Variant report

Variant	rs2047102
Chromosome Location	chr12:49486219-49486220
allele	G/T
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:49484529..49486951-chr12:49524978..49527163,2	MCF-7	breast:
2	chr12:49453076..49457977-chr12:49485062..49491403,12	K562	blood:
3	chr12:49483859..49489908-chr12:49657302..49662649,9	K562	blood:
4	chr12:49482462..49486545-chr12:49487319..49491529,4	MCF-7	breast:
5	chr12:49484670..49486982-chr12:49502782..49505716,3	MCF-7	breast:
6	chr12:49485049..49487890-chr12:49497361..49499266,3	K562	blood:
7	chr12:49483859..49487327-chr12:49657616..49660606,5	K562	blood:
8	chr12:49460491..49475559-chr12:49480736..49489831,23	K562	blood:
9	chr12:49447251..49459518-chr12:49480338..49487981,17	K562	blood:
10	chr12:49478072..49490419-chr12:49518907..49527034,52	K562	blood:
11	chr12:49477289..49493962-chr12:49512467..49528127,64	K562	blood:
12	chr12:49481573..49488751-chr12:49501255..49506032,14	K562	blood:

No data

Variant related genes	Relation type
ENSG00000139636	Chromatin interaction
ENSG00000123416	Chromatin interaction
ENSG00000258017	Chromatin interaction
ENSG00000167548	Chromatin interaction
ENSG00000167550	Chromatin interaction
ENSG00000200309	Chromatin interaction
ENSG00000258101	Chromatin interaction
ENSG00000139549	Chromatin interaction
ENSG00000167553	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs17123627	1.00[JPT][hapmap]

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	nsv1051161	chr12:49314550-49828473	Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
2	nsv541489	chr12:49314550-49828473	Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
3	nsv1036452	chr12:49376285-49867760	Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	315 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49482000-49486600	Bivalent Enhancer	Fetal Brain Male	brain
2	chr12:49482800-49499200	Weak transcription	Hela-S3	cervix
3	chr12:49483400-49486800	Bivalent Enhancer	Liver	Liver
4	chr12:49483400-49487400	Bivalent Enhancer	Fetal Heart	heart
5	chr12:49483600-49488800	Bivalent Enhancer	Fetal Lung	lung
6	chr12:49483800-49488800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
7	chr12:49484000-49486600	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
8	chr12:49484200-49486600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
9	chr12:49484400-49486400	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
10	chr12:49484400-49486400	Bivalent Enhancer	Primary B cells from cord blood	blood
11	chr12:49484400-49486400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
12	chr12:49484400-49486600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
13	chr12:49484400-49489000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
14	chr12:49484400-49489000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
15	chr12:49484800-49486400	Bivalent Enhancer	Esophagus	oesophagus
16	chr12:49485000-49486400	Flanking Active TSS	Brain Substantia Nigra	brain
17	chr12:49485000-49486400	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
18	chr12:49485000-49486600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr12:49485000-49486600	Bivalent Enhancer	Left Ventricle	heart
20	chr12:49485400-49486400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
21	chr12:49485400-49486400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
22	chr12:49485400-49486400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
23	chr12:49485400-49486400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr12:49485400-49486400	Flanking Bivalent TSS/Enh	Brain Anterior Caudate	brain
25	chr12:49485400-49486400	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
26	chr12:49485400-49486400	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
27	chr12:49485400-49486400	Flanking Bivalent TSS/Enh	Brain Dorsolateral Prefrontal Cortex	brain
28	chr12:49485400-49486600	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr12:49485400-49486600	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr12:49485400-49486600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr12:49485400-49486600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr12:49485400-49486600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr12:49485400-49486800	Flanking Active TSS	HUVEC	blood vessel
34	chr12:49485600-49486400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
35	chr12:49485600-49486400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr12:49485600-49486400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
37	chr12:49485600-49486400	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr12:49485600-49486400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr12:49485600-49486400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr12:49485600-49486400	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
41	chr12:49485600-49486400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
42	chr12:49485600-49486400	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
43	chr12:49485600-49486400	Bivalent Enhancer	GM12878-XiMat	blood
44	chr12:49485600-49486400	Active TSS	HSMM	muscle
45	chr12:49485600-49486400	Flanking Bivalent TSS/Enh	Osteobl	bone
46	chr12:49485600-49486600	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
47	chr12:49485600-49486600	Flanking Active TSS	Right Ventricle	heart
48	chr12:49485600-49486600	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
49	chr12:49485600-49486600	Flanking Bivalent TSS/Enh	HepG2	liver
50	chr12:49485600-49486600	Bivalent Enhancer	NHDF-Ad	bronchial

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