Variant report

Variant	rs11187893
Chromosome Location	chr10:96105979-96105980
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	chr10:96102107..96103794-chr10:96104177..96107065,2	K562	blood:
2	chr10:96104715..96106425-chr10:96121151..96123916,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000173145	Chromatin interaction

Extended variants
information (count: 79 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs10509670	0.93[MEX][hapmap]
rs10509671	0.81[CEU][hapmap];0.86[CHB][hapmap];0.92[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.82[TSI][hapmap];0.90[ASN][1000 genomes]
rs10786161	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10882416	0.88[TSI][hapmap];0.82[EUR][1000 genomes]
rs10882422	0.93[MEX][hapmap];0.80[TSI][hapmap]
rs10882424	0.81[CEU][hapmap];0.82[GIH][hapmap];0.93[MEX][hapmap];0.93[TSI][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10882430	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10882435	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10882436	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10882437	0.81[CEU][hapmap];0.82[GIH][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11187837	0.86[CHB][hapmap];0.80[CHD][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs11187840	0.89[ASN][1000 genomes]
rs11187842	0.86[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs11187845	0.85[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs11187847	0.86[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs11187850	0.93[MEX][hapmap]
rs11187851	0.81[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs11187852	0.86[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs11187853	0.84[EUR][1000 genomes]
rs11187856	0.86[ASN][1000 genomes]
rs11187863	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs11187864	1.00[CHB][hapmap];0.90[JPT][hapmap];0.96[ASN][1000 genomes]
rs11187866	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs11187869	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11187870	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs11187876	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11187877	0.99[ASN][1000 genomes]
rs11187881	0.81[CEU][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11187882	0.96[ASN][1000 genomes]
rs11187883	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs11187890	0.99[ASN][1000 genomes]
rs11187894	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11187895	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs11187897	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs11187899	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11187900	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11187901	0.81[CEU][hapmap];0.82[GIH][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11558740	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12217597	0.89[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12217792	0.86[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs12219063	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12220091	0.89[ASN][1000 genomes]
rs12220125	0.81[CEU][hapmap];0.84[EUR][1000 genomes]
rs12263737	0.93[MEX][hapmap];0.88[TSI][hapmap];0.82[EUR][1000 genomes]
rs12773229	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12780491	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12781451	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17109875	0.86[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs2274223	0.93[MEX][hapmap]
rs3740359	1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs3740360	0.85[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs3740365	0.86[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs3765524	0.81[CEU][hapmap];0.93[MEX][hapmap];0.88[TSI][hapmap];0.83[EUR][1000 genomes]
rs3781264	0.81[CEU][hapmap];0.86[CHB][hapmap];0.96[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.86[TSI][hapmap];0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs3781266	0.86[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs3818432	0.81[CEU][hapmap];0.93[MEX][hapmap];0.88[TSI][hapmap];0.83[EUR][1000 genomes]
rs6583935	0.82[JPT][hapmap]
rs6583937	0.81[CEU][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7074125	0.86[EUR][1000 genomes]
rs7077192	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7081265	0.95[CEU][hapmap];0.93[MEX][hapmap];0.93[TSI][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7084339	0.93[MEX][hapmap]
rs7084988	0.81[CEU][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7085378	0.81[CEU][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7092226	0.93[MEX][hapmap]
rs7094783	0.84[EUR][1000 genomes]
rs7096037	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7096678	0.90[ASN][1000 genomes]
rs7096883	0.89[ASN][1000 genomes]
rs7100430	0.80[CEU][hapmap];0.82[GIH][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7100626	0.89[ASN][1000 genomes]
rs7100870	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs752140	0.89[ASN][1000 genomes]
rs753724	0.86[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs7908638	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2761616	chr10:95966768-96303701	Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv831946	chr10:96055190-96226438	Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv497859	chr10:96058024-97027747	Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	esv1819509	chr10:96064300-96361776	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11187893	NOC3L	cis	parietal	SCAN
rs11187893	NOC3L	cis	Heart Left Ventricle	GTEx

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:96031800-96121000	Weak transcription	Stomach Mucosa	stomach
2	chr10:96043600-96121000	Weak transcription	Psoas Muscle	Psoas
3	chr10:96075200-96112200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr10:96078200-96121600	Weak transcription	Fetal Brain Male	brain
5	chr10:96080400-96121000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr10:96081000-96118200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr10:96081200-96118400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
8	chr10:96081600-96117400	Strong transcription	NH-A	brain
9	chr10:96081600-96121000	Strong transcription	HUES6 Cell Line	embryonic stem cell
10	chr10:96081600-96121000	Strong transcription	HUES64 Cell Line	embryonic stem cell
11	chr10:96081800-96117400	Strong transcription	HSMM	muscle
12	chr10:96081800-96121000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr10:96081800-96121000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr10:96082000-96118400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr10:96082200-96113000	Weak transcription	Esophagus	oesophagus
16	chr10:96082400-96121000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
17	chr10:96082600-96109600	Weak transcription	Spleen	Spleen
18	chr10:96083000-96119800	Strong transcription	Primary T helper cells PMA-I stimulated	--
19	chr10:96083200-96118800	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr10:96084400-96118200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr10:96085000-96121000	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr10:96085000-96122200	Weak transcription	Gastric	stomach
23	chr10:96085400-96109000	Weak transcription	Ovary	ovary
24	chr10:96086200-96121200	Strong transcription	HUES48 Cell Line	embryonic stem cell
25	chr10:96087600-96118600	Strong transcription	Primary T cells fromperipheralblood	blood
26	chr10:96087600-96121200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr10:96088000-96118000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr10:96088200-96121800	Weak transcription	Aorta	Aorta
29	chr10:96088800-96108000	Weak transcription	Primary neutrophils fromperipheralblood	blood
30	chr10:96089000-96106600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr10:96089000-96120600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr10:96089200-96119800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr10:96089600-96121000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
34	chr10:96089800-96107000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr10:96089800-96107200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
36	chr10:96089800-96117600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr10:96089800-96119000	Strong transcription	Primary T helper cells fromperipheralblood	blood
38	chr10:96089800-96119400	Strong transcription	H1 Cell Line	embryonic stem cell
39	chr10:96089800-96119400	Strong transcription	Primary monocytes fromperipheralblood	blood
40	chr10:96090000-96106800	Strong transcription	Adipose Nuclei	Adipose
41	chr10:96090200-96108600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr10:96090400-96106000	Strong transcription	Osteobl	bone
43	chr10:96090400-96121000	Weak transcription	Fetal Heart	heart
44	chr10:96091000-96119800	Strong transcription	Liver	Liver
45	chr10:96091200-96107000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr10:96092600-96115600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
47	chr10:96096200-96112000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr10:96096200-96121000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr10:96096400-96111000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr10:96096400-96117800	Strong transcription	HMEC	breast

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