Variant report

Variant	rs9469986
Chromosome Location	chr6:11749180-11749181
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	chr6:11743986..11745912-chr6:11747510..11751154,3	MCF-7	breast:
5	chr6:11717348..11719875-chr6:11747463..11750048,2	MCF-7	breast:

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs169791	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs172405	0.94[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];0.96[TSI][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2013368	0.94[CHB][hapmap]
rs2076184	0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs210892	1.00[CHB][hapmap];0.89[CHD][hapmap];0.80[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs210901	0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs210902	0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs210906	0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs210924	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs210925	0.84[ASW][hapmap]
rs210930	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2235398	0.84[ASW][hapmap];0.82[CEU][hapmap];0.89[CHB][hapmap];0.83[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.90[TSI][hapmap];0.83[YRI][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2235399	0.85[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2235400	0.84[ASW][hapmap];0.82[CEU][hapmap];0.89[CHB][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[TSI][hapmap];0.83[YRI][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2235401	0.84[ASW][hapmap];0.82[CEU][hapmap];0.89[CHB][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[TSI][hapmap];0.83[YRI][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2235402	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2235403	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2235405	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2235407	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2235409	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2235413	0.94[CHB][hapmap];0.83[CHD][hapmap];0.86[JPT][hapmap];0.84[ASN][1000 genomes]
rs2235420	0.94[CHB][hapmap]
rs2254655	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2254668	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];0.95[MEX][hapmap];0.96[TSI][hapmap];0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2281126	0.82[CEU][hapmap];0.89[CHB][hapmap];0.95[JPT][hapmap];0.82[YRI][hapmap];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2294417	0.95[GIH][hapmap];0.95[JPT][hapmap];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2294423	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]
rs2294424	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];0.96[TSI][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3734273	0.83[CHB][hapmap]
rs4140558	0.82[MEX][hapmap]
rs4713831	0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs6927223	0.82[CEU][hapmap];0.89[CHB][hapmap];0.83[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.92[MKK][hapmap];0.90[TSI][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6933892	0.83[CHB][hapmap]
rs6934084	0.83[CHB][hapmap]
rs926364	0.94[CHB][hapmap]
rs932343	0.83[CHB][hapmap];0.86[JPT][hapmap]
rs932344	0.83[CHB][hapmap]
rs9368864	0.81[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9380504	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9394268	0.95[JPT][hapmap];0.80[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	chr6:11732400-11750400	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr6:11732800-11750400	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr6:11735600-11754800	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr6:11736200-11752400	Weak transcription	NHEK	skin
6	chr6:11736200-11754800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr6:11736600-11750600	Weak transcription	Stomach Mucosa	stomach
8	chr6:11738600-11762000	Weak transcription	Gastric	stomach
9	chr6:11739000-11755000	Weak transcription	HMEC	breast
10	chr6:11739600-11751800	Weak transcription	HUVEC	blood vessel
11	chr6:11742000-11755000	Weak transcription	HSMM	muscle
12	chr6:11743800-11750200	Weak transcription	Small Intestine	intestine
13	chr6:11744800-11754400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr6:11745200-11749600	Weak transcription	Fetal Intestine Small	intestine
15	chr6:11745400-11750200	Weak transcription	Duodenum Mucosa	Duodenum
16	chr6:11745400-11751200	Weak transcription	Pancreas	Pancrea
17	chr6:11745400-11752800	Weak transcription	Aorta	Aorta
18	chr6:11745800-11754200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr6:11746800-11749200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr6:11748200-11750000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr6:11748400-11749200	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr6:11748400-11750200	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr6:11748600-11749200	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr6:11748600-11749800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr6:11748800-11749200	Enhancers	Placenta	Placenta
26	chr6:11748800-11749400	Enhancers	Monocytes-CD14+_RO01746	blood
27	chr6:11748800-11752800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr6:11748800-11753400	Enhancers	Fetal Intestine Large	intestine
29	chr6:11749000-11751200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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