Variant report

Variant	rs12430585
Chromosome Location	chr13:30774698-30774699
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	chr13:30774269..30777021-chr13:30777497..30779135,2	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10492463	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12428633	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs12430537	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs58258681	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61946914	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61946915	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61946916	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61946917	0.81[EUR][1000 genomes]
rs61946918	0.81[EUR][1000 genomes]
rs61946921	0.81[EUR][1000 genomes]
rs61946922	0.81[EUR][1000 genomes]
rs9888460	1.00[CHB][hapmap];1.00[JPT][hapmap]

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	nsv832572	chr13:30650005-30835256	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30754000-30798800	Weak transcription	Brain Anterior Caudate	brain
2	chr13:30760800-30781800	Weak transcription	Stomach Smooth Muscle	stomach
3	chr13:30761600-30792800	Weak transcription	Fetal Brain Male	brain
4	chr13:30763400-30781600	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr13:30763600-30786400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr13:30763800-30778800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr13:30764000-30775400	Weak transcription	Adipose Nuclei	Adipose
8	chr13:30764600-30790200	Weak transcription	Colon Smooth Muscle	Colon
9	chr13:30765600-30807000	Weak transcription	Gastric	stomach
10	chr13:30766000-30781800	Weak transcription	NH-A	brain
11	chr13:30766000-30783400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr13:30766200-30775600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr13:30766200-30778800	Weak transcription	Osteobl	bone
14	chr13:30766200-30779400	Weak transcription	NHLF	lung
15	chr13:30766200-30790400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr13:30766400-30804400	Weak transcription	Duodenum Mucosa	Duodenum
17	chr13:30767600-30778600	Weak transcription	Fetal Intestine Small	intestine
18	chr13:30767800-30775400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr13:30768000-30795000	Weak transcription	Brain Germinal Matrix	brain
20	chr13:30768200-30781600	Weak transcription	Fetal Muscle Leg	muscle
21	chr13:30768600-30792600	Weak transcription	Spleen	Spleen
22	chr13:30768600-30798800	Weak transcription	HMEC	breast
23	chr13:30769000-30796400	Weak transcription	A549	lung
24	chr13:30769800-30776600	Weak transcription	Thymus	Thymus
25	chr13:30769800-30781400	Weak transcription	HUVEC	blood vessel
26	chr13:30769800-30790400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr13:30770000-30775400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr13:30770000-30778600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr13:30770000-30790400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr13:30770000-30790400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr13:30770000-30799200	Weak transcription	HSMMtube	muscle
32	chr13:30770200-30775400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr13:30770400-30776400	Weak transcription	NHDF-Ad	bronchial
34	chr13:30770400-30781400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr13:30770400-30784400	Weak transcription	Psoas Muscle	Psoas
36	chr13:30770400-30786400	Weak transcription	Fetal Brain Female	brain
37	chr13:30770400-30790400	Weak transcription	Fetal Muscle Trunk	muscle
38	chr13:30770600-30775600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr13:30770600-30776600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr13:30770600-30778800	Weak transcription	HSMM	muscle
41	chr13:30770600-30779400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr13:30770600-30781400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr13:30770600-30782000	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr13:30770600-30786000	Weak transcription	Fetal Stomach	stomach
45	chr13:30770600-30786400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr13:30770600-30790400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr13:30770600-30796200	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr13:30770600-30803200	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr13:30770800-30781400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr13:30771000-30775600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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