Variant report

Variant	rs12124505
Chromosome Location	chr1:171188532-171188533
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:171187797..171189835-chr1:171191564..171194285,2	MCF-7	breast:
2	chr1:171182864..171185763-chr1:171186408..171189341,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000225243	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10912667	0.89[ASN][1000 genomes]
rs12121072	1.00[ASN][1000 genomes]
rs12126946	1.00[ASN][1000 genomes]
rs2020870	0.81[ASN][1000 genomes]
rs2072756	1.00[ASN][1000 genomes]
rs2075989	1.00[ASN][1000 genomes]
rs28369802	0.86[ASN][1000 genomes]
rs28369803	0.86[ASN][1000 genomes]
rs28369818	0.90[ASN][1000 genomes]
rs28369863	0.97[ASN][1000 genomes]
rs28369865	0.98[ASN][1000 genomes]
rs28369918	1.00[ASN][1000 genomes]
rs28384819	1.00[ASN][1000 genomes]
rs6662994	0.90[ASN][1000 genomes]
rs6662995	0.90[ASN][1000 genomes]
rs7518693	0.92[ASN][1000 genomes]
rs7519117	0.95[ASN][1000 genomes]
rs7527067	1.00[ASN][1000 genomes]
rs7527478	1.00[ASN][1000 genomes]
rs7539639	0.98[ASN][1000 genomes]
rs7542361	0.98[ASN][1000 genomes]
rs7551282	1.00[ASN][1000 genomes]
rs7556029	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001228	chr1:170885787-171452579	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
2	esv14617	chr1:171016086-171726961	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv1005902	chr1:171036690-171254916	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
4	nsv535203	chr1:171036690-171254916	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
5	esv10193	chr1:171128845-171414611	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv831882	chr1:171166224-171326083	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171169800-171189800	Weak transcription	Right Atrium	heart
2	chr1:171183000-171189800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr1:171183400-171189800	Weak transcription	Left Ventricle	heart
4	chr1:171185400-171189000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:171185800-171189200	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr1:171186600-171189000	Enhancers	NHEK	skin
7	chr1:171186600-171189200	Enhancers	HMEC	breast
8	chr1:171186800-171188800	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr1:171186800-171189200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr1:171186800-171189600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr1:171186800-171190200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr1:171186800-171190200	Enhancers	Placenta	Placenta
13	chr1:171187000-171189200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr1:171187200-171188800	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr1:171187200-171189600	Enhancers	Adipose Nuclei	Adipose
16	chr1:171187200-171190400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr1:171187400-171188600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr1:171187400-171188800	Enhancers	Muscle Satellite Cultured Cells	--
19	chr1:171187400-171189800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr1:171187600-171188800	Enhancers	Brain Substantia Nigra	brain
21	chr1:171187600-171189200	Enhancers	Osteobl	bone
22	chr1:171187600-171189400	Enhancers	Fetal Stomach	stomach
23	chr1:171187600-171189600	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr1:171187600-171190400	Enhancers	Stomach Mucosa	stomach
25	chr1:171187800-171188600	Enhancers	Stomach Smooth Muscle	stomach
26	chr1:171187800-171188800	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr1:171187800-171189000	Enhancers	NH-A	brain
28	chr1:171187800-171189400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr1:171187800-171189600	Enhancers	Fetal Lung	lung
30	chr1:171187800-171189600	Enhancers	NHDF-Ad	bronchial
31	chr1:171187800-171189800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr1:171187800-171190000	Enhancers	Brain Hippocampus Middle	brain
33	chr1:171187800-171191400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr1:171188000-171188800	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr1:171188000-171188800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr1:171188000-171188800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr1:171188000-171188800	Weak transcription	Aorta	Aorta
38	chr1:171188000-171188800	Weak transcription	Fetal Muscle Leg	muscle
39	chr1:171188000-171189000	Enhancers	H1 Cell Line	embryonic stem cell
40	chr1:171188000-171189400	Enhancers	NHLF	lung
41	chr1:171188000-171189600	Weak transcription	Fetal Muscle Trunk	muscle
42	chr1:171188000-171189800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr1:171188000-171189800	Weak transcription	Psoas Muscle	Psoas
44	chr1:171188000-171192200	Weak transcription	Pancreas	Pancrea
45	chr1:171188200-171188600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr1:171188200-171189200	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr1:171188200-171189200	Enhancers	Duodenum Smooth Muscle	Duodenum
48	chr1:171188200-171189200	Weak transcription	Fetal Heart	heart
49	chr1:171188200-171189600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
50	chr1:171188400-171188600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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