Variant report

Variant	rs12614028
Chromosome Location	chr2:10423953-10423954
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:10423049..10425763-chr20:46130120..46132260,2	MCF-7	breast:
2	chr2:10423718..10426925-chr2:10546888..10550753,3	MCF-7	breast:
3	chr2:10423354..10425763-chr2:10586960..10588617,2	K562	blood:
4	chr2:10423331..10426574-chr2:10438305..10440403,3	K562	blood:
5	chr2:10414107..10415744-chr2:10422290..10425033,2	K562	blood:
6	chr2:10410318..10412062-chr2:10423255..10425080,2	K562	blood:
7	chr2:10407016..10409073-chr2:10423584..10425357,2	K562	blood:
8	chr2:10421994..10428607-chr2:10439137..10445249,17	MCF-7	breast:
9	chr2:10421389..10428688-chr2:10440606..10446723,13	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000115756	Chromatin interaction
ENSG00000206633	Chromatin interaction
ENSG00000115758	Chromatin interaction
ENSG00000124151	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10929652	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11684484	0.90[CEU][hapmap];0.92[EUR][1000 genomes]
rs1989563	0.94[ASN][1000 genomes]
rs4669565	0.82[ASN][1000 genomes]
rs4669566	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6432085	0.89[CEU][hapmap];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[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	nsv530829	chr2:10357105-10655131	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
2	nsv873639	chr2:10372061-10475308	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	esv2762357	chr2:10401309-10426323	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10418400-10424800	Weak transcription	Right Ventricle	heart
2	chr2:10418800-10424600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr2:10419200-10424000	Weak transcription	Primary B cells from cord blood	blood
4	chr2:10419200-10424600	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr2:10419200-10424800	Weak transcription	Primary hematopoietic stem cells	blood
6	chr2:10419200-10425400	Weak transcription	Colonic Mucosa	Colon
7	chr2:10419600-10425400	Weak transcription	Pancreas	Pancrea
8	chr2:10420400-10425800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr2:10421600-10426200	Enhancers	K562	blood
10	chr2:10421800-10429400	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr2:10422000-10425600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr2:10422000-10427200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr2:10422200-10425400	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr2:10422200-10425600	Enhancers	HSMM	muscle
15	chr2:10422200-10427000	Enhancers	NHDF-Ad	bronchial
16	chr2:10422200-10427800	Enhancers	HMEC	breast
17	chr2:10422400-10425600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr2:10422400-10425600	Enhancers	A549	lung
19	chr2:10422400-10426400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr2:10422400-10426800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr2:10422400-10427000	Enhancers	NH-A	brain
22	chr2:10422400-10427000	Enhancers	Osteobl	bone
23	chr2:10422600-10424000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr2:10422600-10424000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr2:10422600-10424000	Enhancers	Fetal Intestine Large	intestine
26	chr2:10422600-10424000	Enhancers	NHEK	skin
27	chr2:10422600-10424000	Enhancers	NHLF	lung
28	chr2:10422600-10425800	Enhancers	Brain Hippocampus Middle	brain
29	chr2:10422600-10426800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
30	chr2:10422600-10427000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr2:10422800-10424000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr2:10422800-10424000	Enhancers	Stomach Mucosa	stomach
33	chr2:10422800-10424000	Enhancers	HSMMtube	muscle
34	chr2:10422800-10424200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr2:10422800-10424400	Weak transcription	Liver	Liver
36	chr2:10422800-10426000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr2:10422800-10427200	Enhancers	Adipose Nuclei	Adipose
38	chr2:10422800-10427400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr2:10422800-10427400	Enhancers	Brain Inferior Temporal Lobe	brain
40	chr2:10422800-10427400	Enhancers	Brain Substantia Nigra	brain
41	chr2:10422800-10427600	Enhancers	Brain Anterior Caudate	brain
42	chr2:10422800-10428000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr2:10423000-10424200	Flanking Active TSS	Hela-S3	cervix
44	chr2:10423000-10424400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr2:10423000-10425200	Enhancers	HepG2	liver
46	chr2:10423000-10425600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr2:10423000-10426400	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr2:10423000-10426400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr2:10423000-10426800	Enhancers	HUVEC	blood vessel
50	chr2:10423000-10427400	Enhancers	Brain Cingulate Gyrus	brain

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