Variant report

Variant	rs11175247
Chromosome Location	chr12:64460759-64460760
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	chr12:64451839..64454693-chr12:64459010..64460999,2	MCF-7	breast:

Extended variants
information (count: 2 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs12311284	1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3351487	chr12:64420364-64763950	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:64432000-64466400	Weak transcription	Pancreas	Pancrea
2	chr12:64433600-64460800	Weak transcription	Aorta	Aorta
3	chr12:64433600-64474200	Weak transcription	Left Ventricle	heart
4	chr12:64434000-64481600	Weak transcription	HUVEC	blood vessel
5	chr12:64436600-64474200	Weak transcription	Rectal Smooth Muscle	rectum
6	chr12:64436800-64474200	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr12:64440000-64479200	Weak transcription	Esophagus	oesophagus
8	chr12:64441000-64475000	Weak transcription	Hela-S3	cervix
9	chr12:64445200-64474200	Weak transcription	Fetal Lung	lung
10	chr12:64451200-64476600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr12:64453000-64465400	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr12:64453000-64476600	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr12:64453200-64461600	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr12:64453400-64467000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr12:64453600-64472800	Weak transcription	Brain Anterior Caudate	brain
16	chr12:64453800-64473600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr12:64453800-64476600	Weak transcription	Brain Substantia Nigra	brain
18	chr12:64454800-64476600	Weak transcription	Brain Hippocampus Middle	brain
19	chr12:64455000-64474200	Weak transcription	Colon Smooth Muscle	Colon
20	chr12:64455200-64481600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr12:64455400-64461000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr12:64456400-64461200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr12:64457000-64460800	Strong transcription	HMEC	breast
24	chr12:64457000-64462600	Weak transcription	Spleen	Spleen
25	chr12:64457000-64510600	Weak transcription	HepG2	liver
26	chr12:64457600-64465200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr12:64457600-64472600	Weak transcription	Lung	lung
28	chr12:64457800-64474000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr12:64457800-64474400	Weak transcription	Small Intestine	intestine
30	chr12:64458000-64461200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr12:64458200-64461000	Weak transcription	Liver	Liver
32	chr12:64458200-64461000	Strong transcription	HSMM	muscle
33	chr12:64458200-64461600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr12:64458200-64461600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr12:64458200-64462000	Strong transcription	A549	lung
36	chr12:64458400-64461800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr12:64458400-64462000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr12:64458600-64461000	Strong transcription	Stomach Smooth Muscle	stomach
39	chr12:64458600-64461600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr12:64459000-64461000	Strong transcription	Fetal Muscle Leg	muscle
41	chr12:64459000-64462200	Weak transcription	Fetal Stomach	stomach
42	chr12:64459000-64469200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr12:64459000-64472600	Weak transcription	Fetal Intestine Large	intestine
44	chr12:64459000-64472600	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr12:64459000-64474000	Weak transcription	Ovary	ovary
46	chr12:64459000-64476600	Weak transcription	Brain Cingulate Gyrus	brain
47	chr12:64459000-64479800	Weak transcription	Gastric	stomach
48	chr12:64459200-64474200	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr12:64459400-64466400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr12:64459800-64461600	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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