Variant report

Variant	rs2294418
Chromosome Location	chr6:11759376-11759377
allele	A/G
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: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs12175671	0.86[JPT][hapmap];1.00[YRI][hapmap]
rs12175871	0.86[JPT][hapmap];0.85[YRI][hapmap]
rs12529085	1.00[CEU][hapmap];0.91[CHD][hapmap];0.89[GIH][hapmap];0.86[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2076185	0.86[JPT][hapmap];0.83[LWK][hapmap];0.85[YRI][hapmap]
rs2076186	0.90[JPT][hapmap];1.00[YRI][hapmap]
rs2076187	0.86[JPT][hapmap]
rs210895	0.88[CHD][hapmap];0.86[JPT][hapmap]
rs2235391	0.82[ASW][hapmap];0.85[CEU][hapmap];0.92[LWK][hapmap];1.00[MKK][hapmap];0.85[YRI][hapmap];0.87[EUR][1000 genomes]
rs2235395	0.92[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2235406	1.00[CEU][hapmap];0.93[CHD][hapmap];0.89[GIH][hapmap];0.86[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2235410	1.00[CEU][hapmap];0.86[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2235412	0.92[CEU][hapmap];0.81[CHB][hapmap];0.90[CHD][hapmap];0.88[GIH][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2235415	0.86[JPT][hapmap];1.00[YRI][hapmap];0.81[ASN][1000 genomes]
rs2235416	0.86[JPT][hapmap];1.00[YRI][hapmap]
rs2235426	0.86[JPT][hapmap];1.00[YRI][hapmap]
rs2281127	0.88[CHD][hapmap];0.86[JPT][hapmap];0.83[LWK][hapmap];1.00[YRI][hapmap]
rs2294420	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2294426	0.82[YRI][hapmap]
rs3765254	0.86[JPT][hapmap];0.85[YRI][hapmap]
rs6936922	0.86[JPT][hapmap];0.85[YRI][hapmap]
rs849013	0.88[CHD][hapmap];0.86[JPT][hapmap]
rs9348960	0.86[JPT][hapmap];0.85[YRI][hapmap]
rs9366875	0.86[JPT][hapmap];0.85[YRI][hapmap]
rs9368869	0.85[CEU][hapmap];0.85[YRI][hapmap];0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9380512	1.00[ASW][hapmap];0.85[CEU][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.85[YRI][hapmap];0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9380513	0.92[CEU][hapmap];0.85[YRI][hapmap];0.88[EUR][1000 genomes]
rs9394271	0.86[JPT][hapmap];0.85[YRI][hapmap]
rs9394301	0.92[CEU][hapmap];0.85[YRI][hapmap];0.88[EUR][1000 genomes]
rs9394302	0.82[ASW][hapmap];0.85[CEU][hapmap];1.00[MEX][hapmap];0.85[YRI][hapmap];0.88[EUR][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:26 , 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	chr6:11757800-11759400	Strong transcription	Rectal Mucosa Donor 31	rectum
9	chr6:11758000-11759400	Strong transcription	Duodenum Mucosa	Duodenum
10	chr6:11758400-11760000	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr6:11758400-11761400	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr6:11758600-11762000	Weak transcription	HMEC	breast
13	chr6:11758600-11762400	Weak transcription	Spleen	Spleen
14	chr6:11759000-11759400	Enhancers	Esophagus	oesophagus
15	chr6:11759000-11759600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr6:11759000-11759600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr6:11759000-11759600	Enhancers	NHEK	skin
18	chr6:11759000-11765800	Enhancers	Fetal Intestine Large	intestine
19	chr6:11759200-11759400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr6:11759200-11759400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr6:11759200-11759400	ZNF genes & repeats	Lung	lung
22	chr6:11759200-11759400	Enhancers	A549	lung
23	chr6:11759200-11759600	Enhancers	Hela-S3	cervix
24	chr6:11759200-11760000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr6:11759200-11764400	Enhancers	Stomach Mucosa	stomach
26	chr6:11759200-11765600	Enhancers	Fetal Intestine Small	intestine

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