200-104575600	Weak transcription	Fetal Muscle Trunk	muscle
5	chr12:104572200-104575800	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr12:104572200-104576000	Weak transcription	Right Atrium	heart
7	chr12:104572400-104575000	Weak transcription	NH-A	brain
8	chr12:104572400-104575000	Weak transcription	NHDF-Ad	bronchial
9	chr12:104572400-104575200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr12:104572400-104576000	Weak transcription	Ovary	ovary
11	chr12:104572600-104574800	Weak transcription	Placenta	Placenta
12	chr12:104572600-104575200	Weak transcription	HSMMtube	muscle
13	chr12:104572600-104576200	Weak transcription	Psoas Muscle	Psoas
14	chr12:104573600-104575400	Flanking Active TSS	A549	lung
15	chr12:104573600-104576800	Enhancers	Colon Smooth Muscle	Colon
16	chr12:104573800-104575400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr12:104574000-104574800	Enhancers	Hela-S3	cervix
18	chr12:104574000-104576800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr12:104574200-104575800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr12:104574200-104576600	Enhancers	HMEC	breast
21	chr12:104574200-104576800	Enhancers	Muscle Satellite Cultured Cells	--
22	chr12:104574200-104576800	Enhancers	NHLF	lung
23	chr12:104574200-104577000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr12:104574200-104577000	Enhancers	Osteobl	bone
25	chr12:104574400-104575000	Enhancers	Lung	lung
26	chr12:104574400-104576400	Enhancers	Duodenum Smooth Muscle	Duodenum
27	chr12:104574400-104576400	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr12:104574400-104576800	Enhancers	Rectal Smooth Muscle	rectum
29	chr12:104574400-104577000	Enhancers	Adipose Nuclei	Adipose
30	chr12:104574600-104574800	Enhancers	Stomach Smooth Muscle	stomach
31	chr12:104574600-104575400	Weak transcription	Aorta	Aorta
32	chr12:104574600-104576600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr12:104574600-104576600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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