Variant report

Variant	rs6695626
Chromosome Location	chr1:186119967-186119968
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:186119849-186120025	ProgFib	skin:	n/a	n/a
2	STAT3	chr1:186119911-186120164	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:186110390..186113261-chr1:186118377..186120080,2	MCF-7	breast:
2	chr1:186113945..186115888-chr1:186118422..186120603,2	MCF-7	breast:
3	chr1:186114622..186118208-chr1:186119499..186122583,5	MCF-7	breast:

Variant related genes	Relation type
HMCN1	TF binding region

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10157843	1.00[CEU][hapmap]
rs10489717	1.00[CEU][hapmap]
rs10489718	1.00[CEU][hapmap]
rs10489752	1.00[CEU][hapmap]
rs10911787	1.00[CEU][hapmap]
rs10911788	1.00[CEU][hapmap]
rs10911789	1.00[CEU][hapmap]
rs11576597	0.83[EUR][1000 genomes]
rs11581389	0.83[EUR][1000 genomes]
rs11584685	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11586165	1.00[EUR][1000 genomes]
rs11589455	1.00[CEU][hapmap]
rs11803845	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12067376	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs12088571	1.00[CEU][hapmap]
rs16824945	1.00[CEU][hapmap]
rs16825012	1.00[CEU][hapmap];0.94[YRI][hapmap];0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16825020	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs16825022	1.00[CEU][hapmap]
rs16825024	1.00[CEU][hapmap]
rs41317473	0.83[EUR][1000 genomes]
rs41317489	1.00[EUR][1000 genomes]
rs41317491	1.00[EUR][1000 genomes]
rs41397650	1.00[CEU][hapmap]
rs4288554	1.00[CEU][hapmap]
rs6672327	1.00[CEU][hapmap]
rs6693069	0.82[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs72707448	1.00[EUR][1000 genomes]
rs72707452	1.00[EUR][1000 genomes]
rs72707455	1.00[EUR][1000 genomes]
rs72707459	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72707472	1.00[EUR][1000 genomes]
rs72707476	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72718888	0.83[EUR][1000 genomes]
rs72718900	0.83[EUR][1000 genomes]
rs72720904	1.00[EUR][1000 genomes]
rs72720910	1.00[EUR][1000 genomes]
rs72720911	1.00[EUR][1000 genomes]
rs74134301	1.00[ASN][1000 genomes]
rs74136048	1.00[ASN][1000 genomes]
rs7518663	1.00[EUR][1000 genomes]
rs7527214	1.00[CEU][hapmap]
rs7539719	1.00[CEU][hapmap]
rs7546152	1.00[CEU][hapmap]
rs7552194	1.00[CEU][hapmap]
rs9661710	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3424090	chr1:185679718-186270877	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv1004481	chr1:186095854-186750968	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	nsv535223	chr1:186095854-186750968	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:186046400-186135200	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr1:186073000-186121400	Weak transcription	NH-A	brain
3	chr1:186080400-186121400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr1:186109000-186121400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr1:186109200-186124600	Weak transcription	Rectal Smooth Muscle	rectum
6	chr1:186109400-186121200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr1:186109600-186121200	Weak transcription	Osteobl	bone
8	chr1:186109800-186121400	Weak transcription	NHDF-Ad	bronchial
9	chr1:186109800-186121600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr1:186110000-186121200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr1:186112600-186122000	Weak transcription	Colon Smooth Muscle	Colon
12	chr1:186113200-186124200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr1:186113800-186135800	Weak transcription	Ovary	ovary
14	chr1:186114000-186123200	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr1:186114600-186120000	Strong transcription	Liver	Liver
16	chr1:186114600-186160800	Weak transcription	Fetal Kidney	kidney
17	chr1:186115000-186121200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr1:186115400-186135400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr1:186115600-186121200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr1:186116000-186121800	Weak transcription	Left Ventricle	heart
21	chr1:186116400-186122800	Weak transcription	Adipose Nuclei	Adipose
22	chr1:186116400-186135400	Weak transcription	Aorta	Aorta
23	chr1:186116600-186120800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr1:186116600-186135400	Weak transcription	Lung	lung
25	chr1:186117200-186135800	Weak transcription	Fetal Lung	lung
26	chr1:186118600-186120200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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