Variant report

Variant	rs2235405
Chromosome Location	chr6:11754744-11754745
allele	A/C
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: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs169791	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs172405	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2076184	0.86[ASN][1000 genomes]
rs210892	1.00[ASN][1000 genomes]
rs210901	0.86[ASN][1000 genomes]
rs210902	0.86[ASN][1000 genomes]
rs210906	0.86[ASN][1000 genomes]
rs210924	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs210930	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2235398	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2235399	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2235400	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2235401	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2235402	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2235403	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2235407	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2235409	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2235413	0.84[ASN][1000 genomes]
rs2254655	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2254668	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2281126	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2294417	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2294423	0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2294424	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4713831	0.86[ASN][1000 genomes]
rs6927223	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9368864	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9380504	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9394268	0.80[ASN][1000 genomes]
rs9469986	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[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:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:11719400-11762200	Weak transcription	Colonic Mucosa	Colon
2	chr6:11735600-11754800	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr6:11736200-11754800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr6:11738600-11762000	Weak transcription	Gastric	stomach
5	chr6:11739000-11755000	Weak transcription	HMEC	breast
6	chr6:11742000-11755000	Weak transcription	HSMM	muscle
7	chr6:11749600-11755000	Enhancers	Fetal Intestine Small	intestine
8	chr6:11750800-11755000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr6:11752400-11757800	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr6:11752800-11754800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr6:11753000-11757800	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr6:11753000-11759200	Weak transcription	Stomach Mucosa	stomach
13	chr6:11753000-11760000	Weak transcription	Small Intestine	intestine
14	chr6:11753200-11754800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr6:11753200-11759200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr6:11753200-11763800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr6:11753600-11758000	Weak transcription	Duodenum Mucosa	Duodenum
18	chr6:11753800-11755200	Enhancers	Fetal Intestine Large	intestine
19	chr6:11754000-11755000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr6:11754000-11755400	Flanking Active TSS	NHEK	skin
21	chr6:11754000-11756000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr6:11754200-11756600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr6:11754400-11754800	Active TSS	HUVEC	blood vessel
24	chr6:11754400-11756000	Enhancers	NHDF-Ad	bronchial
25	chr6:11754400-11756400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr6:11754600-11755800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr6:11754600-11756000	Enhancers	Muscle Satellite Cultured Cells	--

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