Variant report

Variant	rs7336371
Chromosome Location	chr13:95221268-95221269
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs17196177	1.00[CHD][hapmap]
rs2226078	1.00[CHD][hapmap]
rs61965607	0.80[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs6492722	1.00[CHD][hapmap]
rs7330899	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7331837	1.00[CHD][hapmap]
rs7984105	1.00[CHD][hapmap]
rs7997429	0.84[CEU][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs8001569	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9301978	0.94[CEU][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9516436	1.00[CHD][hapmap];0.89[GIH][hapmap]
rs9524537	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9524538	0.91[EUR][1000 genomes]
rs9524552	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs9524570	0.85[YRI][hapmap];0.82[AMR][1000 genomes]
rs9590036	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9590039	1.00[CHD][hapmap];0.92[GIH][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	esv34004	chr13:94906537-95392644	Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv562756	chr13:95178317-95238154	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv832685	chr13:95179676-95279966	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv832686	chr13:95206742-95400992	Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7336371	GPR180	cis	parietal	SCAN
rs7336371	MBNL2	cis	cerebellum	SCAN
rs7336371	DCT	cis	parietal	SCAN

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:95202600-95221400	Weak transcription	Gastric	stomach
2	chr13:95202800-95221400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr13:95202800-95222000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr13:95202800-95223600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr13:95203000-95221400	Weak transcription	Fetal Intestine Small	intestine
6	chr13:95203000-95222400	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr13:95203200-95222200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr13:95203400-95222400	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr13:95203400-95222600	Weak transcription	A549	lung
10	chr13:95209200-95221600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr13:95209200-95222600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr13:95209400-95225000	Weak transcription	HepG2	liver
13	chr13:95209600-95222000	Weak transcription	HMEC	breast
14	chr13:95209800-95223000	Weak transcription	HUVEC	blood vessel
15	chr13:95210000-95222000	Weak transcription	Esophagus	oesophagus
16	chr13:95210000-95222000	Weak transcription	Lung	lung
17	chr13:95210600-95222000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr13:95210600-95222200	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr13:95210800-95225000	Weak transcription	K562	blood
20	chr13:95211200-95221400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr13:95211200-95222000	Weak transcription	Primary B cells from peripheral blood	blood
22	chr13:95211400-95222200	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr13:95211400-95223000	Weak transcription	Small Intestine	intestine
24	chr13:95211800-95222400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr13:95211800-95224000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr13:95212000-95221400	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr13:95212200-95221600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr13:95212200-95221600	Weak transcription	Spleen	Spleen
29	chr13:95212200-95221800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr13:95212200-95222000	Weak transcription	Pancreas	Pancrea
31	chr13:95212200-95223600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr13:95212400-95222800	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr13:95212400-95223400	Weak transcription	HSMM	muscle
34	chr13:95212600-95221800	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr13:95212600-95222000	Weak transcription	Left Ventricle	heart
36	chr13:95212600-95223600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr13:95212800-95225000	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr13:95213000-95222000	Weak transcription	Fetal Muscle Trunk	muscle
39	chr13:95213000-95222400	Weak transcription	Aorta	Aorta
40	chr13:95213200-95221800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr13:95213200-95222400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr13:95213200-95222800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr13:95213600-95222800	Weak transcription	Right Ventricle	heart
44	chr13:95213800-95221400	Weak transcription	Fetal Muscle Leg	muscle
45	chr13:95213800-95222600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr13:95214000-95222400	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr13:95215000-95235400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr13:95215800-95221400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr13:95217000-95222000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr13:95217600-95222400	Weak transcription	Fetal Lung	lung

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