Variant report

Variant	rs7311047
Chromosome Location	chr12:119634954-119634955
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:119634370..119636287-chr12:119638890..119640452,2	MCF-7	breast:
2	chr12:119615010..119617058-chr12:119633848..119636832,2	MCF-7	breast:
3	chr12:119633765..119636889-chr12:119849565..119852732,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000152137	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10849633	0.80[ASN][1000 genomes]
rs11064693	0.80[ASN][1000 genomes]
rs11064700	0.92[ASN][1000 genomes]
rs11064706	0.87[ASN][1000 genomes]
rs1133026	0.92[ASN][1000 genomes]
rs12424136	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2278182	0.92[ASN][1000 genomes]
rs60380757	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
3	nsv983367	chr12:119632173-119636306	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:119618800-119639600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:119619200-119639000	Weak transcription	Colonic Mucosa	Colon
3	chr12:119620000-119636200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr12:119620000-119639200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr12:119620000-119639600	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr12:119627000-119636400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr12:119627000-119641600	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr12:119627200-119639000	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr12:119627400-119635600	Weak transcription	Osteobl	bone
10	chr12:119627600-119641600	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr12:119627800-119646600	Weak transcription	Gastric	stomach
12	chr12:119628200-119636200	Weak transcription	Brain Anterior Caudate	brain
13	chr12:119628400-119641200	Weak transcription	Fetal Heart	heart
14	chr12:119629200-119635200	Weak transcription	Rectal Smooth Muscle	rectum
15	chr12:119629600-119636400	Weak transcription	Right Atrium	heart
16	chr12:119631200-119639200	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr12:119632000-119642200	Weak transcription	Brain Substantia Nigra	brain
18	chr12:119632200-119642200	Weak transcription	Psoas Muscle	Psoas
19	chr12:119632400-119635600	Weak transcription	HSMM	muscle
20	chr12:119632400-119636600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr12:119632400-119638000	Weak transcription	Brain Hippocampus Middle	brain
22	chr12:119632400-119638600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr12:119632400-119638600	Weak transcription	Fetal Lung	lung
24	chr12:119632400-119641400	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr12:119632400-119641400	Weak transcription	HSMMtube	muscle
26	chr12:119632400-119642200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr12:119632800-119635800	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr12:119633200-119635400	Weak transcription	Ovary	ovary
29	chr12:119633200-119636400	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr12:119633400-119635000	Weak transcription	Spleen	Spleen
31	chr12:119633400-119638800	Weak transcription	Fetal Muscle Leg	muscle
32	chr12:119633400-119638800	Weak transcription	Left Ventricle	heart
33	chr12:119633400-119640200	Weak transcription	Right Ventricle	heart
34	chr12:119633600-119636200	Weak transcription	Fetal Stomach	stomach
35	chr12:119633600-119637400	Enhancers	Esophagus	oesophagus
36	chr12:119633800-119635600	Weak transcription	Colon Smooth Muscle	Colon
37	chr12:119633800-119636200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr12:119633800-119636200	Weak transcription	Aorta	Aorta
39	chr12:119633800-119636400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr12:119633800-119639600	Weak transcription	Fetal Muscle Trunk	muscle
41	chr12:119633800-119640600	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr12:119633800-119641600	Weak transcription	Adipose Nuclei	Adipose
43	chr12:119634400-119635000	Weak transcription	Stomach Smooth Muscle	stomach
44	chr12:119634400-119636800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr12:119634400-119640400	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr12:119634400-119642000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr12:119634600-119635400	Weak transcription	Placenta	Placenta
48	chr12:119634800-119636400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr12:119634800-119639000	Weak transcription	Lung	lung

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