Variant report

Variant	rs7101060
Chromosome Location	chr10:49536647-49536648
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:49522636..49524628-chr10:49534736..49536666,2	K562	blood:
2	chr10:49515900..49518265-chr10:49536471..49538431,2	K562	blood:
3	chr10:49514705..49518265-chr10:49536043..49538219,3	K562	blood:

Variant related genes	Relation type
ENSG00000107643	Chromatin interaction

Extended variants
information (count: 75 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs10218874	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10437448	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10508901	0.85[CHB][hapmap];0.90[JPT][hapmap]
rs10508903	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1051507	0.81[ASW][hapmap];0.92[CEU][hapmap];0.84[CHB][hapmap];0.92[CHD][hapmap];0.89[GIH][hapmap];0.93[LWK][hapmap];0.92[MEX][hapmap];0.82[TSI][hapmap];0.91[EUR][1000 genomes]
rs1051508	0.90[EUR][1000 genomes]
rs1051509	0.82[CEU][hapmap];0.84[CHB][hapmap];0.92[CHD][hapmap];0.83[GIH][hapmap];0.82[TSI][hapmap];0.87[EUR][1000 genomes]
rs10745265	0.80[CHB][hapmap]
rs10745266	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[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];0.95[YRI][hapmap];0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10745269	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10745270	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10776595	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10776596	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10776598	0.83[AFR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10776600	0.81[EUR][1000 genomes]
rs10857560	1.00[ASW][hapmap];0.96[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];1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10857561	0.87[CHD][hapmap];0.95[JPT][hapmap]
rs10857562	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10857566	0.96[CEU][hapmap];0.95[EUR][1000 genomes]
rs11101290	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11101298	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11101306	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11101317	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11101318	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11101320	0.89[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11598434	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12411830	0.95[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs1345103	0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1919708	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1919712	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs1919713	0.85[CHB][hapmap];0.84[CHD][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs1997365	0.80[CHB][hapmap]
rs2017750	0.84[CHB][hapmap];0.95[CHD][hapmap];0.85[GIH][hapmap]
rs2263102	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2289805	0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs2377351	0.88[CHB][hapmap]
rs2440861	0.87[CHD][hapmap];0.95[JPT][hapmap]
rs2463959	0.95[JPT][hapmap]
rs2463960	0.88[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2590381	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2698761	0.89[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.97[TSI][hapmap];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2698766	1.00[CEU][hapmap];0.84[CHB][hapmap];0.94[JPT][hapmap];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2698767	0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2889611	0.82[CHD][hapmap]
rs2921271	0.85[ASN][1000 genomes]
rs3789320	0.89[EUR][1000 genomes]
rs3827680	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3827681	0.85[CEU][hapmap]
rs3950310	0.91[ASN][1000 genomes]
rs4838590	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61840543	0.90[ASN][1000 genomes]
rs6537559	0.80[CHB][hapmap]
rs6537560	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6537561	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.97[TSI][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7072515	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7075976	1.00[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];1.00[YRI][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7076214	0.86[ASN][1000 genomes]
rs7086070	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7086275	0.89[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs734371	0.89[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7898026	0.80[CHB][hapmap]
rs7904142	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7912697	0.88[ASN][1000 genomes]
rs7924070	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8428	0.89[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.97[TSI][hapmap];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs867631	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs883604	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9284	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs9888128	0.89[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv895366	chr10:49299274-49576454	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv895368	chr10:49381635-49551560	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv467190	chr10:49402084-49576878	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv550811	chr10:49402084-49576878	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	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
6	nsv6587	chr10:49526329-49571804	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs7101060	MAPK8	cis	Thyroid	GTEx
rs7101060	MAPK8	cis	cerebellum	SCAN
rs7101060	MAPK8	Cis_1M	lymphoblastoid	RTeQTL
rs7101060	MAPK8	cis	normal skin	skin_eQTL
rs7101060	ANUBL1	cis	cerebellum	SCAN
rs7101060	SGMS1	cis	parietal	SCAN
rs7101060	ARHGAP22	cis	parietal	SCAN
rs7101060	MAPK8	cis	parietal	SCAN

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:49515600-49541400	Weak transcription	Lung	lung
2	chr10:49516400-49538400	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr10:49516400-49538800	Weak transcription	Fetal Muscle Trunk	muscle
4	chr10:49516400-49541400	Weak transcription	Right Atrium	heart
5	chr10:49516400-49547200	Weak transcription	Brain Cingulate Gyrus	brain
6	chr10:49516400-49559600	Weak transcription	Rectal Smooth Muscle	rectum
7	chr10:49516600-49538400	Weak transcription	Primary B cells from cord blood	blood
8	chr10:49516600-49538600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr10:49516600-49538600	Weak transcription	Fetal Stomach	stomach
10	chr10:49517800-49544600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr10:49518200-49542200	Weak transcription	HSMM	muscle
12	chr10:49518600-49538400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr10:49518800-49538600	Weak transcription	Fetal Intestine Large	intestine
14	chr10:49518800-49540600	Weak transcription	NHEK	skin
15	chr10:49518800-49542000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr10:49518800-49544000	Weak transcription	Duodenum Mucosa	Duodenum
17	chr10:49519000-49538600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr10:49519000-49540200	Weak transcription	HMEC	breast
19	chr10:49520200-49549800	Weak transcription	HUVEC	blood vessel
20	chr10:49522800-49539200	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr10:49522800-49550800	Weak transcription	Small Intestine	intestine
22	chr10:49523400-49538400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr10:49523600-49538600	Weak transcription	Colon Smooth Muscle	Colon
24	chr10:49524800-49538400	Weak transcription	Right Ventricle	heart
25	chr10:49525000-49541600	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr10:49525400-49538400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr10:49525800-49551800	Weak transcription	Adipose Nuclei	Adipose
28	chr10:49526000-49537200	Weak transcription	Thymus	Thymus
29	chr10:49526000-49538400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr10:49526000-49538400	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr10:49526000-49538600	Weak transcription	Fetal Kidney	kidney
32	chr10:49526000-49539600	Weak transcription	Primary B cells from peripheral blood	blood
33	chr10:49526200-49537200	Weak transcription	Fetal Thymus	thymus
34	chr10:49526200-49538400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr10:49526200-49538400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr10:49526200-49538400	Weak transcription	GM12878-XiMat	blood
37	chr10:49526200-49552000	Weak transcription	NH-A	brain
38	chr10:49526400-49538400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr10:49526400-49538600	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr10:49526600-49538400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr10:49526600-49538600	Weak transcription	Fetal Lung	lung
42	chr10:49526600-49539000	Weak transcription	Fetal Brain Female	brain
43	chr10:49526800-49538400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr10:49528600-49538600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr10:49529000-49538400	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr10:49529000-49538400	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr10:49529000-49538600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr10:49529000-49550800	Weak transcription	K562	blood
49	chr10:49529400-49539600	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr10:49529800-49539000	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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