Variant report

Variant	rs10506086
Chromosome Location	chr12:32642659-32642660
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10506085	0.84[ASW][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs10506090	0.86[CHB][hapmap]
rs10506093	1.00[CHB][hapmap]
rs10844226	1.00[CHB][hapmap]
rs10844227	1.00[CHB][hapmap]
rs10844228	0.86[CHB][hapmap]
rs10844234	1.00[CHB][hapmap]
rs11052042	1.00[CHB][hapmap]
rs11608343	0.86[CHB][hapmap]
rs11615039	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1500875	0.86[CHB][hapmap]
rs16919821	0.85[YRI][hapmap]
rs17536329	0.97[AFR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17536908	0.86[CHB][hapmap]
rs2133944	0.86[CHB][hapmap]
rs4105685	1.00[CHB][hapmap]
rs4520681	1.00[CHB][hapmap]
rs7958829	0.82[AFR][1000 genomes]
rs7967702	1.00[CHB][hapmap]
rs7970857	1.00[CHB][hapmap]
rs7977101	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531960	chr12:32257285-32775277	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	esv2751096	chr12:32280340-32702784	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv1054191	chr12:32534619-32733066	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv541455	chr12:32534619-32733066	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	esv3342938	chr12:32551041-32716745	Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv898970	chr12:32622097-32680236	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	esv1795417	chr12:32635183-32648257	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Strong transcription	TF binding region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10506086	NRK	trans	parietal	SCAN

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32594600-32659000	Weak transcription	Esophagus	oesophagus
2	chr12:32621800-32654000	Weak transcription	Lung	lung
3	chr12:32625000-32655800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr12:32625200-32655200	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr12:32629400-32643600	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr12:32629600-32643000	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr12:32631800-32643600	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr12:32632000-32643600	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr12:32634000-32655000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr12:32636800-32644200	Weak transcription	Right Ventricle	heart
11	chr12:32636800-32646000	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr12:32636800-32650800	Weak transcription	Fetal Muscle Leg	muscle
13	chr12:32637000-32643800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr12:32637200-32646000	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr12:32637400-32643600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr12:32637600-32643800	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr12:32639000-32655000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr12:32639200-32643800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr12:32639400-32644200	Weak transcription	Duodenum Mucosa	Duodenum
20	chr12:32639400-32647600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr12:32639400-32653800	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr12:32639400-32653800	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr12:32639400-32653800	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr12:32639600-32644200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr12:32639600-32644200	Enhancers	HUVEC	blood vessel
26	chr12:32639600-32646400	Weak transcription	Fetal Intestine Large	intestine
27	chr12:32639800-32643000	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr12:32639800-32643600	Weak transcription	Stomach Mucosa	stomach
29	chr12:32640000-32647400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr12:32640200-32651000	Weak transcription	Primary hematopoietic stem cells	blood
31	chr12:32640800-32645800	Weak transcription	Left Ventricle	heart
32	chr12:32640800-32646200	Weak transcription	Gastric	stomach
33	chr12:32640800-32646200	Weak transcription	Pancreas	Pancrea
34	chr12:32640800-32646200	Weak transcription	Psoas Muscle	Psoas
35	chr12:32640800-32647600	Weak transcription	Right Atrium	heart
36	chr12:32641000-32647600	Enhancers	Primary neutrophils fromperipheralblood	blood
37	chr12:32641000-32651000	Weak transcription	Fetal Intestine Small	intestine
38	chr12:32641200-32644600	Weak transcription	Brain Hippocampus Middle	brain
39	chr12:32641200-32653800	Weak transcription	Brain Cingulate Gyrus	brain
40	chr12:32642000-32643800	Weak transcription	Liver	Liver
41	chr12:32642000-32647200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr12:32642200-32646200	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr12:32642200-32646600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr12:32642400-32643600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr12:32642400-32644800	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr12:32642600-32643400	Weak transcription	Primary monocytes fromperipheralblood	blood
47	chr12:32642600-32643600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr12:32642600-32643600	Enhancers	Monocytes-CD14+_RO01746	blood

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