Variant report

Variant	rs2149632
Chromosome Location	chr10:94232247-94232248
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:94231625..94235383-chr10:94350163..94352674,3	MCF-7	breast:

Extended variants
information (count: 38 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10509645	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10786048	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10882067	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10882071	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10882072	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10882074	1.00[ASW][hapmap];1.00[CEU][hapmap];0.90[CHB][hapmap];0.95[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10882083	0.86[ASN][1000 genomes]
rs10882095	0.96[CEU][hapmap];0.89[CHB][hapmap];0.90[JPT][hapmap]
rs10882096	0.95[CEU][hapmap]
rs11187007	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11187022	0.95[ASN][1000 genomes]
rs11187030	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11187033	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11187072	0.85[ASN][1000 genomes]
rs11187078	1.00[CEU][hapmap];0.87[JPT][hapmap];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11187096	0.96[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap]
rs11187114	0.96[CEU][hapmap];0.89[CHB][hapmap];0.89[JPT][hapmap]
rs12220493	0.85[ASN][1000 genomes]
rs2421943	0.95[CHB][hapmap];0.95[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs2421945	0.82[JPT][hapmap]
rs2798253	0.96[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2901597	0.82[ASN][1000 genomes]
rs3781241	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3824735	1.00[ASW][hapmap];0.96[CEU][hapmap];0.90[CHB][hapmap];0.90[CHD][hapmap];0.89[GIH][hapmap];0.91[JPT][hapmap];0.90[MEX][hapmap];0.98[TSI][hapmap]
rs4304670	0.82[JPT][hapmap]
rs61875362	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6583813	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7073833	0.87[ASN][1000 genomes]
rs7076966	0.86[ASN][1000 genomes]
rs7078418	0.84[ASN][1000 genomes]
rs7092468	0.80[ASN][1000 genomes]
rs7099761	0.81[JPT][hapmap]
rs7921210	0.80[ASN][1000 genomes]

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	nsv1046258	chr10:93866969-94466106	Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv551924	chr10:94212742-94290484	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv551925	chr10:94224165-94288429	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	esv1802816	chr10:94232247-94294291	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	esv1792868	chr10:94232247-94409749	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2149632	NOC3L	cis	cerebellum	SCAN
rs2149632	KIF11	cis	cerebellum	SCAN
rs2149632	STAMBPL1	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:94208400-94276800	Weak transcription	Stomach Mucosa	stomach
2	chr10:94209800-94234400	Weak transcription	Fetal Heart	heart
3	chr10:94210000-94243000	Weak transcription	Fetal Brain Female	brain
4	chr10:94210400-94235600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr10:94210400-94239200	Weak transcription	Fetal Brain Male	brain
6	chr10:94210600-94250000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr10:94211000-94235600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr10:94211400-94235600	Strong transcription	Primary T helper cells fromperipheralblood	blood
9	chr10:94211400-94235800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr10:94211400-94253200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr10:94212000-94232400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr10:94212400-94233800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr10:94212800-94270400	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr10:94214400-94234200	Strong transcription	Fetal Stomach	stomach
15	chr10:94217200-94232400	Weak transcription	Small Intestine	intestine
16	chr10:94217400-94251800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr10:94217600-94270200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr10:94217800-94245600	Strong transcription	Primary monocytes fromperipheralblood	blood
19	chr10:94218000-94245400	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr10:94218200-94251800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr10:94218400-94237800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr10:94222600-94243200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr10:94222800-94250800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr10:94223200-94252600	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr10:94224600-94238800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr10:94225400-94248800	Weak transcription	Brain Germinal Matrix	brain
27	chr10:94225600-94238600	Weak transcription	NHEK	skin
28	chr10:94225600-94248400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr10:94225600-94252600	Weak transcription	Fetal Kidney	kidney
30	chr10:94225800-94239000	Weak transcription	Right Ventricle	heart
31	chr10:94225800-94239200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr10:94226000-94245000	Weak transcription	K562	blood
33	chr10:94226200-94234200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr10:94227400-94251200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr10:94227800-94243000	Weak transcription	Colonic Mucosa	Colon
36	chr10:94228000-94242800	Weak transcription	NHDF-Ad	bronchial
37	chr10:94228800-94238400	Weak transcription	Brain Cingulate Gyrus	brain
38	chr10:94229000-94235000	Weak transcription	HSMMtube	muscle
39	chr10:94229200-94238000	Weak transcription	Osteobl	bone
40	chr10:94229200-94246400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr10:94229600-94233400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr10:94229800-94238400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr10:94230000-94233000	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr10:94230000-94233200	Weak transcription	HMEC	breast
45	chr10:94230000-94233400	Weak transcription	Fetal Intestine Large	intestine
46	chr10:94230000-94233800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr10:94230000-94233800	Weak transcription	Thymus	Thymus
48	chr10:94230000-94234000	Weak transcription	Fetal Muscle Trunk	muscle
49	chr10:94230000-94235000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr10:94230000-94235000	Weak transcription	Colon Smooth Muscle	Colon

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