Variant report

Variant	rs1243187
Chromosome Location	chr10:21907016-21907017
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	chr10:21905679..21908459-chr10:21909977..21914285,3	K562	blood:
2	chr10:21896692..21901028-chr10:21902485..21907046,7	K562	blood:

Extended variants
information (count: 56 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10430587	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10508639	0.81[CEU][hapmap];1.00[YRI][hapmap]
rs10740991	0.85[CEU][hapmap];1.00[YRI][hapmap]
rs10828247	0.82[TSI][hapmap]
rs10828248	0.84[TSI][hapmap]
rs10828249	0.84[TSI][hapmap]
rs10828250	0.88[EUR][1000 genomes]
rs10828252	0.87[ASW][hapmap];0.90[CEU][hapmap];0.91[GIH][hapmap];1.00[LWK][hapmap];0.89[MKK][hapmap];0.86[TSI][hapmap];0.92[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs10828256	0.92[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs10828258	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10828264	0.84[GIH][hapmap]
rs10828266	0.85[CEU][hapmap];0.82[MEX][hapmap]
rs11012737	0.87[ASW][hapmap];0.95[CEU][hapmap];0.91[GIH][hapmap];1.00[LWK][hapmap];0.89[MKK][hapmap];0.93[TSI][hapmap];0.92[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs11012750	0.92[AFR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11012794	1.00[ASW][hapmap];1.00[LWK][hapmap];0.82[MEX][hapmap];0.82[YRI][hapmap]
rs11592565	0.92[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs12356674	0.87[ASW][hapmap];0.90[CEU][hapmap];0.90[GIH][hapmap];1.00[LWK][hapmap];0.89[MKK][hapmap];0.80[TSI][hapmap];0.92[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs12357321	0.81[CEU][hapmap]
rs1243179	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1243180	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1243182	1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs1243184	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1243185	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1243188	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1243189	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1243194	0.90[CEU][hapmap];0.91[GIH][hapmap]
rs1269454	0.85[CEU][hapmap];0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1270799	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12769128	0.92[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs12770228	0.87[ASW][hapmap];0.89[MKK][hapmap];0.84[TSI][hapmap]
rs12779865	0.85[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs12783517	0.92[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs12784277	0.86[EUR][1000 genomes]
rs2026092	0.90[CEU][hapmap];0.94[GIH][hapmap];0.91[MEX][hapmap];0.84[TSI][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2050905	1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.85[MKK][hapmap]
rs2183271	0.81[TSI][hapmap]
rs34719019	0.84[AFR][1000 genomes]
rs35587371	0.91[EUR][1000 genomes]
rs3951780	1.00[ASW][hapmap];0.90[CEU][hapmap];1.00[LWK][hapmap];0.86[MEX][hapmap];0.89[MKK][hapmap];1.00[YRI][hapmap]
rs4024198	0.81[CEU][hapmap]
rs61850044	0.90[EUR][1000 genomes]
rs6482188	0.88[EUR][1000 genomes]
rs6482189	0.83[GIH][hapmap]
rs7082663	1.00[ASW][hapmap];0.82[YRI][hapmap]
rs7084454	0.81[CEU][hapmap]
rs7098100	0.82[GIH][hapmap];0.84[TSI][hapmap]
rs7894565	0.87[EUR][1000 genomes]
rs7905967	0.90[EUR][1000 genomes]
rs946711	0.88[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1243187	MLLT10	Cis_1M	lymphoblastoid	RTeQTL
rs1243187	PXDN	trans	lymphoblastoid	seeQTL

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:21824600-21930400	Weak transcription	Gastric	stomach
2	chr10:21846800-21913600	Weak transcription	Rectal Smooth Muscle	rectum
3	chr10:21848800-21914200	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr10:21849400-21913600	Weak transcription	Esophagus	oesophagus
5	chr10:21856800-21913400	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr10:21861800-21913800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr10:21862400-21913600	Weak transcription	Adipose Nuclei	Adipose
8	chr10:21862400-21916400	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr10:21866000-21913600	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr10:21874000-21938400	Weak transcription	Spleen	Spleen
11	chr10:21874600-21923400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr10:21875600-21907600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr10:21876400-21913600	Weak transcription	Duodenum Mucosa	Duodenum
14	chr10:21877400-21926600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr10:21879200-21913600	Weak transcription	Lung	lung
16	chr10:21882400-21915200	Weak transcription	Ovary	ovary
17	chr10:21892400-21926400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr10:21893600-21926000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr10:21894200-21914800	Weak transcription	HSMMtube	muscle
20	chr10:21895400-21911200	Weak transcription	Primary B cells from peripheral blood	blood
21	chr10:21895400-21911800	Weak transcription	Osteobl	bone
22	chr10:21895400-21914400	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr10:21895800-21911800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr10:21895800-21914200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr10:21896000-21914400	Weak transcription	HMEC	breast
26	chr10:21896600-21907200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr10:21896600-21907600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr10:21896600-21926000	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr10:21896800-21913800	Weak transcription	Thymus	Thymus
30	chr10:21896800-21973200	Weak transcription	Hela-S3	cervix
31	chr10:21897200-21928000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr10:21897400-21909600	Weak transcription	Fetal Stomach	stomach
33	chr10:21897400-21913800	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr10:21897400-21925000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr10:21897400-21925200	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr10:21897400-21960200	Weak transcription	Fetal Brain Male	brain
37	chr10:21898200-21941200	Weak transcription	Fetal Kidney	kidney
38	chr10:21898600-21913400	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr10:21898600-21943800	Weak transcription	Brain Cingulate Gyrus	brain
40	chr10:21899000-21914400	Weak transcription	Psoas Muscle	Psoas
41	chr10:21899000-21915400	Weak transcription	Brain Substantia Nigra	brain
42	chr10:21899000-21923800	Weak transcription	Small Intestine	intestine
43	chr10:21899200-21911200	Weak transcription	Brain Angular Gyrus	brain
44	chr10:21899400-21907600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr10:21899400-21911800	Weak transcription	A549	lung
46	chr10:21899400-21915200	Weak transcription	Brain Anterior Caudate	brain
47	chr10:21899400-21915200	Weak transcription	Right Atrium	heart
48	chr10:21899400-21938000	Weak transcription	Aorta	Aorta
49	chr10:21900200-21908200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr10:21900400-21913200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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