Variant report

Variant	rs1317171
Chromosome Location	chr6:149363426-149363427
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:149362595..149364685-chr6:149367247..149368840,2	K562	blood:

Extended variants
information (count: 55 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10457074	0.91[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs10872629	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10872630	0.81[JPT][hapmap]
rs10872631	0.87[JPT][hapmap]
rs11755147	0.87[JPT][hapmap]
rs11759315	0.86[JPT][hapmap]
rs12201653	0.87[JPT][hapmap]
rs12211152	0.93[JPT][hapmap]
rs1320575	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17669693	0.87[JPT][hapmap]
rs17732007	0.87[JPT][hapmap]
rs1934217	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1934220	0.87[JPT][hapmap]
rs2275423	0.86[CEU][hapmap]
rs2340752	0.86[CEU][hapmap]
rs2340798	0.91[CEU][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2340801	0.86[CEU][hapmap];0.83[AMR][1000 genomes]
rs2340802	0.82[CEU][hapmap];0.86[GIH][hapmap];0.96[MEX][hapmap];0.83[AMR][1000 genomes]
rs4318907	0.86[CEU][hapmap];0.96[MEX][hapmap];0.84[AMR][1000 genomes]
rs4377808	0.83[AMR][1000 genomes]
rs4897074	0.91[CEU][hapmap]
rs4897078	0.87[JPT][hapmap]
rs6570920	0.86[CEU][hapmap];0.84[AMR][1000 genomes]
rs6570933	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6570934	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6570935	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6901019	0.86[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6901863	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6903827	0.87[JPT][hapmap]
rs6915298	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[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6931675	0.91[CEU][hapmap];0.90[CHB][hapmap];0.84[CHD][hapmap];0.96[MEX][hapmap];0.95[TSI][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6931744	0.82[CEU][hapmap];0.91[GIH][hapmap];0.92[MEX][hapmap]
rs6932386	0.87[JPT][hapmap]
rs6935330	0.82[CEU][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6936176	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6939103	0.87[JPT][hapmap]
rs7738162	0.95[CEU][hapmap];0.85[CHB][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7747463	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7748978	0.88[MEX][hapmap];0.80[AMR][1000 genomes]
rs7756263	0.81[JPT][hapmap]
rs7760242	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7761119	0.86[CEU][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.87[TSI][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7765778	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7772696	0.87[JPT][hapmap]
rs7774887	0.86[CEU][hapmap]
rs7776117	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9285516	0.86[CEU][hapmap];0.85[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9322166	0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs9377187	0.86[CEU][hapmap]
rs9377188	0.92[MEX][hapmap];0.80[AMR][1000 genomes]
rs9399678	0.80[AMR][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	nsv1032690	chr6:149206106-149398712	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv1032319	chr6:149271433-149550525	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv538470	chr6:149271433-149550525	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv830842	chr6:149272321-149427340	Enhancers Bivalent Enhancer ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1317171	C6orf97	cis	cerebellum	SCAN

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:149305400-149381400	Weak transcription	Gastric	stomach
2	chr6:149339400-149364600	Weak transcription	Lung	lung
3	chr6:149341000-149365400	Weak transcription	Right Ventricle	heart
4	chr6:149348000-149367400	Weak transcription	Primary B cells from cord blood	blood
5	chr6:149353800-149367400	Weak transcription	Spleen	Spleen
6	chr6:149353800-149367800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr6:149353800-149369800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr6:149354400-149400600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr6:149354600-149372000	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr6:149354800-149365200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr6:149354800-149366400	Weak transcription	Primary B cells from peripheral blood	blood
12	chr6:149355800-149381600	Weak transcription	Right Atrium	heart
13	chr6:149358200-149365400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr6:149358600-149367000	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr6:149358600-149369000	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr6:149358800-149367200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr6:149358800-149367600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr6:149358800-149368000	Weak transcription	NHLF	lung
19	chr6:149359000-149367200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr6:149359200-149364600	Weak transcription	HSMMtube	muscle
21	chr6:149359200-149365600	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr6:149359200-149365600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr6:149359200-149367200	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr6:149359200-149367600	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr6:149359200-149372000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr6:149359200-149380200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr6:149359200-149380200	Weak transcription	Fetal Muscle Trunk	muscle
28	chr6:149359200-149381400	Weak transcription	Rectal Smooth Muscle	rectum
29	chr6:149359200-149381400	Weak transcription	Stomach Smooth Muscle	stomach
30	chr6:149359200-149381600	Weak transcription	Ovary	ovary
31	chr6:149359200-149383600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr6:149359400-149365200	Weak transcription	Colon Smooth Muscle	Colon
33	chr6:149359400-149366800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr6:149359400-149367600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr6:149359400-149379200	Weak transcription	Fetal Lung	lung
36	chr6:149359600-149367400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr6:149359600-149380200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr6:149361200-149364600	Weak transcription	GM12878-XiMat	blood
39	chr6:149361200-149365600	Weak transcription	Fetal Thymus	thymus
40	chr6:149362600-149385200	Weak transcription	Aorta	Aorta
41	chr6:149362800-149365600	Weak transcription	Pancreas	Pancrea
42	chr6:149362800-149367400	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr6:149362800-149367400	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr6:149362800-149372000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr6:149362800-149401400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr6:149363000-149364800	Weak transcription	Fetal Muscle Leg	muscle
47	chr6:149363000-149366600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr6:149363000-149367400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr6:149363000-149367800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr6:149363000-149367800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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