Variant report

Variant	rs7843515
Chromosome Location	chr8:118922698-118922699
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	8:118911988-118922970..8:119208477-119211356	GM12878	blood:

Extended variants
information (count: 96 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs10087446	0.82[CHD][hapmap]
rs10097196	0.82[CHB][hapmap]
rs10105797	0.80[ASN][1000 genomes]
rs10106675	0.95[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1125103	0.87[CEU][hapmap];0.91[CHB][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11774623	1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11776292	0.81[CHB][hapmap];0.80[JPT][hapmap];0.80[ASN][1000 genomes]
rs11776458	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11777220	0.89[ASN][1000 genomes]
rs11777874	0.95[CHB][hapmap];0.86[JPT][hapmap];0.94[ASN][1000 genomes]
rs11780699	0.87[CEU][hapmap];0.91[CHB][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11781153	0.91[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.95[GIH][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11781245	0.87[CEU][hapmap];1.00[CHB][hapmap];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11783359	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11784409	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11784466	0.95[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11785986	0.87[GIH][hapmap]
rs11986974	0.82[CHB][hapmap]
rs12678309	0.82[CHB][hapmap]
rs12682332	0.95[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13252084	0.91[CEU][hapmap];0.88[EUR][1000 genomes]
rs1462985	0.91[CHB][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1466429	0.82[CHD][hapmap]
rs1542519	0.83[CEU][hapmap];0.91[CHB][hapmap];0.86[CHD][hapmap];0.82[MEX][hapmap];0.87[ASN][1000 genomes]
rs17430540	1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17430610	0.95[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17450835	1.00[CEU][hapmap];0.91[CHB][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17450856	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17450863	1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17450876	1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17452966	1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.85[YRI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17453043	0.95[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17475190	0.95[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17479600	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17503934	0.82[CHB][hapmap]
rs2199545	0.82[CHD][hapmap]
rs2447535	0.82[CEU][hapmap];0.95[CHB][hapmap];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2447536	0.86[CEU][hapmap];0.85[CHB][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2447537	0.87[CEU][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2447538	0.91[CHB][hapmap];0.85[ASN][1000 genomes]
rs2447539	0.91[CHB][hapmap];0.86[ASN][1000 genomes]
rs2447540	0.83[CEU][hapmap];0.91[CHB][hapmap];0.86[CHD][hapmap];0.88[MEX][hapmap];0.87[TSI][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2447541	0.83[CEU][hapmap];0.91[CHB][hapmap];0.86[CHD][hapmap];0.82[MEX][hapmap];0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2514719	0.82[CEU][hapmap];0.91[CHB][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2514720	0.95[CHB][hapmap];0.86[ASN][1000 genomes]
rs28357271	1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28357275	0.95[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28357276	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28357277	0.95[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3101574	0.87[CEU][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4298514	0.87[CEU][hapmap];0.89[TSI][hapmap];0.88[EUR][1000 genomes]
rs4391466	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4475517	0.88[EUR][1000 genomes]
rs4480148	0.91[CEU][hapmap];0.83[GIH][hapmap];0.97[TSI][hapmap];0.88[EUR][1000 genomes]
rs4541958	0.87[CEU][hapmap];0.91[CHB][hapmap];0.88[CHD][hapmap];0.81[JPT][hapmap];0.88[MEX][hapmap];0.89[TSI][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4602926	1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4621831	0.91[CEU][hapmap];0.83[GIH][hapmap];0.97[TSI][hapmap];0.88[EUR][1000 genomes]
rs4644291	0.88[EUR][1000 genomes]
rs4876777	0.82[CEU][hapmap];0.91[CHB][hapmap];0.83[ASN][1000 genomes]
rs4876782	0.81[CHD][hapmap]
rs4876783	0.82[CHD][hapmap]
rs4876784	0.82[CHD][hapmap]
rs5005135	0.95[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56748438	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62521139	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62521140	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62521141	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6469716	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6469718	0.87[CEU][hapmap];0.88[EUR][1000 genomes]
rs6982505	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6985552	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6999044	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7007735	1.00[CEU][hapmap];0.91[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7012890	1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7820452	1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.85[YRI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7822297	0.95[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7824327	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7824391	1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7824395	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7824651	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7830840	0.82[CHB][hapmap]
rs7836747	1.00[CEU][hapmap];0.86[CHB][hapmap];0.81[JPT][hapmap];0.85[YRI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7840309	0.91[CHB][hapmap];0.86[CHD][hapmap];0.83[ASN][1000 genomes]
rs7842917	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs958381	0.87[CEU][hapmap];0.91[CHB][hapmap];0.86[CHD][hapmap];0.84[TSI][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9656923	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9656925	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019636	chr8:118598433-118946091	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv539734	chr8:118598433-118946091	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv933516	chr8:118764605-119009093	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv1030459	chr8:118840179-119155835	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv831440	chr8:118871930-119052269	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv891411	chr8:118891896-118942698	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv1032355	chr8:118896733-119003223	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv465785	chr8:118901928-118970300	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv612046	chr8:118901928-118970300	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7843515	MAL2	cis	cerebellum	SCAN

