Variant report

Variant	rs2235404
Chromosome Location	chr6:11754835-11754836
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:11743683..11746205-chr6:11753336..11755527,2	K562	blood:
2	chr6:11750475..11752074-chr6:11754495..11757382,2	K562	blood:
3	chr6:11754440..11757248-chr6:11757537..11760233,3	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs105924	0.90[ASN][1000 genomes]
rs12665068	0.93[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs210896	0.93[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs210897	0.90[ASN][1000 genomes]
rs210903	0.93[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs2235417	0.93[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2235421	0.93[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2294429	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3765253	0.93[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4711401	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4713873	0.87[JPT][hapmap];0.82[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs7747449	0.89[ASN][1000 genomes]
rs9296142	0.93[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs9368951	1.00[CEU][hapmap]
rs9368952	1.00[CEU][hapmap]
rs9394369	1.00[CEU][hapmap]
rs9394370	1.00[CEU][hapmap]
rs9469927	0.88[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:29 , 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	chr6:11739000-11755000	Weak transcription	HMEC	breast
4	chr6:11742000-11755000	Weak transcription	HSMM	muscle
5	chr6:11749600-11755000	Enhancers	Fetal Intestine Small	intestine
6	chr6:11750800-11755000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr6:11752400-11757800	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr6:11753000-11757800	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr6:11753000-11759200	Weak transcription	Stomach Mucosa	stomach
10	chr6:11753000-11760000	Weak transcription	Small Intestine	intestine
11	chr6:11753200-11759200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr6:11753200-11763800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr6:11753600-11758000	Weak transcription	Duodenum Mucosa	Duodenum
14	chr6:11753800-11755200	Enhancers	Fetal Intestine Large	intestine
15	chr6:11754000-11755000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr6:11754000-11755400	Flanking Active TSS	NHEK	skin
17	chr6:11754000-11756000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr6:11754200-11756600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr6:11754400-11756000	Enhancers	NHDF-Ad	bronchial
20	chr6:11754400-11756400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr6:11754600-11755800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr6:11754600-11756000	Enhancers	Muscle Satellite Cultured Cells	--
23	chr6:11754800-11755200	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr6:11754800-11755200	Flanking Active TSS	HUVEC	blood vessel
25	chr6:11754800-11755800	Enhancers	Sigmoid Colon	Sigmoid Colon
26	chr6:11754800-11755800	Enhancers	NH-A	brain
27	chr6:11754800-11756200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr6:11754800-11756200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr6:11754800-11756200	Enhancers	Osteobl	bone

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