Variant report

Variant	rs34097145
Chromosome Location	chr12:121738241-121738242
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:121734467..121737087-chr12:121737229..121740129,2	MCF-7	breast:
2	chr12:121737101..121740224-chr12:121740653..121743951,4	K562	blood:
3	chr12:121736650..121739500-chr12:121740653..121743814,3	K562	blood:
4	chr12:121723906..121727301-chr12:121738225..121741362,3	K562	blood:

Variant related genes	Relation type
ENSG00000110931	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10400545	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11610060	1.00[ASN][1000 genomes]
rs11610335	1.00[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11611253	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11613001	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11614587	1.00[AFR][1000 genomes]
rs11614859	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11615493	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11616052	1.00[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11831561	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11836127	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12809685	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12810635	1.00[LWK][hapmap]
rs12813237	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12815130	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12819229	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12821054	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12825462	1.00[ASN][1000 genomes]
rs12825611	1.00[CHB][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];1.00[MEX][hapmap];1.00[ASN][1000 genomes]
rs12830931	1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34301487	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34306762	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs34439313	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs34606348	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34898852	1.00[ASN][1000 genomes]
rs35057346	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs35252229	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35312287	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs35481664	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35583078	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35718230	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35853173	1.00[ASN][1000 genomes]
rs35882228	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35933304	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs36122756	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71454687	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71454688	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71454689	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71454690	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv560454	chr12:121457073-121745742	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1054878	chr12:121519880-121761800	Flanking Active TSS Genic enhancers Strong transcription Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv455729	chr12:121525591-121761800	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	nsv560455	chr12:121525591-121761800	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv1050519	chr12:121552964-121756420	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
7	nsv1048801	chr12:121695522-121761800	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121735400-121745800	Weak transcription	Small Intestine	intestine
2	chr12:121735600-121739600	Weak transcription	NHDF-Ad	bronchial
3	chr12:121735600-121739800	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr12:121735600-121745400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr12:121735600-121745600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr12:121735600-121745600	Weak transcription	Left Ventricle	heart
7	chr12:121735600-121745600	Weak transcription	HSMMtube	muscle
8	chr12:121735600-121745800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr12:121735600-121745800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr12:121735600-121745800	Weak transcription	Gastric	stomach
11	chr12:121735600-121745800	Weak transcription	Ovary	ovary
12	chr12:121735600-121745800	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr12:121735600-121745800	Weak transcription	A549	lung
14	chr12:121735600-121746000	Weak transcription	Brain Substantia Nigra	brain
15	chr12:121735600-121746000	Weak transcription	HMEC	breast
16	chr12:121735600-121747400	Weak transcription	NHLF	lung
17	chr12:121735600-121755600	Weak transcription	Brain Angular Gyrus	brain
18	chr12:121735600-121755800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr12:121735600-121755800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr12:121735600-121755800	Weak transcription	Aorta	Aorta
21	chr12:121735600-121755800	Weak transcription	Esophagus	oesophagus
22	chr12:121735800-121744600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr12:121735800-121745600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr12:121735800-121745600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr12:121735800-121745600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr12:121735800-121745600	Weak transcription	Brain Germinal Matrix	brain
27	chr12:121735800-121745600	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr12:121735800-121745600	Weak transcription	Thymus	Thymus
29	chr12:121735800-121745800	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr12:121735800-121745800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr12:121735800-121745800	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr12:121735800-121745800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr12:121735800-121745800	Weak transcription	Primary T cells from cord blood	blood
34	chr12:121735800-121745800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr12:121735800-121745800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr12:121735800-121745800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr12:121735800-121745800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr12:121735800-121745800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr12:121735800-121745800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr12:121735800-121745800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr12:121735800-121745800	Weak transcription	Brain Anterior Caudate	brain
42	chr12:121735800-121745800	Weak transcription	Brain Hippocampus Middle	brain
43	chr12:121735800-121745800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr12:121735800-121745800	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr12:121735800-121745800	Weak transcription	Lung	lung
46	chr12:121735800-121745800	Weak transcription	Dnd41	blood
47	chr12:121735800-121745800	Weak transcription	NHEK	skin
48	chr12:121735800-121746000	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr12:121735800-121747200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr12:121735800-121747400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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