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:118908800-118925800	Weak transcription	Duodenum Mucosa	Duodenum
2	chr8:118909800-118923000	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr8:118912000-118925800	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr8:118913000-118923200	Weak transcription	Gastric	stomach
5	chr8:118913400-118925600	Weak transcription	Colon Smooth Muscle	Colon
6	chr8:118916200-118925800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr8:118917800-118923200	Weak transcription	Esophagus	oesophagus
8	chr8:118918000-118923000	Weak transcription	Pancreas	Pancrea
9	chr8:118919000-118926800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr8:118919200-118933200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr8:118919600-118922800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr8:118919800-118925800	Weak transcription	Small Intestine	intestine
13	chr8:118921200-118926400	Enhancers	NHDF-Ad	bronchial
14	chr8:118921200-118926600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr8:118921400-118923800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr8:118921400-118924600	Enhancers	HMEC	breast
17	chr8:118921600-118924000	Enhancers	NHEK	skin
18	chr8:118921600-118924200	Enhancers	NH-A	brain
19	chr8:118921600-118926400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr8:118921800-118923000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr8:118921800-118923200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr8:118921800-118924000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr8:118921800-118926400	Enhancers	NHLF	lung
24	chr8:118922000-118922800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr8:118922000-118923200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr8:118922000-118923400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr8:118922000-118924000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr8:118922200-118922800	Enhancers	Psoas Muscle	Psoas
29	chr8:118922200-118923200	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr8:118922200-118923400	Enhancers	Fetal Muscle Trunk	muscle
31	chr8:118922200-118923400	Enhancers	Right Atrium	heart
32	chr8:118922200-118923800	Enhancers	Fetal Muscle Leg	muscle
33	chr8:118922200-118923800	Enhancers	Right Ventricle	heart
34	chr8:118922200-118923800	Enhancers	HUVEC	blood vessel
35	chr8:118922200-118924000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr8:118922200-118924000	Enhancers	Adipose Nuclei	Adipose
37	chr8:118922200-118924000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr8:118922200-118924000	Enhancers	Left Ventricle	heart
39	chr8:118922200-118924000	Enhancers	Ovary	ovary
40	chr8:118922400-118922800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr8:118922400-118922800	Enhancers	HepG2	liver
42	chr8:118922400-118923000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr8:118922400-118923000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr8:118922400-118923000	Flanking Active TSS	A549	lung
45	chr8:118922400-118923400	Enhancers	Fetal Heart	heart
46	chr8:118922400-118924000	Enhancers	Skeletal Muscle Male	skeletal muscle
47	chr8:118922400-118926400	Enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr8:118922600-118922800	Flanking Active TSS	Osteobl	bone
49	chr8:118922600-118923000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
50	chr8:118922600-118923200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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