Variant report

Variant	rs4933621
Chromosome Location	chr10:92668029-92668030
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:92665895..92668775-chr10:92778505..92780416,2	K562	blood:
2	chr10:92667826..92669650-chr10:92671220..92673051,2	K562	blood:
3	chr10:92667885..92670483-chr10:92979260..92981287,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000180628	Chromatin interaction

Extended variants
information (count: 79 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs10509612	1.00[CEU][hapmap];0.93[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11186309	1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[ASN][1000 genomes]
rs11591238	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11594126	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11594548	1.00[CHB][hapmap];0.93[CHD][hapmap];0.86[ASN][1000 genomes]
rs11594649	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11813096	0.88[ASN][1000 genomes]
rs11813240	0.86[ASN][1000 genomes]
rs11814840	0.88[ASN][1000 genomes]
rs11817810	0.86[ASN][1000 genomes]
rs12255018	0.86[YRI][hapmap]
rs12411309	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12412496	1.00[CHB][hapmap];0.89[YRI][hapmap];0.85[ASN][1000 genomes]
rs12413941	0.83[ASN][1000 genomes]
rs12414389	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12414726	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12415970	0.88[ASN][1000 genomes]
rs12761105	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12764332	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12764938	0.86[ASN][1000 genomes]
rs12766523	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12766851	1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[YRI][hapmap];0.86[ASN][1000 genomes]
rs12772924	0.88[ASN][1000 genomes]
rs12774947	0.85[ASN][1000 genomes]
rs12778269	0.84[ASN][1000 genomes]
rs12779377	0.84[ASN][1000 genomes]
rs12779610	0.84[ASN][1000 genomes]
rs12783703	1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[ASN][1000 genomes]
rs12785051	0.86[ASN][1000 genomes]
rs1418214	0.86[ASN][1000 genomes]
rs1935346	1.00[CEU][hapmap];0.92[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1935348	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1935349	1.00[CEU][hapmap];1.00[CHB][hapmap];0.80[YRI][hapmap];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1935350	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1935351	1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[ASN][1000 genomes]
rs2153779	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2185706	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[LWK][hapmap];0.81[MKK][hapmap];0.91[TSI][hapmap];0.80[YRI][hapmap];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2420368	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34871116	0.88[ASN][1000 genomes]
rs35449520	0.88[ASN][1000 genomes]
rs35598406	0.86[ASN][1000 genomes]
rs35731058	0.85[ASN][1000 genomes]
rs35863839	0.88[ASN][1000 genomes]
rs36101610	0.85[ASN][1000 genomes]
rs4144423	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4272713	1.00[CHB][hapmap];0.89[YRI][hapmap];0.86[ASN][1000 genomes]
rs4406742	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4459202	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4933195	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs4933199	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4933200	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4933607	1.00[CHB][hapmap];0.89[YRI][hapmap];0.85[ASN][1000 genomes]
rs4933608	0.86[ASN][1000 genomes]
rs4933613	0.88[ASN][1000 genomes]
rs4933620	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57825126	0.83[ASN][1000 genomes]
rs58460916	0.88[ASN][1000 genomes]
rs58586220	0.88[ASN][1000 genomes]
rs58868307	0.84[ASN][1000 genomes]
rs59277098	0.83[ASN][1000 genomes]
rs60135579	0.85[ASN][1000 genomes]
rs60748043	0.84[ASN][1000 genomes]
rs61218433	0.83[ASN][1000 genomes]
rs7074715	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[LWK][hapmap];0.90[MEX][hapmap];0.82[MKK][hapmap];0.87[TSI][hapmap];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7075333	0.86[ASN][1000 genomes]
rs7078682	0.85[ASN][1000 genomes]
rs7079426	0.88[ASN][1000 genomes]
rs7084468	0.85[CEU][hapmap];1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs7086484	0.94[CHB][hapmap];0.93[CHD][hapmap];0.82[ASN][1000 genomes]
rs7089533	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.91[LWK][hapmap];0.91[TSI][hapmap];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7090415	0.86[ASN][1000 genomes]
rs7090941	0.86[ASN][1000 genomes]
rs7093602	1.00[CEU][hapmap];1.00[CHB][hapmap];0.80[YRI][hapmap];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7096934	0.88[ASN][1000 genomes]
rs71479059	0.88[ASN][1000 genomes]
rs7893260	0.88[ASN][1000 genomes]
rs7893391	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7897751	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831945	chr10:92590576-92793582	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4933621	IDE	cis	cerebellum	SCAN

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:92632800-92668200	Weak transcription	Small Intestine	intestine
2	chr10:92635200-92668200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr10:92636800-92671600	Weak transcription	Fetal Brain Male	brain
4	chr10:92640800-92671600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr10:92646800-92676800	Weak transcription	Right Ventricle	heart
6	chr10:92648400-92684400	Weak transcription	Aorta	Aorta
7	chr10:92648600-92668600	Weak transcription	Spleen	Spleen
8	chr10:92648600-92669600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr10:92648600-92671600	Weak transcription	Fetal Intestine Small	intestine
10	chr10:92648600-92675000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr10:92648600-92679800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr10:92648600-92681000	Weak transcription	Pancreas	Pancrea
13	chr10:92649200-92675200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr10:92649600-92669000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr10:92649600-92671200	Weak transcription	Hela-S3	cervix
16	chr10:92651400-92675000	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr10:92651600-92671600	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr10:92652000-92670200	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr10:92652400-92679400	Weak transcription	Psoas Muscle	Psoas
20	chr10:92653400-92671600	Weak transcription	Brain Angular Gyrus	brain
21	chr10:92653600-92669400	Weak transcription	K562	blood
22	chr10:92653600-92671600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr10:92653600-92671800	Weak transcription	HSMMtube	muscle
24	chr10:92653800-92671400	Weak transcription	Brain Hippocampus Middle	brain
25	chr10:92654000-92670600	Weak transcription	Ovary	ovary
26	chr10:92654400-92672200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr10:92654600-92670400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr10:92654600-92675000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr10:92654800-92668800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr10:92654800-92671600	Weak transcription	Fetal Kidney	kidney
31	chr10:92654800-92674000	Weak transcription	Fetal Heart	heart
32	chr10:92655000-92668400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr10:92656200-92669600	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr10:92656400-92671400	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr10:92656400-92678400	Weak transcription	NHDF-Ad	bronchial
36	chr10:92657200-92669000	Weak transcription	Fetal Brain Female	brain
37	chr10:92657200-92671600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr10:92658000-92668200	Strong transcription	Primary T cells from cord blood	blood
39	chr10:92658200-92676800	Weak transcription	NH-A	brain
40	chr10:92658600-92668200	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr10:92658800-92671600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr10:92659600-92671600	Weak transcription	HepG2	liver
43	chr10:92660600-92671600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr10:92660800-92669400	Weak transcription	Primary B cells from cord blood	blood
45	chr10:92660800-92671600	Weak transcription	Osteobl	bone
46	chr10:92661000-92671600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr10:92661000-92680000	Weak transcription	Placenta	Placenta
48	chr10:92661200-92669000	Weak transcription	Stomach Smooth Muscle	stomach
49	chr10:92661200-92671600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr10:92661400-92669400	Weak transcription	Rectal Mucosa Donor 31	rectum

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