Variant report

Variant	rs2294423
Chromosome Location	chr6:11752628-11752629
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:11751708..11754177-chr6:11766373..11768735,2	K562	blood:
2	chr6:11745145..11747837-chr6:11750791..11752714,2	K562	blood:
3	chr6:11750784..11753771-chr6:12010101..12012661,2	MCF-7	breast:
4	chr6:11748843..11751736-chr6:11752241..11754042,2	K562	blood:

Variant related genes	Relation type
ENSG00000111863	Chromatin interaction
ENSG00000095951	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs169791	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs172405	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2013368	0.94[CHB][hapmap]
rs2076184	0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs210892	1.00[CHB][hapmap];0.91[CHD][hapmap];0.80[GIH][hapmap];0.95[JPT][hapmap];0.99[ASN][1000 genomes]
rs210901	0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs210902	0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs210906	0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs210924	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs210930	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2235398	0.82[CEU][hapmap];0.89[CHB][hapmap];0.91[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.83[TSI][hapmap];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2235399	0.85[CEU][hapmap];0.89[CHB][hapmap];0.95[JPT][hapmap];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2235400	0.82[CEU][hapmap];0.89[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.86[TSI][hapmap];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2235401	0.82[CEU][hapmap];0.89[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.86[TSI][hapmap];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2235402	0.81[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2235403	0.82[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2235405	0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2235407	0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2235409	0.82[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2235413	0.94[CHB][hapmap];0.86[CHD][hapmap];0.83[ASN][1000 genomes]
rs2235420	0.94[CHB][hapmap]
rs2254655	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2254668	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];0.96[TSI][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2281126	0.82[CEU][hapmap];0.89[CHB][hapmap];0.90[JPT][hapmap];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2294417	0.95[GIH][hapmap];0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs2294424	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3734273	0.83[CHB][hapmap]
rs4140558	0.82[MEX][hapmap]
rs4713831	0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs6927223	0.82[CEU][hapmap];0.89[CHB][hapmap];0.91[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];0.83[TSI][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6933892	0.83[CHB][hapmap]
rs6934084	0.83[CHB][hapmap]
rs926364	0.94[CHB][hapmap]
rs932343	0.83[CHB][hapmap];0.81[CHD][hapmap]
rs932344	0.83[CHB][hapmap]
rs9368864	0.81[CEU][hapmap];0.88[CHB][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9380504	0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9394268	0.90[JPT][hapmap]
rs9469986	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[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:25 , 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	chr6:11744800-11754400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr6:11745400-11752800	Weak transcription	Aorta	Aorta
9	chr6:11745800-11754200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr6:11748800-11752800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr6:11748800-11753400	Enhancers	Fetal Intestine Large	intestine
12	chr6:11749600-11755000	Enhancers	Fetal Intestine Small	intestine
13	chr6:11749800-11754000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr6:11750000-11752800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr6:11750200-11753000	Enhancers	Duodenum Mucosa	Duodenum
16	chr6:11750200-11753000	Enhancers	Small Intestine	intestine
17	chr6:11750400-11753000	Enhancers	Rectal Mucosa Donor 31	rectum
18	chr6:11750800-11755000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr6:11752000-11752800	Weak transcription	Stomach Mucosa	stomach
20	chr6:11752200-11753200	Enhancers	NHDF-Ad	bronchial
21	chr6:11752400-11753000	Enhancers	HUVEC	blood vessel
22	chr6:11752400-11753800	Genic enhancers	NHEK	skin
23	chr6:11752400-11757800	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr6:11752600-11753200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr6:11752600-11753600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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