Variant report

Variant	rs9284
Chromosome Location	chr10:49643570-49643571
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:49639954..49642271-chr10:49642777..49645613,2	K562	blood:
2	chr10:49640741..49644596-chr10:49677175..49679458,3	K562	blood:
3	chr10:49632219..49636851-chr10:49637055..49643743,11	K562	blood:
4	chr10:49517027..49519236-chr10:49642083..49643882,2	K562	blood:

Variant related genes	Relation type
ENSG00000107643	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10508901	0.85[CHB][hapmap];0.90[JPT][hapmap]
rs10508903	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs1051507	0.89[CEU][hapmap];0.84[CHB][hapmap]
rs1051509	0.85[CEU][hapmap];0.84[CHB][hapmap]
rs10745266	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap]
rs10776595	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10776596	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10857560	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs10857561	0.95[JPT][hapmap]
rs10857566	1.00[CEU][hapmap]
rs11101318	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11101320	0.93[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs12411830	0.90[CHB][hapmap];0.95[JPT][hapmap]
rs1345103	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs1919712	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1919713	0.85[CHB][hapmap];0.95[JPT][hapmap]
rs1997365	0.80[CHB][hapmap]
rs2017750	0.84[CHB][hapmap]
rs2289805	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs2377143	0.80[CHB][hapmap]
rs2377351	0.88[CHB][hapmap]
rs2440861	0.95[JPT][hapmap]
rs2463959	0.80[CHB][hapmap];0.95[JPT][hapmap]
rs2463960	0.93[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs2698761	0.93[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs2698766	1.00[CEU][hapmap];0.84[CHB][hapmap];0.94[JPT][hapmap]
rs2698767	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs3827680	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3827681	0.90[CEU][hapmap]
rs4838590	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs6537559	0.80[CHB][hapmap]
rs6537561	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7072515	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs7075976	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs7086275	0.93[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs7101060	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs734371	0.93[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs7898026	0.80[CHB][hapmap]
rs8428	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs9888128	0.93[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]

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	nsv895371	chr10:49492075-50232180	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
2	nsv895372	chr10:49576878-49933488	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1039508	chr10:49595718-49654403	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv519701	chr10:49636507-49651349	Strong transcription Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9284	MAPK8	cis	normal skin	skin_eQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:49607600-49647800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr10:49607600-49652400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr10:49608000-49645600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr10:49612000-49664200	Weak transcription	Thymus	Thymus
5	chr10:49612800-49660200	Weak transcription	Aorta	Aorta
6	chr10:49619000-49664200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr10:49619600-49645600	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr10:49620800-49646800	Weak transcription	Hela-S3	cervix
9	chr10:49620800-49647000	Weak transcription	NHDF-Ad	bronchial
10	chr10:49620800-49647600	Weak transcription	Colonic Mucosa	Colon
11	chr10:49620800-49652400	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr10:49620800-49658600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr10:49621200-49647000	Weak transcription	Fetal Intestine Small	intestine
14	chr10:49621200-49647400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr10:49621200-49647800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr10:49621200-49657400	Weak transcription	Brain Hippocampus Middle	brain
17	chr10:49621400-49643600	Weak transcription	Fetal Brain Male	brain
18	chr10:49621400-49644000	Weak transcription	Fetal Brain Female	brain
19	chr10:49621400-49647600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr10:49621400-49650800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr10:49621400-49652200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr10:49621400-49658600	Weak transcription	Brain Substantia Nigra	brain
23	chr10:49621400-49664400	Weak transcription	Brain Angular Gyrus	brain
24	chr10:49621600-49643600	Weak transcription	Colon Smooth Muscle	Colon
25	chr10:49621600-49647800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr10:49621600-49652200	Weak transcription	Fetal Heart	heart
27	chr10:49623000-49647000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr10:49623400-49646600	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr10:49624600-49664800	Weak transcription	Gastric	stomach
30	chr10:49625200-49646600	Weak transcription	Osteobl	bone
31	chr10:49625600-49646800	Weak transcription	HSMMtube	muscle
32	chr10:49625800-49648600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr10:49625800-49654400	Weak transcription	A549	lung
34	chr10:49626200-49647600	Weak transcription	GM12878-XiMat	blood
35	chr10:49626400-49647000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr10:49626400-49647000	Weak transcription	NHEK	skin
37	chr10:49626600-49643600	Weak transcription	Brain Anterior Caudate	brain
38	chr10:49626600-49647000	Weak transcription	HepG2	liver
39	chr10:49626600-49648800	Weak transcription	Lung	lung
40	chr10:49626600-49664400	Weak transcription	Spleen	Spleen
41	chr10:49626800-49643600	Weak transcription	HMEC	breast
42	chr10:49629000-49643600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr10:49630400-49652400	Weak transcription	Pancreas	Pancrea
44	chr10:49632800-49647800	Weak transcription	Psoas Muscle	Psoas
45	chr10:49633800-49646400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr10:49634000-49646400	Strong transcription	Dnd41	blood
47	chr10:49634800-49643600	Weak transcription	Primary monocytes fromperipheralblood	blood
48	chr10:49635200-49652200	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr10:49635400-49646000	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr10:49635400-49646800	Weak transcription	NHLF	lung

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