Variant report

Variant	rs1243192
Chromosome Location	chr10:21983960-21983961
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10508639	1.00[CHB][hapmap]
rs10740991	0.80[CEU][hapmap];1.00[CHB][hapmap]
rs10828252	1.00[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap]
rs10828258	0.82[AMR][1000 genomes]
rs10828264	1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];0.82[MKK][hapmap];0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs10828266	0.80[CEU][hapmap];1.00[CHB][hapmap]
rs11012737	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap]
rs11012794	0.87[ASW][hapmap];1.00[CHB][hapmap];1.00[LWK][hapmap]
rs12356674	1.00[ASW][hapmap];0.95[CEU][hapmap];0.97[GIH][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.83[TSI][hapmap]
rs12357321	0.85[CEU][hapmap];1.00[CHB][hapmap]
rs1243180	1.00[CEU][hapmap]
rs1243184	0.82[AMR][1000 genomes]
rs1243189	0.81[AMR][1000 genomes]
rs1243193	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1243194	0.95[CEU][hapmap];1.00[CHB][hapmap];0.97[GIH][hapmap];0.85[MEX][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1243195	1.00[CHB][hapmap]
rs1269454	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap]
rs2026092	0.95[CEU][hapmap];1.00[CHB][hapmap];0.94[GIH][hapmap];0.91[MEX][hapmap];0.93[TSI][hapmap]
rs2050905	0.85[MKK][hapmap]
rs2066270	0.87[ASW][hapmap];1.00[CHB][hapmap];0.94[GIH][hapmap]
rs2066271	0.87[ASW][hapmap];1.00[CHB][hapmap];0.94[GIH][hapmap]
rs2666769	1.00[CHB][hapmap]
rs2666771	1.00[CHB][hapmap]
rs2666779	1.00[CHB][hapmap];0.94[GIH][hapmap]
rs3951780	0.87[ASW][hapmap];0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap]
rs4024198	1.00[CHB][hapmap]
rs4748761	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7082663	0.87[ASW][hapmap];1.00[CHB][hapmap];0.88[MKK][hapmap]
rs7084454	0.85[CEU][hapmap];1.00[CHB][hapmap]
rs792453	1.00[CHB][hapmap];0.88[GIH][hapmap]
rs792456	0.85[GIH][hapmap]
rs806774	0.80[CEU][hapmap];1.00[CHB][hapmap]
rs946711	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1036585	chr10:21833717-21998042	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv550202	chr10:21856475-22027644	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv1052464	chr10:21856531-22220087	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	esv1802317	chr10:21866085-22288132	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv894947	chr10:21869609-22117913	ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
6	esv1792771	chr10:21874152-22013644	Enhancers ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
7	esv1803077	chr10:21878144-22013644	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
8	nsv550203	chr10:21916468-22062729	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1243192	MLLT10	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:21928600-21988200	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr10:21929800-21988000	Weak transcription	HUVEC	blood vessel
3	chr10:21938600-21993800	Weak transcription	Lung	lung
4	chr10:21942400-21987200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr10:21942600-22004000	Weak transcription	NH-A	brain
6	chr10:21942800-21988400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr10:21943800-22002000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr10:21951200-21989000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr10:21951800-21989200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr10:21952000-21984800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr10:21952000-21988000	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr10:21955000-21988000	Weak transcription	Fetal Muscle Trunk	muscle
13	chr10:21956800-21988000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr10:21959600-21984600	Weak transcription	Colon Smooth Muscle	Colon
15	chr10:21961400-21993800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr10:21962600-21986600	Weak transcription	Fetal Kidney	kidney
17	chr10:21962800-21984000	Weak transcription	Thymus	Thymus
18	chr10:21962800-21986800	Weak transcription	Fetal Lung	lung
19	chr10:21962800-21988200	Weak transcription	Duodenum Mucosa	Duodenum
20	chr10:21963000-21986800	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr10:21963000-21988000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr10:21963000-21988200	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr10:21963000-21993600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr10:21969000-21984600	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr10:21969000-21987600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr10:21970400-21984600	Weak transcription	HMEC	breast
27	chr10:21970400-21988400	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr10:21970400-21988600	Weak transcription	Primary neutrophils fromperipheralblood	blood
29	chr10:21973400-21987000	Weak transcription	Fetal Muscle Leg	muscle
30	chr10:21975400-21984400	Strong transcription	Primary monocytes fromperipheralblood	blood
31	chr10:21975800-21986600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr10:21976000-21984000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr10:21976600-21986000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr10:21976800-21984200	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr10:21976800-21987000	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr10:21976800-21988400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr10:21976800-21988400	Weak transcription	A549	lung
38	chr10:21976800-21989200	Weak transcription	NHDF-Ad	bronchial
39	chr10:21976800-22013000	Weak transcription	HSMMtube	muscle
40	chr10:21977000-22002200	Weak transcription	Osteobl	bone
41	chr10:21977200-21987600	Weak transcription	Primary T cells fromperipheralblood	blood
42	chr10:21977600-21984800	Weak transcription	Primary T cells from cord blood	blood
43	chr10:21977600-21989400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr10:21977800-21985200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr10:21977800-21988000	Weak transcription	Fetal Intestine Large	intestine
46	chr10:21977800-21988400	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr10:21977800-21988600	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr10:21977800-21992400	Weak transcription	Fetal Thymus	thymus
49	chr10:21978000-21985600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr10:21978000-21987000	Weak transcription	Primary B cells from cord blood	blood

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