Variant report

Variant	rs62642552
Chromosome Location	chr12:32797530-32797531
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	chr12:32792047..32794704-chr12:32795813..32797646,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs61926163	0.81[EUR][1000 genomes]
rs61926164	0.81[EUR][1000 genomes]
rs61926168	0.81[EUR][1000 genomes]
rs61926169	0.81[EUR][1000 genomes]
rs61926170	0.81[EUR][1000 genomes]
rs61926171	0.81[EUR][1000 genomes]
rs61926172	0.81[EUR][1000 genomes]
rs61926173	0.81[EUR][1000 genomes]
rs61926174	0.81[EUR][1000 genomes]
rs61926176	1.00[EUR][1000 genomes]
rs61926186	1.00[EUR][1000 genomes]
rs61926187	1.00[EUR][1000 genomes]
rs61926188	1.00[EUR][1000 genomes]
rs61926189	1.00[EUR][1000 genomes]
rs61926190	1.00[EUR][1000 genomes]
rs61926191	1.00[EUR][1000 genomes]
rs61926192	1.00[EUR][1000 genomes]
rs61926193	1.00[EUR][1000 genomes]
rs61926194	1.00[EUR][1000 genomes]
rs61926195	1.00[EUR][1000 genomes]
rs74072673	0.81[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	nsv1047658	chr12:32792554-32835646	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv541457	chr12:32792554-32835646	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32744200-32797600	Weak transcription	Fetal Heart	heart
2	chr12:32755400-32800600	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr12:32757400-32799600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr12:32757600-32798000	Strong transcription	HUES48 Cell Line	embryonic stem cell
5	chr12:32757800-32797800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr12:32758400-32799400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
7	chr12:32758600-32797800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr12:32758600-32799600	Strong transcription	Liver	Liver
9	chr12:32758600-32800400	Strong transcription	HSMM	muscle
10	chr12:32758800-32799600	Strong transcription	HUES64 Cell Line	embryonic stem cell
11	chr12:32762800-32799600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr12:32768400-32799800	Weak transcription	NHDF-Ad	bronchial
13	chr12:32772600-32800000	Strong transcription	Muscle Satellite Cultured Cells	--
14	chr12:32776600-32798400	Strong transcription	Cortex derived primary cultured neurospheres	brain
15	chr12:32777000-32800200	Strong transcription	Primary neutrophils fromperipheralblood	blood
16	chr12:32778800-32800400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr12:32779600-32800400	Weak transcription	Small Intestine	intestine
18	chr12:32782000-32810600	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr12:32784200-32799600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr12:32785800-32799800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr12:32789000-32798000	Strong transcription	Duodenum Mucosa	Duodenum
22	chr12:32790400-32798000	Strong transcription	Rectal Mucosa Donor 31	rectum
23	chr12:32790600-32799800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr12:32790800-32798000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
25	chr12:32790800-32799600	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr12:32791200-32800200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr12:32791800-32797600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr12:32793400-32797600	Weak transcription	Brain Germinal Matrix	brain
29	chr12:32793600-32798000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr12:32793600-32798200	Weak transcription	Fetal Stomach	stomach
31	chr12:32793600-32799000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr12:32793600-32799200	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr12:32793600-32800000	Weak transcription	Esophagus	oesophagus
34	chr12:32793600-32800400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr12:32793600-32800400	Weak transcription	Gastric	stomach
36	chr12:32793600-32800600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr12:32793600-32800600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr12:32793600-32800800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr12:32793600-32800800	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr12:32793600-32800800	Weak transcription	Spleen	Spleen
41	chr12:32793600-32801200	Weak transcription	Pancreas	Pancrea
42	chr12:32793600-32801400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr12:32793600-32801400	Weak transcription	Fetal Intestine Small	intestine
44	chr12:32793600-32802600	Weak transcription	Right Ventricle	heart
45	chr12:32793600-32802800	Weak transcription	Lung	lung
46	chr12:32793600-32804400	Weak transcription	Stomach Mucosa	stomach
47	chr12:32793600-32810400	Weak transcription	Fetal Muscle Leg	muscle
48	chr12:32793600-32810800	Weak transcription	Ovary	ovary
49	chr12:32793600-32812800	Weak transcription	Aorta	Aorta
50	chr12:32793600-32813000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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