Variant report

Variant	rs12636231
Chromosome Location	chr3:112352788-112352789
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:112338141..112343361-chr3:112351475..112354709,4	MCF-7	breast:
2	chr3:112344415..112347197-chr3:112350553..112352868,2	K562	blood:
3	chr3:112350080..112353120-chr3:112708595..112712214,3	K562	blood:
4	chr3:112346448..112348470-chr3:112351397..112354527,3	K562	blood:
5	chr3:112346979..112353983-chr3:112357134..112359925,9	K562	blood:

Variant related genes	Relation type
ENSG00000163607	Chromatin interaction
ENSG00000272844	Chromatin interaction
ENSG00000091986	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12629592	0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16859850	0.92[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.89[ASN][1000 genomes]
rs3856725	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3914201	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4682417	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7635685	1.00[CHB][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	esv3329419	chr3:112236688-112620544	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:112331400-112354800	Weak transcription	Psoas Muscle	Psoas
2	chr3:112336600-112355800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr3:112342600-112359600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr3:112343400-112358000	Weak transcription	Pancreas	Pancrea
5	chr3:112345000-112353800	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr3:112345200-112359400	Weak transcription	Esophagus	oesophagus
7	chr3:112346400-112354000	Weak transcription	Fetal Heart	heart
8	chr3:112346600-112353800	Weak transcription	Aorta	Aorta
9	chr3:112347800-112353200	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr3:112348000-112353200	Enhancers	Rectal Smooth Muscle	rectum
11	chr3:112348200-112358400	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr3:112348600-112357200	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr3:112348800-112353800	Weak transcription	GM12878-XiMat	blood
14	chr3:112348800-112358400	Weak transcription	Hela-S3	cervix
15	chr3:112349000-112354400	Enhancers	A549	lung
16	chr3:112349200-112354400	Weak transcription	Fetal Muscle Leg	muscle
17	chr3:112350000-112353200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr3:112350000-112353600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr3:112350000-112354400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr3:112350000-112354600	Enhancers	H1 Cell Line	embryonic stem cell
21	chr3:112350000-112354600	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr3:112350000-112354600	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr3:112350200-112354400	Flanking Active TSS	NHDF-Ad	bronchial
24	chr3:112351200-112352800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr3:112351200-112353000	Flanking Active TSS	NHLF	lung
26	chr3:112351200-112353800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr3:112351200-112354000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr3:112351200-112355600	Enhancers	Fetal Kidney	kidney
29	chr3:112351400-112353000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr3:112351400-112353000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr3:112351400-112353000	Enhancers	HUVEC	blood vessel
32	chr3:112351400-112354000	Enhancers	Fetal Lung	lung
33	chr3:112351400-112354200	Enhancers	Fetal Stomach	stomach
34	chr3:112351400-112355000	Flanking Active TSS	Adipose Nuclei	Adipose
35	chr3:112351400-112358600	Transcr. at gene 5' and 3'	Osteobl	bone
36	chr3:112351600-112352800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr3:112351600-112352800	Enhancers	Ovary	ovary
38	chr3:112351600-112353400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr3:112351600-112354200	Enhancers	H9 Cell Line	embryonic stem cell
40	chr3:112351800-112352800	Enhancers	NHEK	skin
41	chr3:112351800-112354000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
42	chr3:112351800-112354200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr3:112351800-112354800	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr3:112351800-112355200	Weak transcription	Right Atrium	heart
45	chr3:112351800-112357800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr3:112352000-112352800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr3:112352000-112353000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr3:112352000-112353000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
49	chr3:112352000-112353600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr3:112352000-112356000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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