Variant report

Variant	rs12695388
Chromosome Location	chr3:119235102-119235103
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:119182245..119183869-chr3:119232847..119235676,2	MCF-7	breast:
2	chr3:119219701..119222345-chr3:119233370..119236233,2	K562	blood:
3	chr3:119165766..119167909-chr3:119234592..119236093,2	MCF-7	breast:
4	chr3:119216267..119219022-chr3:119234970..119238819,4	MCF-7	breast:
5	chr3:119231563..119234574-chr3:119234818..119238744,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000176142	Chromatin interaction
ENSG00000113845	Chromatin interaction
ENSG00000272662	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1131265	0.90[LWK][hapmap];0.94[YRI][hapmap]
rs13075568	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1523311	0.92[ASN][1000 genomes]
rs2293370	0.90[LWK][hapmap];0.95[YRI][hapmap]
rs2629396	0.92[ASN][1000 genomes]
rs4688014	0.85[AFR][1000 genomes]
rs6805225	0.90[ASN][1000 genomes]
rs7611041	0.93[ASN][1000 genomes]
rs7615155	1.00[ASW][hapmap];0.96[CEU][hapmap];0.91[CHB][hapmap];0.93[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9855093	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9869760	0.89[CHB][hapmap];0.91[JPT][hapmap];0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3487859	chr3:118570588-119419623	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	esv3487860	chr3:118570588-119419623	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv829695	chr3:119178890-119367996	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119218000-119236600	Weak transcription	Aorta	Aorta
2	chr3:119218600-119236600	Weak transcription	Esophagus	oesophagus
3	chr3:119219000-119235800	Weak transcription	Fetal Kidney	kidney
4	chr3:119219400-119236800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr3:119219600-119237000	Weak transcription	Small Intestine	intestine
6	chr3:119219800-119235800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr3:119219800-119239200	Strong transcription	HUES64 Cell Line	embryonic stem cell
8	chr3:119220000-119243600	Strong transcription	HUES6 Cell Line	embryonic stem cell
9	chr3:119220200-119246800	Weak transcription	Stomach Mucosa	stomach
10	chr3:119220800-119243800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr3:119221000-119244600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr3:119221200-119243600	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr3:119221200-119244400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr3:119221400-119245400	Strong transcription	Placenta	Placenta
15	chr3:119221600-119237400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
16	chr3:119221600-119244600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr3:119222000-119245400	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr3:119224000-119245200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr3:119225400-119236000	Weak transcription	Pancreas	Pancrea
20	chr3:119225400-119236600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr3:119226000-119236800	Weak transcription	Right Ventricle	heart
22	chr3:119226000-119245200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr3:119226000-119245200	Strong transcription	Liver	Liver
24	chr3:119226600-119245200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr3:119227000-119235800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr3:119227000-119236800	Weak transcription	Rectal Smooth Muscle	rectum
27	chr3:119227000-119239800	Weak transcription	Psoas Muscle	Psoas
28	chr3:119227400-119245400	Strong transcription	Primary T helper cells fromperipheralblood	blood
29	chr3:119227600-119235200	Weak transcription	Brain Germinal Matrix	brain
30	chr3:119227600-119236000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr3:119227800-119235600	Weak transcription	Brain Angular Gyrus	brain
32	chr3:119227800-119235800	Weak transcription	HUVEC	blood vessel
33	chr3:119227800-119236000	Weak transcription	Thymus	Thymus
34	chr3:119228000-119243600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
35	chr3:119228000-119250000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr3:119229000-119236000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr3:119229200-119240200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr3:119229200-119244600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr3:119229400-119237000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr3:119230000-119235800	Weak transcription	Hela-S3	cervix
41	chr3:119230400-119236000	Strong transcription	Primary hematopoietic stem cells	blood
42	chr3:119230600-119245400	Strong transcription	Rectal Mucosa Donor 29	rectum
43	chr3:119230800-119244400	Strong transcription	Primary T cells fromperipheralblood	blood
44	chr3:119231200-119237800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr3:119231200-119237800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr3:119231200-119244000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr3:119231600-119235200	Strong transcription	Stomach Smooth Muscle	stomach
48	chr3:119231600-119236800	Strong transcription	Fetal Muscle Leg	muscle
49	chr3:119231600-119238200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr3:119231600-119238200	Strong transcription	NHLF	lung

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