Variant report

Variant	rs12234771
Chromosome Location	chr7:80402604-80402605
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:80399487..80403223-chr7:80403942..80406761,3	MCF-7	breast:
2	chr7:80396716..80399626-chr7:80402276..80404185,2	MCF-7	breast:

Extended variants
information (count: 3 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs73386811	1.00[EUR][1000 genomes]
rs73386822	1.00[EUR][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	nsv888524	chr7:80107798-80723062	Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS 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	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:80371000-80410000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr7:80374600-80410200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr7:80378200-80410600	Weak transcription	Fetal Brain Female	brain
4	chr7:80379000-80412800	Weak transcription	Fetal Intestine Small	intestine
5	chr7:80394000-80410200	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr7:80394000-80417600	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr7:80394200-80410200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr7:80394200-80410200	Weak transcription	Brain Substantia Nigra	brain
9	chr7:80394600-80410200	Weak transcription	Adipose Nuclei	Adipose
10	chr7:80395800-80403000	Weak transcription	Pancreas	Pancrea
11	chr7:80396400-80402800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr7:80396600-80409800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr7:80396600-80410400	Weak transcription	Fetal Stomach	stomach
14	chr7:80396600-80410400	Weak transcription	Ovary	ovary
15	chr7:80396600-80419400	Weak transcription	Left Ventricle	heart
16	chr7:80398200-80402800	Weak transcription	Psoas Muscle	Psoas
17	chr7:80398200-80410000	Weak transcription	Fetal Brain Male	brain
18	chr7:80399000-80405800	Enhancers	Rectal Smooth Muscle	rectum
19	chr7:80399200-80403600	Genic enhancers	A549	lung
20	chr7:80399200-80403600	Strong transcription	HSMMtube	muscle
21	chr7:80399200-80403800	Strong transcription	HSMM	muscle
22	chr7:80399400-80403200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr7:80400000-80403000	Weak transcription	NHEK	skin
24	chr7:80400000-80403200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr7:80400000-80403400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr7:80400000-80404800	Weak transcription	Hela-S3	cervix
27	chr7:80400000-80410400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr7:80400200-80402800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr7:80400600-80402800	Weak transcription	HMEC	breast
30	chr7:80400600-80406200	Enhancers	Colon Smooth Muscle	Colon
31	chr7:80400600-80408400	Weak transcription	Fetal Muscle Trunk	muscle
32	chr7:80400800-80403600	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr7:80401000-80403000	Enhancers	Fetal Heart	heart
34	chr7:80401000-80404200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr7:80401000-80404200	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr7:80401200-80402800	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr7:80401200-80402800	Weak transcription	Osteobl	bone
38	chr7:80401200-80404400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr7:80401200-80404400	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr7:80401200-80405000	Strong transcription	NHDF-Ad	bronchial
41	chr7:80401200-80405200	Weak transcription	Duodenum Mucosa	Duodenum
42	chr7:80401200-80408000	Weak transcription	Fetal Muscle Leg	muscle
43	chr7:80401200-80410200	Weak transcription	NH-A	brain
44	chr7:80401200-80417600	Weak transcription	Fetal Intestine Large	intestine
45	chr7:80401400-80404800	Weak transcription	Primary monocytes fromperipheralblood	blood
46	chr7:80401800-80404800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr7:80401800-80405000	Weak transcription	Monocytes-CD14+_RO01746	blood
48	chr7:80402000-80402800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr7:80402000-80403600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr7:80402000-80405200	Weak transcription	Stomach Smooth Muscle	stomach

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