Variant report

Variant	rs9394295
Chromosome Location	chr6:11760259-11760260
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	chr6:11748737..11750639-chr6:11757838..11760517,2	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs12189748	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs12198491	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs12211506	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.87[TSI][hapmap];0.97[ASN][1000 genomes]
rs210890	0.85[CEU][hapmap]
rs210925	0.85[CHB][hapmap]
rs210926	0.85[CEU][hapmap]
rs210931	0.85[CEU][hapmap]
rs210933	0.84[CEU][hapmap]
rs2235396	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.87[TSI][hapmap];0.97[ASN][1000 genomes]
rs2235397	0.93[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];0.97[TSI][hapmap];0.90[YRI][hapmap];0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2235411	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2743953	0.85[CEU][hapmap]
rs2781127	0.85[CEU][hapmap]
rs4713852	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6457810	0.85[CEU][hapmap]
rs6457825	0.85[CHB][hapmap]
rs6908760	1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs6911562	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6938865	0.80[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.81[YRI][hapmap];0.97[ASN][1000 genomes]
rs9368866	0.85[CHB][hapmap];0.84[MEX][hapmap]
rs9380503	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9462058	1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs9469947	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs9469963	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758036	chr6:11679753-11822351	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv2759407	chr6:11679753-11822351	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs9394295	SLC35B3	cis	parietal	SCAN
rs9394295	TBC1D7	cis	parietal	SCAN
rs9394295	ERVFRDE1	cis	parietal	SCAN
rs9394295	CYP2E1	trans	parietal	SCAN

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:11719400-11762200	Weak transcription	Colonic Mucosa	Colon
2	chr6:11738600-11762000	Weak transcription	Gastric	stomach
3	chr6:11753200-11763800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr6:11755800-11768400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr6:11756800-11760400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr6:11758400-11761400	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr6:11758600-11762000	Weak transcription	HMEC	breast
8	chr6:11758600-11762400	Weak transcription	Spleen	Spleen
9	chr6:11759000-11765800	Enhancers	Fetal Intestine Large	intestine
10	chr6:11759200-11764400	Enhancers	Stomach Mucosa	stomach
11	chr6:11759200-11765600	Enhancers	Fetal Intestine Small	intestine
12	chr6:11759400-11760400	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr6:11759400-11763600	Weak transcription	Esophagus	oesophagus
14	chr6:11759400-11769600	Weak transcription	Lung	lung
15	chr6:11759600-11762000	Weak transcription	NHEK	skin
16	chr6:11759600-11762200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr6:11759600-11762600	Weak transcription	A549	lung
18	chr6:11759600-11763400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr6:11759600-11765000	Enhancers	Duodenum Mucosa	Duodenum
20	chr6:11759600-11765800	Weak transcription	Hela-S3	cervix
21	chr6:11759800-11760600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr6:11759800-11761200	Enhancers	Liver	Liver
23	chr6:11759800-11762000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr6:11759800-11764400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr6:11760000-11760400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr6:11760000-11760600	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr6:11760000-11760600	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr6:11760000-11760800	Enhancers	Small Intestine	intestine
29	chr6:11760000-11761000	Enhancers	H9 Cell Line	embryonic stem cell
30	chr6:11760000-11761000	Enhancers	Pancreas	Pancrea
31	chr6:11760000-11761600	Enhancers	K562	blood
32	chr6:11760000-11761800	Enhancers	Sigmoid Colon	Sigmoid Colon
33	chr6:11760000-11763400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr6:11760200-11761000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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