Variant report

Variant	rs12594858
Chromosome Location	chr15:42939916-42939917
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	chr15:42939910..42942144-chr15:42944269..42945815,2	K562	blood:

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

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

rs_ID	r²[population]
rs10438302	1.00[EUR][1000 genomes]
rs11070381	1.00[EUR][1000 genomes]
rs12324838	1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs16957224	1.00[EUR][1000 genomes]
rs28508072	0.89[ASN][1000 genomes]
rs28736688	0.93[ASN][1000 genomes]
rs3099758	1.00[YRI][hapmap]
rs58506324	1.00[EUR][1000 genomes]
rs58754188	1.00[EUR][1000 genomes]
rs58756153	1.00[EUR][1000 genomes]
rs60753136	1.00[EUR][1000 genomes]
rs623271	0.82[YRI][hapmap]
rs6493056	1.00[JPT][hapmap]
rs7177501	1.00[EUR][1000 genomes]
rs7178483	0.94[ASN][1000 genomes]
rs73408619	0.93[ASN][1000 genomes]
rs8023743	1.00[CHB][hapmap];0.82[JPT][hapmap];0.94[ASN][1000 genomes]
rs8039438	1.00[EUR][1000 genomes]
rs8039881	0.84[ASN][1000 genomes]
rs8043143	1.00[CHB][hapmap];0.94[ASN][1000 genomes]
rs9944270	0.93[ASN][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	nsv528725	chr15:42755555-43104406	Weak transcription Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv427959	chr15:42931181-43207353	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:42898000-42967800	Weak transcription	Fetal Intestine Small	intestine
2	chr15:42908800-43015000	Weak transcription	Fetal Kidney	kidney
3	chr15:42909600-42966400	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr15:42915200-42940000	Weak transcription	HepG2	liver
5	chr15:42923000-42958200	Weak transcription	Hela-S3	cervix
6	chr15:42924400-42944600	Weak transcription	Thymus	Thymus
7	chr15:42925200-42966000	Weak transcription	NH-A	brain
8	chr15:42925200-42966800	Weak transcription	NHLF	lung
9	chr15:42925600-42961000	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr15:42926400-42947200	Weak transcription	Fetal Brain Male	brain
11	chr15:42928200-42973600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr15:42928200-42974000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr15:42929600-42942200	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr15:42930600-42964000	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr15:42930800-42957400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr15:42931000-42942400	Weak transcription	HMEC	breast
17	chr15:42931200-42949800	Weak transcription	Fetal Heart	heart
18	chr15:42931200-42954600	Weak transcription	Placenta	Placenta
19	chr15:42931200-42963400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr15:42931400-42942400	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr15:42931400-42944600	Weak transcription	NHDF-Ad	bronchial
22	chr15:42931400-42955800	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr15:42931600-42942400	Weak transcription	Brain Substantia Nigra	brain
24	chr15:42931600-42942600	Weak transcription	Spleen	Spleen
25	chr15:42931600-42944000	Weak transcription	Left Ventricle	heart
26	chr15:42931600-42948800	Weak transcription	Brain Anterior Caudate	brain
27	chr15:42931600-42953600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr15:42931600-42955400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr15:42931800-42942200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr15:42931800-42955000	Weak transcription	Fetal Lung	lung
31	chr15:42931800-42955000	Weak transcription	Rectal Smooth Muscle	rectum
32	chr15:42931800-42955600	Weak transcription	Lung	lung
33	chr15:42931800-42957200	Weak transcription	Primary B cells from cord blood	blood
34	chr15:42931800-42958200	Weak transcription	Brain Angular Gyrus	brain
35	chr15:42931800-42968000	Weak transcription	HSMM	muscle
36	chr15:42932000-42944600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr15:42932000-42944600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr15:42932000-42944600	Weak transcription	Adipose Nuclei	Adipose
39	chr15:42932000-42958400	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr15:42932200-42944600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr15:42932200-42966200	Weak transcription	Primary B cells from peripheral blood	blood
42	chr15:42932400-42942400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr15:42932400-42942600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr15:42932400-42943800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr15:42932400-42960000	Weak transcription	Primary T cells from cord blood	blood
46	chr15:42932600-42944400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr15:42932600-42944600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr15:42932600-42953200	Weak transcription	Fetal Intestine Large	intestine
49	chr15:42932600-42955400	Weak transcription	Aorta	Aorta
50	chr15:42932800-42942600	Weak transcription	Brain Inferior Temporal Lobe	brain

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