Variant report

Variant	rs10495790
Chromosome Location	chr2:33719473-33719474
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	chr2:33718664..33721605-chr2:33823247..33825969,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000119812	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12468183	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12468338	1.00[CEU][hapmap];0.91[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12470632	1.00[ASN][1000 genomes]
rs17013131	1.00[CEU][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes]
rs17013132	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[EUR][1000 genomes]
rs17013153	1.00[CEU][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17013160	1.00[CEU][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17594787	1.00[CEU][hapmap];0.84[CHD][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap];0.84[EUR][1000 genomes]
rs17594990	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs62147155	0.86[EUR][1000 genomes]
rs62147157	0.87[EUR][1000 genomes]
rs62148983	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005435	chr2:33136117-33747159	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
2	nsv535624	chr2:33136117-33747159	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
3	esv1829750	chr2:33704194-33740571	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	esv1798854	chr2:33708860-33720009	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	esv3457478	chr2:33716912-33727989	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	esv3457477	chr2:33717011-33728006	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	esv3457479	chr2:33717011-33728006	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv828775	chr2:33717066-33727682	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:33710400-33775400	Weak transcription	Pancreas	Pancrea
2	chr2:33712200-33747600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr2:33714400-33726000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr2:33716000-33721400	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr2:33717000-33720200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr2:33717000-33722200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr2:33717000-33723600	Weak transcription	Lung	lung
8	chr2:33717200-33721600	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr2:33717400-33719600	Genic enhancers	Primary B cells from cord blood	blood
10	chr2:33717800-33720000	Weak transcription	Fetal Heart	heart
11	chr2:33718400-33721000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr2:33718400-33722400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr2:33718400-33724200	Weak transcription	Right Atrium	heart
14	chr2:33718600-33719600	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr2:33718600-33720800	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr2:33718800-33720200	Weak transcription	Left Ventricle	heart
17	chr2:33718800-33720200	Weak transcription	Psoas Muscle	Psoas
18	chr2:33719000-33719600	Active TSS	GM12878-XiMat	blood
19	chr2:33719000-33720000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
20	chr2:33719000-33730200	Enhancers	Primary B cells from peripheral blood	blood
21	chr2:33719200-33719600	Enhancers	A549	lung
22	chr2:33719200-33719800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
23	chr2:33719200-33720200	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr2:33719200-33721000	Enhancers	Right Ventricle	heart
25	chr2:33719200-33721000	Enhancers	NHDF-Ad	bronchial
26	chr2:33719200-33721800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr2:33719200-33725400	Enhancers	Brain Hippocampus Middle	brain
28	chr2:33719400-33719800	Active TSS	Duodenum Mucosa	Duodenum
29	chr2:33719400-33720200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr2:33719400-33720200	Enhancers	Monocytes-CD14+_RO01746	blood
31	chr2:33719400-33721000	Enhancers	Brain Anterior Caudate	brain
32	chr2:33719400-33722400	Enhancers	HUVEC	blood vessel
33	chr2:33719400-33725400	Enhancers	Primary hematopoietic stem cells	blood
34	chr2:33719400-33725400	Enhancers	Primary hematopoietic stem cells short term culture	blood

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