Variant report

Variant	rs7322414
Chromosome Location	chr13:76342150-76342151
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1036869	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2031241	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2031242	0.81[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs2120067	0.88[EUR][1000 genomes]
rs2120068	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4885349	0.88[CEU][hapmap];0.86[CHB][hapmap];0.86[CHD][hapmap];0.93[GIH][hapmap];0.91[JPT][hapmap];0.85[MEX][hapmap];0.80[TSI][hapmap]
rs7139507	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7320900	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7321748	0.88[ASW][hapmap];0.96[CEU][hapmap];0.87[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];0.97[TSI][hapmap];0.93[YRI][hapmap];0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7326714	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7331429	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7992526	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9530467	0.92[AFR][1000 genomes]
rs9530473	0.82[GIH][hapmap]
rs9544043	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9573659	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]

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	nsv949152	chr13:76211453-76366622	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv832646	chr13:76300428-76483102	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	esv2758333	chr13:76321610-76542003	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	esv2759950	chr13:76321610-76542003	Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7322414	TBC1D4	cis	cerebellum	SCAN

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:76308200-76345200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr13:76323800-76356600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr13:76334800-76343600	Genic enhancers	Osteobl	bone
4	chr13:76337000-76344400	Weak transcription	Ovary	ovary
5	chr13:76337400-76344200	Weak transcription	Placenta	Placenta
6	chr13:76337400-76347600	Weak transcription	Gastric	stomach
7	chr13:76337600-76342400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
8	chr13:76337600-76343400	Weak transcription	Fetal Kidney	kidney
9	chr13:76337600-76344200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr13:76338000-76344600	Weak transcription	HMEC	breast
11	chr13:76338000-76344600	Weak transcription	NHEK	skin
12	chr13:76338000-76356800	Weak transcription	Brain Anterior Caudate	brain
13	chr13:76338000-76362800	Weak transcription	Fetal Stomach	stomach
14	chr13:76338200-76342600	Enhancers	Fetal Intestine Large	intestine
15	chr13:76338600-76343800	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr13:76338600-76345000	Weak transcription	Colonic Mucosa	Colon
17	chr13:76338600-76356600	Weak transcription	Left Ventricle	heart
18	chr13:76338800-76343400	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr13:76338800-76343800	Enhancers	A549	lung
20	chr13:76338800-76371000	Weak transcription	Fetal Thymus	thymus
21	chr13:76339000-76348200	Enhancers	Fetal Intestine Small	intestine
22	chr13:76339400-76342200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr13:76339400-76342600	Enhancers	Primary T helper naive cells from peripheral blood	blood
24	chr13:76339400-76343200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr13:76339400-76343400	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr13:76339600-76342200	Enhancers	Stomach Mucosa	stomach
27	chr13:76339800-76342400	Weak transcription	NHLF	lung
28	chr13:76339800-76342600	Enhancers	Primary T helper cells fromperipheralblood	blood
29	chr13:76339800-76344600	Weak transcription	Fetal Heart	heart
30	chr13:76340000-76343400	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr13:76340000-76343400	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr13:76340000-76363600	Weak transcription	Thymus	Thymus
33	chr13:76340200-76343200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr13:76340200-76343400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr13:76340200-76343400	Weak transcription	Psoas Muscle	Psoas
36	chr13:76340200-76343400	Weak transcription	HSMMtube	muscle
37	chr13:76340200-76343600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr13:76340200-76343800	Strong transcription	HSMM	muscle
39	chr13:76340200-76344200	Weak transcription	Fetal Lung	lung
40	chr13:76340200-76347200	Weak transcription	Pancreas	Pancrea
41	chr13:76340200-76349200	Enhancers	NHDF-Ad	bronchial
42	chr13:76340600-76342400	Enhancers	Primary T killer memory cells from peripheral blood	blood
43	chr13:76340600-76344400	Weak transcription	NH-A	brain
44	chr13:76340800-76344200	Weak transcription	Small Intestine	intestine
45	chr13:76340800-76347200	Enhancers	HepG2	liver
46	chr13:76341000-76343800	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr13:76341200-76343400	Weak transcription	Liver	Liver
48	chr13:76341200-76346000	Weak transcription	HUVEC	blood vessel
49	chr13:76341400-76342600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr13:76341600-76342200	Enhancers	Rectal Mucosa Donor 31	rectum

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