Variant report

Variant	rs2294417
Chromosome Location	chr6:11759417-11759418
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:11748737..11750639-chr6:11757838..11760517,2	K562	blood:
2	chr6:11740535..11742898-chr6:11758594..11760126,2	K562	blood:
3	chr6:11754440..11757248-chr6:11757537..11760233,3	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs169791	0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs172405	0.95[GIH][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs2076184	0.90[JPT][hapmap]
rs210892	0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs210901	0.90[JPT][hapmap]
rs210902	0.90[JPT][hapmap]
rs210906	0.90[JPT][hapmap]
rs210924	0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs210930	0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs2235398	0.95[CEU][hapmap];0.83[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.87[MEX][hapmap];0.82[TSI][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2235399	1.00[CEU][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2235400	0.95[CEU][hapmap];0.83[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.87[MEX][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2235401	0.95[CEU][hapmap];0.83[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.87[MEX][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2235402	0.95[CEU][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2235403	0.95[CEU][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2235405	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2235407	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2235409	0.95[CEU][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2235413	0.80[JPT][hapmap]
rs2254655	0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs2254668	0.95[GIH][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs2281126	0.95[CEU][hapmap];0.90[JPT][hapmap];0.88[EUR][1000 genomes]
rs2294423	0.95[GIH][hapmap];0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs2294424	0.95[GIH][hapmap];0.90[JPT][hapmap];0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4713831	0.90[JPT][hapmap]
rs6927223	0.95[CEU][hapmap];0.83[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];0.87[MEX][hapmap];0.82[TSI][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs932343	0.80[JPT][hapmap]
rs9368864	0.95[CEU][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9380504	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9394268	0.90[JPT][hapmap]
rs9469986	0.95[GIH][hapmap];0.95[JPT][hapmap];0.81[EUR][1000 genomes];0.82[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

No data

Chromatin state (count:24 , 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	chr6:11753000-11760000	Weak transcription	Small Intestine	intestine
4	chr6:11753200-11763800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr6:11755400-11759800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr6:11755800-11768400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr6:11756800-11760400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr6:11758400-11760000	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr6:11758400-11761400	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr6:11758600-11762000	Weak transcription	HMEC	breast
11	chr6:11758600-11762400	Weak transcription	Spleen	Spleen
12	chr6:11759000-11759600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr6:11759000-11759600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr6:11759000-11759600	Enhancers	NHEK	skin
15	chr6:11759000-11765800	Enhancers	Fetal Intestine Large	intestine
16	chr6:11759200-11759600	Enhancers	Hela-S3	cervix
17	chr6:11759200-11760000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr6:11759200-11764400	Enhancers	Stomach Mucosa	stomach
19	chr6:11759200-11765600	Enhancers	Fetal Intestine Small	intestine
20	chr6:11759400-11759600	Genic enhancers	Duodenum Mucosa	Duodenum
21	chr6:11759400-11759800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr6:11759400-11760400	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr6:11759400-11763600	Weak transcription	Esophagus	oesophagus
24	chr6:11759400-11769600	Weak transcription	Lung	lung

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