Variant report

Variant	rs7923295
Chromosome Location	chr10:116625159-116625160
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:116620510..116622671-chr10:116624179..116626213,2	K562	blood:

Variant related genes	Relation type
ENSG00000151553	Chromatin interaction

Extended variants
information (count: 128 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:123)

rs_ID	r²[population]
rs10444099	1.00[JPT][hapmap]
rs1045657	1.00[JPT][hapmap]
rs1046492	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.97[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10490908	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10490909	0.82[ASW][hapmap];0.82[YRI][hapmap]
rs10510007	0.92[CEU][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10885613	0.89[AFR][1000 genomes]
rs10885614	0.96[YRI][hapmap];0.92[AFR][1000 genomes]
rs10885633	1.00[JPT][hapmap]
rs10885634	1.00[JPT][hapmap]
rs10885636	1.00[JPT][hapmap]
rs10885638	1.00[JPT][hapmap]
rs10885639	1.00[JPT][hapmap]
rs11196924	0.90[ASW][hapmap]
rs11196929	0.83[AFR][1000 genomes]
rs11196930	0.89[AFR][1000 genomes]
rs11196932	0.89[AFR][1000 genomes]
rs11196935	0.84[AFR][1000 genomes]
rs11196936	0.89[AFR][1000 genomes]
rs11196937	0.89[AFR][1000 genomes]
rs11196939	1.00[ASW][hapmap];0.88[LWK][hapmap];0.90[MKK][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes]
rs11196941	0.87[AFR][1000 genomes]
rs11196943	0.86[AFR][1000 genomes]
rs11196944	0.88[AFR][1000 genomes]
rs11196945	0.96[YRI][hapmap];0.84[AFR][1000 genomes]
rs11196947	0.81[AFR][1000 genomes]
rs11196948	0.85[AFR][1000 genomes]
rs11196950	0.85[AFR][1000 genomes]
rs11196951	0.85[AFR][1000 genomes]
rs11196952	0.87[AFR][1000 genomes]
rs11196953	0.87[AFR][1000 genomes]
rs11196963	1.00[CHB][hapmap]
rs11196984	1.00[JPT][hapmap]
rs11196996	1.00[JPT][hapmap]
rs11196999	1.00[JPT][hapmap]
rs11197000	1.00[JPT][hapmap]
rs11197007	1.00[JPT][hapmap]
rs11197010	1.00[JPT][hapmap]
rs11197012	1.00[JPT][hapmap]
rs11818115	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12098332	1.00[JPT][hapmap]
rs12218498	0.88[AFR][1000 genomes]
rs12265048	1.00[JPT][hapmap]
rs12269261	1.00[JPT][hapmap]
rs12415173	0.92[AFR][1000 genomes]
rs12761122	1.00[JPT][hapmap]
rs12764662	1.00[JPT][hapmap]
rs12765350	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12771956	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12772800	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12773943	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12775180	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1359079	1.00[ASW][hapmap];0.88[LWK][hapmap];0.90[MKK][hapmap];0.96[YRI][hapmap];0.87[AFR][1000 genomes]
rs17092497	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17092542	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17586888	0.83[AFR][1000 genomes]
rs17663670	1.00[ASW][hapmap];0.88[LWK][hapmap];0.90[MKK][hapmap];0.96[YRI][hapmap];0.86[AFR][1000 genomes]
rs17721283	0.92[CEU][hapmap];1.00[CHB][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17721905	1.00[JPT][hapmap]
rs17794346	0.92[CEU][hapmap];1.00[CHB][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17795212	1.00[JPT][hapmap]
rs1966384	1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2105001	1.00[JPT][hapmap]
rs2146805	0.86[AFR][1000 genomes]
rs2146806	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2420065	0.89[AFR][1000 genomes]
rs2420066	0.89[AFR][1000 genomes]
rs2420067	1.00[ASW][hapmap];0.88[LWK][hapmap];0.90[MKK][hapmap];0.96[YRI][hapmap];0.87[AFR][1000 genomes]
rs2420069	1.00[ASW][hapmap];0.88[LWK][hapmap];0.90[MKK][hapmap];0.96[YRI][hapmap];0.87[AFR][1000 genomes]
rs3180654	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34064819	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34187191	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34683721	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35010779	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35622181	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35628210	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36036948	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36089581	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3758603	0.87[AFR][1000 genomes]
rs41284358	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55711292	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58587374	0.86[AFR][1000 genomes]
rs60820172	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61596353	0.85[AFR][1000 genomes]
rs61867965	0.88[AFR][1000 genomes]
rs61867966	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61867967	1.00[ASN][1000 genomes]
rs61868018	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6585309	1.00[JPT][hapmap]
rs6585310	1.00[JPT][hapmap]
rs6585311	1.00[JPT][hapmap]
rs68085797	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7071789	1.00[JPT][hapmap]
rs7071812	1.00[JPT][hapmap]
rs7072356	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7072364	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7074729	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7075888	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7079877	0.87[AFR][1000 genomes]
rs7089973	0.83[CEU][hapmap]
rs7093674	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7094072	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7099565	1.00[JPT][hapmap]
rs7099590	1.00[JPT][hapmap]
rs7100026	1.00[JPT][hapmap]
rs749649	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7895551	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7897937	0.96[YRI][hapmap];0.89[AFR][1000 genomes]
rs7898249	1.00[JPT][hapmap]
rs7903663	0.87[AFR][1000 genomes]
rs7904188	0.92[AFR][1000 genomes]
rs7904605	1.00[JPT][hapmap]
rs7908069	1.00[JPT][hapmap]
rs7908464	1.00[JPT][hapmap]
rs7909566	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7909657	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7914792	0.89[AFR][1000 genomes]
rs7918253	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7918388	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7919649	0.92[AFR][1000 genomes]
rs7920216	0.96[YRI][hapmap];0.92[AFR][1000 genomes]
rs8181444	0.89[AFR][1000 genomes]
rs881192	1.00[JPT][hapmap]

