Variant report

Variant	rs59175606
Chromosome Location	chr12:29718489-29718490
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	chr12:29713988..29716071-chr12:29717724..29720269,2	K562	blood:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs7310346	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7957216	0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053641	chr12:29268813-29854413	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv469190	chr12:29612425-29811471	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv557917	chr12:29612425-29811471	Enhancers Weak transcription Genic enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv1053629	chr12:29680163-29826626	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	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

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29665400-29725400	Weak transcription	Brain Cingulate Gyrus	brain
2	chr12:29700400-29719000	Weak transcription	Fetal Muscle Trunk	muscle
3	chr12:29700400-29734000	Weak transcription	Brain Anterior Caudate	brain
4	chr12:29709800-29756200	Weak transcription	HMEC	breast
5	chr12:29711800-29720800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
6	chr12:29712600-29722200	Weak transcription	Colonic Mucosa	Colon
7	chr12:29712600-29734600	Weak transcription	Liver	Liver
8	chr12:29712800-29722200	Weak transcription	Brain Germinal Matrix	brain
9	chr12:29713200-29719800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr12:29713200-29719800	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr12:29713200-29726400	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr12:29713200-29726600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr12:29713200-29731200	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr12:29713200-29742600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr12:29715400-29721400	Weak transcription	Esophagus	oesophagus
16	chr12:29715400-29722200	Weak transcription	Fetal Lung	lung
17	chr12:29715400-29731200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr12:29715800-29719000	Weak transcription	NH-A	brain
19	chr12:29715800-29724800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr12:29716200-29719400	Weak transcription	Osteobl	bone
21	chr12:29716200-29764800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr12:29716400-29721000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr12:29716400-29722200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr12:29716600-29719000	Weak transcription	Right Ventricle	heart
25	chr12:29716600-29719400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr12:29716600-29719400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr12:29716600-29719600	Weak transcription	NHDF-Ad	bronchial
28	chr12:29717000-29720000	Weak transcription	Right Atrium	heart
29	chr12:29717000-29721800	Weak transcription	HUVEC	blood vessel
30	chr12:29717200-29719000	Weak transcription	Fetal Stomach	stomach
31	chr12:29717400-29718600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr12:29717400-29719000	Weak transcription	Stomach Smooth Muscle	stomach
33	chr12:29717400-29719200	Strong transcription	Muscle Satellite Cultured Cells	--
34	chr12:29717400-29719200	Weak transcription	Adipose Nuclei	Adipose
35	chr12:29717400-29719200	Weak transcription	Fetal Muscle Leg	muscle
36	chr12:29717400-29719400	Weak transcription	Fetal Kidney	kidney
37	chr12:29717400-29719400	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr12:29717400-29720400	Weak transcription	Fetal Heart	heart
39	chr12:29717400-29722200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr12:29717600-29718600	Weak transcription	Spleen	Spleen
41	chr12:29717600-29719000	Weak transcription	Left Ventricle	heart
42	chr12:29717600-29719000	Weak transcription	Lung	lung
43	chr12:29717600-29719000	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr12:29717600-29719200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr12:29717600-29721600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr12:29717600-29721600	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr12:29717600-29725000	Weak transcription	Aorta	Aorta
48	chr12:29717600-29727400	Weak transcription	Monocytes-CD14+_RO01746	blood
49	chr12:29717600-29727800	Weak transcription	Duodenum Mucosa	Duodenum
50	chr12:29717600-29734800	Weak transcription	NHLF	lung

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