Variant report

Variant	rs12566165
Chromosome Location	chr1:225722563-225722564
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:225721262..225723349-chr1:225959536..225961083,2	MCF-7	breast:
2	chr1:225717290..225720018-chr1:225721925..225724393,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs12564648	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12564687	0.89[EUR][1000 genomes]
rs12564945	0.87[ASN][1000 genomes]
rs12565399	0.84[EUR][1000 genomes]
rs12567909	0.95[ASN][1000 genomes]
rs12568642	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16845030	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16845040	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17500644	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1771316	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1841655	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2657568	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2840960	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs55689260	0.82[ASN][1000 genomes]
rs55899644	0.89[EUR][1000 genomes]
rs56250189	0.81[EUR][1000 genomes]
rs58088270	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6665838	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7544335	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7548206	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832714	chr1:225592333-225805396	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS 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 target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:225697400-225722600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:225700000-225726400	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr1:225700000-225726400	Weak transcription	HMEC	breast
4	chr1:225701400-225727200	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr1:225701400-225744400	Weak transcription	HUVEC	blood vessel
6	chr1:225701400-225747000	Weak transcription	Hela-S3	cervix
7	chr1:225705600-225747400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr1:225705800-225726600	Weak transcription	NHEK	skin
9	chr1:225707200-225726600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr1:225707200-225755000	Weak transcription	Gastric	stomach
11	chr1:225707400-225726600	Weak transcription	Brain Angular Gyrus	brain
12	chr1:225711400-225726600	Weak transcription	Fetal Brain Female	brain
13	chr1:225712400-225729600	Weak transcription	Right Ventricle	heart
14	chr1:225714800-225729600	Weak transcription	Ovary	ovary
15	chr1:225716800-225726400	Weak transcription	Left Ventricle	heart
16	chr1:225716800-225726400	Weak transcription	Psoas Muscle	Psoas
17	chr1:225717600-225726600	Weak transcription	NHDF-Ad	bronchial
18	chr1:225717600-225732000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr1:225717600-225744400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr1:225717800-225722800	Weak transcription	NH-A	brain
21	chr1:225717800-225725800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr1:225717800-225729600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr1:225717800-225744400	Weak transcription	Fetal Muscle Trunk	muscle
24	chr1:225717800-225745000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr1:225717800-225747400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr1:225717800-225747400	Weak transcription	Fetal Stomach	stomach
27	chr1:225717800-225758200	Weak transcription	HepG2	liver
28	chr1:225718200-225727000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr1:225718400-225726800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr1:225718400-225732600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr1:225718400-225756400	Weak transcription	NHLF	lung
32	chr1:225718800-225726600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr1:225719000-225725200	Weak transcription	Brain Substantia Nigra	brain
34	chr1:225719000-225728000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr1:225719200-225723800	Enhancers	Fetal Lung	lung
36	chr1:225719600-225724200	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr1:225719800-225727000	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr1:225719800-225730400	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr1:225720000-225723200	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr1:225720000-225726600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr1:225720200-225723000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr1:225720600-225722800	Enhancers	Fetal Intestine Small	intestine
43	chr1:225720600-225722800	Enhancers	A549	lung
44	chr1:225721000-225723000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr1:225721000-225723000	Enhancers	Colon Smooth Muscle	Colon
46	chr1:225721000-225723200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr1:225721000-225728600	Weak transcription	Fetal Brain Male	brain
48	chr1:225721200-225723800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr1:225721200-225725000	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr1:225721400-225722600	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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