Variant report

Variant	rs74082523
Chromosome Location	chr12:29921414-29921415
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:29918838..29921011-chr12:29921108..29922618,2	MCF-7	breast:
2	chr12:29914558..29917139-chr12:29921066..29923083,2	MCF-7	breast:
3	chr12:29920312..29922564-chr12:29924302..29925807,2	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12299429	1.00[EUR][1000 genomes]
rs12305402	1.00[EUR][1000 genomes]
rs12310026	1.00[EUR][1000 genomes]
rs59384688	1.00[EUR][1000 genomes]
rs73265828	1.00[EUR][1000 genomes]
rs73279092	1.00[EUR][1000 genomes]
rs73281235	1.00[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	nsv529328	chr12:29692414-30246209	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv898953	chr12:29905322-29989292	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29904200-29928600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr12:29904600-29927800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:29904800-29924200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr12:29906600-29928400	Weak transcription	Fetal Muscle Trunk	muscle
5	chr12:29908800-29925000	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr12:29911800-29922200	Weak transcription	Ovary	ovary
7	chr12:29912800-29924000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr12:29916000-29921800	Weak transcription	HSMMtube	muscle
9	chr12:29916000-29922400	Weak transcription	Esophagus	oesophagus
10	chr12:29916000-29931400	Weak transcription	Pancreas	Pancrea
11	chr12:29916200-29922400	Weak transcription	Lung	lung
12	chr12:29916400-29921800	Weak transcription	Brain Anterior Caudate	brain
13	chr12:29916600-29923000	Weak transcription	Liver	Liver
14	chr12:29916800-29921600	Weak transcription	Fetal Heart	heart
15	chr12:29916800-29922000	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr12:29916800-29922200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr12:29916800-29924400	Weak transcription	Brain Cingulate Gyrus	brain
18	chr12:29916800-29925400	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr12:29917000-29922000	Weak transcription	Brain Hippocampus Middle	brain
20	chr12:29917000-29922200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr12:29917000-29922200	Weak transcription	Spleen	Spleen
22	chr12:29917000-29924600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr12:29917000-29926000	Weak transcription	Right Ventricle	heart
24	chr12:29918000-29924800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr12:29918600-29922200	Weak transcription	Small Intestine	intestine
26	chr12:29919600-29921800	Weak transcription	HSMM	muscle
27	chr12:29919600-29924400	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr12:29919800-29921800	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr12:29919800-29922200	Weak transcription	Left Ventricle	heart
30	chr12:29919800-29922400	Weak transcription	Aorta	Aorta
31	chr12:29919800-29924400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr12:29919800-29924600	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr12:29919800-29924600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr12:29919800-29926000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr12:29919800-29927600	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr12:29920200-29922800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr12:29920200-29922800	Enhancers	Primary monocytes fromperipheralblood	blood
38	chr12:29920400-29928400	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr12:29920800-29921800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr12:29920800-29922600	Enhancers	Fetal Lung	lung
41	chr12:29920800-29922800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr12:29920800-29923600	Enhancers	Muscle Satellite Cultured Cells	--
43	chr12:29921000-29922200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr12:29921200-29921600	Enhancers	Fetal Kidney	kidney
45	chr12:29921200-29921800	Enhancers	Fetal Muscle Leg	muscle
46	chr12:29921200-29921800	Enhancers	Sigmoid Colon	Sigmoid Colon
47	chr12:29921200-29922800	Enhancers	Adipose Nuclei	Adipose
48	chr12:29921200-29922800	Enhancers	NHDF-Ad	bronchial
49	chr12:29921200-29926600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr12:29921400-29921600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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