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	nsv949138	chr10:116311531-116874477	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1038050	chr10:116315109-116895719	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv533027	chr10:116344641-116856352	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	esv3435429	chr10:116394152-117006347	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv831996	chr10:116601552-116772968	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs7923295	DCP1A	cis	Brain Pons	GTEx
rs7923295	FAM160B1	cis	Adipose Subcutaneous	GTEx
rs7923295	ADRB1	cis	parietal	SCAN
rs7923295	TRUB1	cis	parietal	SCAN
rs7923295	TECTB	cis	cerebellum	SCAN
rs7923295	TRUB1	cis	cerebellum	SCAN

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:116589600-116626600	Weak transcription	Stomach Mucosa	stomach
2	chr10:116589600-116640600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr10:116590800-116625600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr10:116590800-116626400	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr10:116591000-116626600	Strong transcription	Primary neutrophils fromperipheralblood	blood
6	chr10:116592400-116625200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr10:116604800-116627200	Weak transcription	Small Intestine	intestine
8	chr10:116609600-116634800	Weak transcription	Spleen	Spleen
9	chr10:116609600-116639400	Weak transcription	Pancreas	Pancrea
10	chr10:116610200-116625400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr10:116610200-116625600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr10:116610200-116634600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr10:116610400-116628000	Weak transcription	Esophagus	oesophagus
14	chr10:116610600-116628000	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr10:116611600-116641000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr10:116612400-116625800	Weak transcription	Brain Cingulate Gyrus	brain
17	chr10:116612800-116625600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr10:116612800-116626600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr10:116613600-116625400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
20	chr10:116614000-116626200	Strong transcription	Primary hematopoietic stem cells	blood
21	chr10:116614400-116626200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr10:116614800-116628400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr10:116616800-116625400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr10:116616800-116625400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr10:116616800-116626400	Weak transcription	Brain Substantia Nigra	brain
26	chr10:116617000-116627400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr10:116617000-116630200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr10:116617400-116640600	Weak transcription	Fetal Intestine Small	intestine
29	chr10:116617600-116625600	Strong transcription	Adipose Nuclei	Adipose
30	chr10:116617800-116626000	Strong transcription	HSMM	muscle
31	chr10:116617800-116626400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr10:116618000-116626400	Strong transcription	Muscle Satellite Cultured Cells	--
33	chr10:116618200-116626000	Strong transcription	Osteobl	bone
34	chr10:116619000-116625400	Strong transcription	Fetal Lung	lung
35	chr10:116619200-116625600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr10:116619400-116626200	Weak transcription	Psoas Muscle	Psoas
37	chr10:116619400-116627200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr10:116619400-116627400	Weak transcription	Lung	lung
39	chr10:116619400-116634400	Weak transcription	Fetal Brain Male	brain
40	chr10:116619400-116636000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr10:116619400-116636400	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr10:116619400-116641600	Weak transcription	Aorta	Aorta
43	chr10:116619600-116627000	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr10:116619800-116625400	Strong transcription	Liver	Liver
45	chr10:116619800-116629400	Weak transcription	Colon Smooth Muscle	Colon
46	chr10:116619800-116634800	Weak transcription	Fetal Brain Female	brain
47	chr10:116620400-116625400	Strong transcription	Rectal Mucosa Donor 31	rectum
48	chr10:116620600-116635000	Weak transcription	Fetal Stomach	stomach
49	chr10:116621200-116629800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr10:116621400-116626400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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