Variant report

Variant	rs10787293
Chromosome Location	chr10:112733085-112733086
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	chr10:112728533..112731147-chr10:112731609..112733166,2	K562	blood:
2	chr10:112725818..112728345-chr10:112732470..112734478,2	K562	blood:

Extended variants
information (count: 62 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10082499	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10787286	1.00[ASW][hapmap];0.80[CEU][hapmap];1.00[GIH][hapmap];0.85[LWK][hapmap];0.86[MEX][hapmap];0.91[MKK][hapmap];0.87[TSI][hapmap];0.86[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs10787291	1.00[ASW][hapmap];0.90[CEU][hapmap];1.00[GIH][hapmap];0.86[MEX][hapmap];0.94[TSI][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10787299	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10885059	1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10885060	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10885061	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10885064	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10885071	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10885073	0.86[AFR][1000 genomes]
rs10885075	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs10885076	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[JPT][hapmap];0.88[MEX][hapmap];0.94[TSI][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11195381	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11195387	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11195390	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11195391	0.86[AFR][1000 genomes]
rs11195398	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12240685	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12242177	0.97[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12242928	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12246561	0.87[ASW][hapmap];0.81[CHD][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];0.94[MKK][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs12249031	0.94[AFR][1000 genomes]
rs12253351	0.86[AFR][1000 genomes]
rs12261765	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12776359	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12776861	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1571239	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs17186196	0.89[AFR][1000 genomes]
rs2146544	1.00[GIH][hapmap];0.82[YRI][hapmap]
rs34401279	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs34893229	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35394459	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs35793075	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35946882	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs3750619	0.87[ASW][hapmap];0.90[CEU][hapmap];1.00[GIH][hapmap];0.85[LWK][hapmap];0.86[MEX][hapmap];0.97[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3763692	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4917591	0.80[EUR][1000 genomes]
rs61864641	0.89[AFR][1000 genomes]
rs6421360	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs6585026	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.94[TSI][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7070962	0.90[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7074629	0.94[AFR][1000 genomes]
rs7074653	0.83[AFR][1000 genomes]
rs7075507	0.90[ASN][1000 genomes]
rs7089069	0.83[AFR][1000 genomes]
rs7089193	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs7089615	0.97[ASN][1000 genomes]
rs7089687	1.00[ASW][hapmap];0.80[CEU][hapmap];0.82[TSI][hapmap];0.82[YRI][hapmap];0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7096359	0.87[ASW][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];0.89[MKK][hapmap];0.82[YRI][hapmap];0.94[AFR][1000 genomes]
rs7919142	1.00[GIH][hapmap]
rs7922142	0.82[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs9663346	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035602	chr10:112636053-112781413	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv1051327	chr10:112650316-112772917	ZNF genes & repeats Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv540774	chr10:112650316-112772917	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv831985	chr10:112652089-112803103	Enhancers Flanking Active TSS Weak transcription Strong transcription 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 miRNA target site	28 gene(s)	inside rSNPs	diseases
5	nsv1048809	chr10:112683822-112781413	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
6	nsv1042020	chr10:112686323-112795159	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
7	nsv1035422	chr10:112724159-112764594	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA	3 gene(s)	inside rSNPs	diseases
8	nsv1048444	chr10:112724159-112795159	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
9	nsv1036202	chr10:112726834-112781413	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
10	nsv1051595	chr10:112730022-112789048	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10787293	LOC92482	Cis_1M	lymphoblastoid	RTeQTL
rs10787293	HABP2	cis	parietal	SCAN

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:112697200-112740200	Weak transcription	Thymus	Thymus
2	chr10:112697200-112745400	Weak transcription	Duodenum Mucosa	Duodenum
3	chr10:112700600-112764000	Weak transcription	Placenta	Placenta
4	chr10:112702400-112754800	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr10:112705200-112789800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr10:112707200-112737600	Weak transcription	Psoas Muscle	Psoas
7	chr10:112707200-112738800	Weak transcription	NH-A	brain
8	chr10:112707200-112755000	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr10:112707200-112784200	Weak transcription	Left Ventricle	heart
10	chr10:112709000-112760000	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr10:112710000-112736400	Weak transcription	HSMM	muscle
12	chr10:112711800-112735600	Weak transcription	Fetal Intestine Small	intestine
13	chr10:112712600-112737200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr10:112712600-112737600	Weak transcription	HSMMtube	muscle
15	chr10:112712600-112737800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr10:112712600-112751200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr10:112712600-112755000	Weak transcription	Fetal Thymus	thymus
18	chr10:112712800-112736600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr10:112712800-112738000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr10:112712800-112751600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr10:112719400-112760800	Weak transcription	Fetal Muscle Leg	muscle
22	chr10:112719800-112735800	Weak transcription	Fetal Stomach	stomach
23	chr10:112719800-112737600	Weak transcription	Rectal Smooth Muscle	rectum
24	chr10:112719800-112759200	Weak transcription	Fetal Lung	lung
25	chr10:112720800-112737600	Weak transcription	Ovary	ovary
26	chr10:112721600-112737600	Weak transcription	Fetal Heart	heart
27	chr10:112722800-112736600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr10:112723200-112783000	Weak transcription	Small Intestine	intestine
29	chr10:112724400-112737000	Weak transcription	Right Atrium	heart
30	chr10:112724400-112737800	Weak transcription	Stomach Mucosa	stomach
31	chr10:112724600-112748600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr10:112724800-112738200	Weak transcription	Primary T cells from cord blood	blood
33	chr10:112724800-112739600	Weak transcription	Aorta	Aorta
34	chr10:112724800-112746600	Weak transcription	Primary monocytes fromperipheralblood	blood
35	chr10:112724800-112760200	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr10:112725000-112737200	Weak transcription	Primary hematopoietic stem cells	blood
37	chr10:112725400-112737600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr10:112726600-112764000	Weak transcription	HUVEC	blood vessel
39	chr10:112727000-112737800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr10:112727200-112737400	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr10:112727200-112740600	Weak transcription	Dnd41	blood
42	chr10:112727400-112745400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr10:112727400-112764400	Weak transcription	Adipose Nuclei	Adipose
44	chr10:112727600-112748800	Weak transcription	NHDF-Ad	bronchial
45	chr10:112727800-112737600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr10:112727800-112739400	Weak transcription	Monocytes-CD14+_RO01746	blood
47	chr10:112728000-112738800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr10:112728200-112737600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr10:112728200-112748400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr10:112729200-112737400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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