Variant report

Variant	rs2235410
Chromosome Location	chr6:11750519-11750520
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:11748843..11751736-chr6:11752241..11754042,2	K562	blood:
2	chr6:11748737..11750639-chr6:11757838..11760517,2	K562	blood:
3	chr6:11745914..11747958-chr6:11748915..11751495,2	MCF-7	breast:
4	chr6:11750475..11752074-chr6:11754495..11757382,2	K562	blood:
5	chr6:11743986..11745912-chr6:11747510..11751154,3	MCF-7	breast:

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

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

rs_ID	r²[population]
rs12175671	0.84[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs12175871	0.84[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs12529085	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2076185	0.87[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2076186	0.82[CHB][hapmap];0.86[JPT][hapmap];0.90[ASN][1000 genomes]
rs2076187	0.84[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs210895	0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2235391	0.85[CEU][hapmap];0.88[EUR][1000 genomes]
rs2235395	0.92[CEU][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2235406	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2235412	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2235415	0.96[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2235416	0.96[CHB][hapmap];1.00[JPT][hapmap]
rs2235426	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs2281127	0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2294418	1.00[CEU][hapmap];0.86[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2294420	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3765254	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs61439239	0.90[ASN][1000 genomes]
rs6936922	0.84[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs849013	0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs9348960	0.84[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs9366875	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs9368847	0.89[ASN][1000 genomes]
rs9368869	0.85[CEU][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9380473	0.83[ASN][1000 genomes]
rs9380512	0.85[CEU][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9380513	0.92[CEU][hapmap];0.89[EUR][1000 genomes]
rs9394271	0.83[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs9394301	0.92[CEU][hapmap];0.89[EUR][1000 genomes]
rs9394302	0.85[CEU][hapmap];0.89[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: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	chr6:11736200-11752400	Weak transcription	NHEK	skin
4	chr6:11736200-11754800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr6:11736600-11750600	Weak transcription	Stomach Mucosa	stomach
6	chr6:11738600-11762000	Weak transcription	Gastric	stomach
7	chr6:11739000-11755000	Weak transcription	HMEC	breast
8	chr6:11739600-11751800	Weak transcription	HUVEC	blood vessel
9	chr6:11742000-11755000	Weak transcription	HSMM	muscle
10	chr6:11744800-11754400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr6:11745400-11751200	Weak transcription	Pancreas	Pancrea
12	chr6:11745400-11752800	Weak transcription	Aorta	Aorta
13	chr6:11745800-11754200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr6:11748800-11752800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr6:11748800-11753400	Enhancers	Fetal Intestine Large	intestine
16	chr6:11749000-11751200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr6:11749600-11755000	Enhancers	Fetal Intestine Small	intestine
18	chr6:11749800-11754000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr6:11750000-11752800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr6:11750200-11752600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr6:11750200-11753000	Enhancers	Duodenum Mucosa	Duodenum
22	chr6:11750200-11753000	Enhancers	Small Intestine	intestine
23	chr6:11750400-11750800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr6:11750400-11752400	Enhancers	Rectal Mucosa Donor 29	rectum
25	chr6:11750400-11753000	Enhancers	Rectal Mucosa Donor 31	rectum

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