Variant report

Variant	rs7304005
Chromosome Location	chr12:119622865-119622866
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	chr12:119618981..119622944-chr12:119623767..119626992,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000152137	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11064683	1.00[CEU][hapmap]
rs11064685	1.00[CEU][hapmap];0.88[CHD][hapmap];0.83[JPT][hapmap];0.85[TSI][hapmap];0.87[EUR][1000 genomes]
rs11064694	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11064695	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11064699	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11064701	0.93[CHB][hapmap];0.91[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11064704	0.85[CEU][hapmap];0.93[CHB][hapmap];0.91[GIH][hapmap];0.83[JPT][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12227588	0.87[EUR][1000 genomes]
rs12811848	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12812680	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34109560	0.83[EUR][1000 genomes]
rs34168259	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34658242	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34689026	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35911573	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs36005387	0.81[EUR][1000 genomes]
rs3782919	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66886955	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67681082	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68062239	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs68067444	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7138273	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7303637	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][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]
rs73213443	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73213444	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7975529	1.00[CEU][hapmap];0.83[JPT][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9634173	0.91[EUR][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	nsv1047036	chr12:119477583-119992640	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv899550	chr12:119581131-119654315	Enhancers Strong transcription Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:119616400-119623000	Active TSS	Colon Smooth Muscle	Colon
2	chr12:119617400-119629000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr12:119618400-119624000	Weak transcription	Spleen	Spleen
4	chr12:119618400-119626400	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr12:119618800-119625800	Weak transcription	Gastric	stomach
6	chr12:119618800-119631000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr12:119618800-119639600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr12:119619000-119626400	Weak transcription	Osteobl	bone
9	chr12:119619200-119631600	Weak transcription	Pancreas	Pancrea
10	chr12:119619200-119639000	Weak transcription	Colonic Mucosa	Colon
11	chr12:119619400-119623400	Weak transcription	Fetal Stomach	stomach
12	chr12:119619600-119625600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr12:119619800-119624600	Weak transcription	NHLF	lung
14	chr12:119620000-119624000	Weak transcription	Brain Angular Gyrus	brain
15	chr12:119620000-119624400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr12:119620000-119626400	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr12:119620000-119634000	Weak transcription	HUVEC	blood vessel
18	chr12:119620000-119636200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr12:119620000-119639200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr12:119620000-119639600	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr12:119620200-119624600	Weak transcription	Brain Substantia Nigra	brain
22	chr12:119620800-119623800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr12:119621000-119624000	Weak transcription	Brain Cingulate Gyrus	brain
24	chr12:119621000-119624000	Weak transcription	HSMMtube	muscle
25	chr12:119621000-119624400	Enhancers	Adipose Nuclei	Adipose
26	chr12:119621000-119625800	Weak transcription	Hela-S3	cervix
27	chr12:119621000-119626400	Weak transcription	HSMM	muscle
28	chr12:119621200-119624000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr12:119621200-119626400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr12:119621200-119632200	Weak transcription	Fetal Thymus	thymus
31	chr12:119621400-119623600	Weak transcription	Fetal Lung	lung
32	chr12:119621400-119624400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr12:119621800-119624000	Weak transcription	Brain Hippocampus Middle	brain
34	chr12:119621800-119629200	Genic enhancers	Placenta	Placenta
35	chr12:119622400-119623800	Active TSS	Right Atrium	heart
36	chr12:119622400-119624000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr12:119622400-119624200	Weak transcription	Lung	lung
38	chr12:119622400-119624400	Weak transcription	Fetal Muscle Trunk	muscle
39	chr12:119622400-119624600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr12:119622400-119624600	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr12:119622400-119626400	Weak transcription	NH-A	brain
42	chr12:119622400-119626800	Weak transcription	NHDF-Ad	bronchial
43	chr12:119622400-119628800	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr12:119622400-119629000	Weak transcription	Esophagus	oesophagus
45	chr12:119622600-119623000	Weak transcription	Fetal Muscle Leg	muscle
46	chr12:119622600-119623600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr12:119622600-119623800	Weak transcription	Rectal Smooth Muscle	rectum
48	chr12:119622600-119624000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr12:119622600-119624000	Weak transcription	Brain Anterior Caudate	brain
50	chr12:119622600-119624000	Weak transcription	Ovary	ovary

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