Variant report

Variant	rs12637953
Chromosome Location	chr3:112395841-112395842
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:112393886..112395917-chr3:112708547..112711075,2	K562	blood:
2	chr3:112382809..112385022-chr3:112393249..112395898,2	MCF-7	breast:
3	chr3:112358207..112360933-chr3:112392611..112397881,5	MCF-7	breast:
4	chr3:112366603..112369302-chr3:112395665..112397709,2	MCF-7	breast:

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

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10511317	1.00[AFR][1000 genomes]
rs12630906	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12634199	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12634229	0.95[ASN][1000 genomes]
rs12637057	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12639600	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13059364	1.00[AFR][1000 genomes]
rs13063173	1.00[AFR][1000 genomes]
rs13078401	1.00[AFR][1000 genomes]
rs13079599	1.00[AFR][1000 genomes]
rs13081265	1.00[AFR][1000 genomes]
rs13086960	1.00[AFR][1000 genomes]
rs13096943	1.00[AFR][1000 genomes]
rs16845068	1.00[AFR][1000 genomes]
rs16845073	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16859758	1.00[AFR][1000 genomes]
rs16859849	1.00[AFR][1000 genomes]
rs16859890	1.00[AFR][1000 genomes]
rs16859897	0.82[CHB][hapmap];0.87[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes]
rs16859911	0.88[CHB][hapmap];0.90[CHD][hapmap];0.80[ASN][1000 genomes]
rs16859916	0.88[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.80[ASN][1000 genomes]
rs16859930	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16859961	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28364588	1.00[AFR][1000 genomes]
rs28364589	1.00[AFR][1000 genomes]
rs34080815	1.00[AFR][1000 genomes]
rs34541731	1.00[AFR][1000 genomes]
rs34829517	1.00[AFR][1000 genomes]
rs34889961	1.00[AFR][1000 genomes]
rs34949685	1.00[AFR][1000 genomes]
rs34962178	1.00[AFR][1000 genomes]
rs35263368	1.00[AFR][1000 genomes]
rs35526995	1.00[AFR][1000 genomes]
rs35931975	1.00[AFR][1000 genomes]
rs36045008	1.00[AFR][1000 genomes]
rs36153507	1.00[AFR][1000 genomes]
rs3736269	1.00[AFR][1000 genomes]
rs3773701	1.00[AFR][1000 genomes]
rs3773704	1.00[AFR][1000 genomes]
rs60646325	1.00[AFR][1000 genomes]
rs66546764	1.00[AFR][1000 genomes]
rs66791711	1.00[AFR][1000 genomes]
rs67021100	1.00[AFR][1000 genomes]
rs71317506	1.00[AFR][1000 genomes]
rs71317507	1.00[AFR][1000 genomes]
rs71317508	1.00[AFR][1000 genomes]
rs72943976	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73229350	1.00[AFR][1000 genomes]
rs73229353	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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
2	nsv432477	chr3:112390310-112603310	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:112389200-112396800	Enhancers	Osteobl	bone
2	chr3:112389600-112396200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr3:112391400-112407800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr3:112392000-112397200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr3:112392200-112397400	Enhancers	Placenta Amnion	Placenta Amnion
6	chr3:112394200-112396400	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr3:112394200-112396400	Enhancers	NH-A	brain
8	chr3:112394200-112396600	Enhancers	NHEK	skin
9	chr3:112394400-112396200	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr3:112394600-112396200	Enhancers	Primary T cells fromperipheralblood	blood
11	chr3:112394800-112396800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
12	chr3:112395000-112396000	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr3:112395000-112396200	Enhancers	Primary T killer memory cells from peripheral blood	blood
14	chr3:112395000-112396200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr3:112395000-112396200	Enhancers	Duodenum Mucosa	Duodenum
16	chr3:112395000-112396400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr3:112395000-112396400	Enhancers	Primary B cells from peripheral blood	blood
18	chr3:112395000-112396400	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr3:112395000-112397800	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr3:112395200-112396000	Enhancers	H1 Cell Line	embryonic stem cell
21	chr3:112395200-112396000	Enhancers	Placenta	Placenta
22	chr3:112395200-112396000	Enhancers	Rectal Smooth Muscle	rectum
23	chr3:112395200-112396200	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr3:112395200-112396200	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr3:112395200-112396200	Enhancers	Primary T cells from cord blood	blood
26	chr3:112395200-112396200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
27	chr3:112395200-112396200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr3:112395200-112396200	Flanking Active TSS	NHDF-Ad	bronchial
29	chr3:112395200-112396400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr3:112395200-112396400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr3:112395200-112396400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
32	chr3:112395200-112396400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
33	chr3:112395200-112396600	Enhancers	Primary B cells from cord blood	blood
34	chr3:112395200-112396600	Enhancers	HSMM	muscle
35	chr3:112395200-112397600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr3:112395200-112397600	Enhancers	NHLF	lung
37	chr3:112395400-112396000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr3:112395400-112396000	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr3:112395400-112396000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
40	chr3:112395400-112396000	Enhancers	Thymus	Thymus
41	chr3:112395400-112396000	Flanking Active TSS	HUVEC	blood vessel
42	chr3:112395400-112396200	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr3:112395400-112396200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr3:112395400-112396200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr3:112395400-112396200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr3:112395400-112396200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr3:112395400-112396200	Enhancers	Stomach Mucosa	stomach
48	chr3:112395400-112396400	Enhancers	Adipose Nuclei	Adipose
49	chr3:112395400-112396400	Flanking Active TSS	HSMMtube	muscle
50	chr3:112395400-112396600	Enhancers	Primary hematopoietic stem cells	blood

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