Variant report

Variant	rs12032961
Chromosome Location	chr1:225724989-225724990
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:225724327..225726333-chr1:226183688..226185527,2	MCF-7	breast:
2	chr1:225724969..225726561-chr1:225797392..225799589,2	MCF-7	breast:
3	chr1:225724439..225726083-chr1:225840389..225843156,2	MCF-7	breast:
4	chr1:225718758..225721706-chr1:225723433..225725364,3	K562	blood:
5	chr1:225724215..225726983-chr1:226108723..226110957,2	K562	blood:
6	chr1:225713990..225716472-chr1:225723399..225725793,2	K562	blood:

Variant related genes	Relation type
ENSG00000154380	Chromatin interaction
ENSG00000143811	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10799312	0.80[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs10799320	0.97[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs11588279	0.83[CHB][hapmap]
rs12034829	0.81[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];0.94[YRI][hapmap];0.88[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs12742313	0.81[ASN][1000 genomes]
rs1340865	0.92[CHB][hapmap]
rs1771316	0.88[YRI][hapmap]
rs1891000	0.81[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];0.88[YRI][hapmap];0.82[ASN][1000 genomes]
rs2039620	0.87[AFR][1000 genomes]
rs2066233	0.83[CHB][hapmap]
rs3766930	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs3856157	0.85[ASN][1000 genomes]
rs3893032	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs499782	1.00[CHB][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs6426075	0.92[CHB][hapmap];0.83[JPT][hapmap]
rs7529690	0.91[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs7536925	0.81[ASN][1000 genomes]
rs7548473	0.81[ASN][1000 genomes]
rs7550784	0.81[ASN][1000 genomes]
rs7552953	0.85[ASN][1000 genomes]
rs9426126	0.96[AFR][1000 genomes];0.83[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	chr1:225700000-225726400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr1:225700000-225726400	Weak transcription	HMEC	breast
3	chr1:225701400-225727200	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr1:225701400-225744400	Weak transcription	HUVEC	blood vessel
5	chr1:225701400-225747000	Weak transcription	Hela-S3	cervix
6	chr1:225705600-225747400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr1:225705800-225726600	Weak transcription	NHEK	skin
8	chr1:225707200-225726600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr1:225707200-225755000	Weak transcription	Gastric	stomach
10	chr1:225707400-225726600	Weak transcription	Brain Angular Gyrus	brain
11	chr1:225711400-225726600	Weak transcription	Fetal Brain Female	brain
12	chr1:225712400-225729600	Weak transcription	Right Ventricle	heart
13	chr1:225714800-225729600	Weak transcription	Ovary	ovary
14	chr1:225716800-225726400	Weak transcription	Left Ventricle	heart
15	chr1:225716800-225726400	Weak transcription	Psoas Muscle	Psoas
16	chr1:225717600-225726600	Weak transcription	NHDF-Ad	bronchial
17	chr1:225717600-225732000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr1:225717600-225744400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr1:225717800-225725800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr1:225717800-225729600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr1:225717800-225744400	Weak transcription	Fetal Muscle Trunk	muscle
22	chr1:225717800-225745000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr1:225717800-225747400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr1:225717800-225747400	Weak transcription	Fetal Stomach	stomach
25	chr1:225717800-225758200	Weak transcription	HepG2	liver
26	chr1:225718200-225727000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr1:225718400-225726800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr1:225718400-225732600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr1:225718400-225756400	Weak transcription	NHLF	lung
30	chr1:225718800-225726600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr1:225719000-225725200	Weak transcription	Brain Substantia Nigra	brain
32	chr1:225719000-225728000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr1:225719800-225727000	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr1:225719800-225730400	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr1:225720000-225726600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr1:225721000-225728600	Weak transcription	Fetal Brain Male	brain
37	chr1:225721200-225725000	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr1:225721400-225725000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr1:225721400-225725400	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr1:225721400-225726600	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr1:225721400-225726600	Weak transcription	HSMMtube	muscle
42	chr1:225721600-225725000	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr1:225721600-225725400	Weak transcription	Brain Germinal Matrix	brain
44	chr1:225721600-225735200	Weak transcription	HSMM	muscle
45	chr1:225721800-225726600	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr1:225722000-225725000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
47	chr1:225722000-225725000	Weak transcription	Brain Hippocampus Middle	brain
48	chr1:225722000-225726400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr1:225722000-225726600	Weak transcription	Fetal Heart	heart
50	chr1:225722000-225727200	Weak transcription	Skeletal Muscle Male	skeletal muscle

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