Variant report

Variant	rs186554638
Chromosome Location	chr2:73114934-73114935
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:73113720..73115697-chr2:73143241..73144788,2	MCF-7	breast:
2	chr2:73114739..73115657-chr2:73162083..73162771,2	MCF-7	breast:
3	chr2:73113671..73115841-chr2:73142116..73144129,2	MCF-7	breast:
4	chr2:73113851..73116141-chr2:73460063..73461895,2	K562	blood:
5	chr2:73114683..73117579-chr2:73294155..73296243,2	MCF-7	breast:
6	chr2:73114758..73117255-chr2:73338595..73340339,2	MCF-7	breast:
7	chr2:73114860..73117387-chr2:73297045..73298854,2	MCF-7	breast:
8	chr2:73114641..73116374-chr2:73460063..73462016,2	K562	blood:
9	chr2:71772597..71773411-chr2:73114696..73115261,2	MCF-7	breast:
10	chr2:73086659..73087605-chr2:73114661..73115372,2	K562	blood:
11	chr2:73114519..73115299-chr2:73161801..73162747,2	K562	blood:
12	chr2:73113964..73115739-chr2:73439855..73442724,2	MCF-7	breast:
13	chr2:72997707..72998674-chr2:73114643..73115475,6	K562	blood:

No data

Variant related genes	Relation type
ENSG00000135631	Chromatin interaction
ENSG00000144040	Chromatin interaction
ENSG00000135617	Chromatin interaction
ENSG00000272702	Chromatin interaction
ENSG00000135624	Chromatin interaction
ENSG00000135638	Chromatin interaction
ENSG00000135632	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

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	nsv532723	chr2:73088191-73219259	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	esv3377861	chr2:73113469-73116017	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 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	chr2:73113800-73115200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
2	chr2:73113800-73115200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
3	chr2:73113800-73115200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
4	chr2:73113800-73115200	Active TSS	Breast Myoepithelial Primary Cells	Breast
5	chr2:73113800-73115200	Active TSS	Brain Inferior Temporal Lobe	brain
6	chr2:73113800-73115200	Active TSS	Colon Smooth Muscle	Colon
7	chr2:73113800-73115200	Active TSS	Psoas Muscle	Psoas
8	chr2:73113800-73115400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
9	chr2:73113800-73115800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr2:73114000-73115000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr2:73114000-73115000	Bivalent/Poised TSS	Fetal Kidney	kidney
12	chr2:73114000-73115000	Flanking Active TSS	HMEC	breast
13	chr2:73114000-73115200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
14	chr2:73114000-73115200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
15	chr2:73114000-73115200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr2:73114000-73115200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr2:73114000-73115200	Bivalent/Poised TSS	Primary T cells from cord blood	blood
18	chr2:73114000-73115200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
19	chr2:73114000-73115200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr2:73114000-73115200	Active TSS	Brain Angular Gyrus	brain
21	chr2:73114000-73115200	Active TSS	Brain Cingulate Gyrus	brain
22	chr2:73114000-73115200	Active TSS	Rectal Smooth Muscle	rectum
23	chr2:73114000-73115200	Active TSS	Right Atrium	heart
24	chr2:73114000-73115200	Active TSS	HSMMtube	muscle
25	chr2:73114000-73115200	Active TSS	NHLF	lung
26	chr2:73114000-73115400	Active TSS	Aorta	Aorta
27	chr2:73114000-73115600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr2:73114000-73115600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr2:73114000-73115600	Active TSS	Pancreatic Islets	Pancreatic Islet
30	chr2:73114200-73115000	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr2:73114200-73115000	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr2:73114200-73115000	Bivalent/Poised TSS	Primary T helper memory cells from peripheral blood 2	blood
33	chr2:73114200-73115000	Active TSS	Primary T helper naive cells from peripheral blood	blood
34	chr2:73114200-73115000	Bivalent/Poised TSS	Primary T helper naive cells fromperipheralblood	blood
35	chr2:73114200-73115200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
36	chr2:73114200-73115200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr2:73114200-73115200	Active TSS	HUES48 Cell Line	embryonic stem cell
38	chr2:73114200-73115200	Active TSS	iPS-15b Cell Line	embryonic stem cell
39	chr2:73114200-73115200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr2:73114200-73115200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr2:73114200-73115200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr2:73114200-73115200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr2:73114200-73115200	Active TSS	Muscle Satellite Cultured Cells	--
44	chr2:73114200-73115200	Flanking Bivalent TSS/Enh	Primary mononuclear cells fromperipheralblood	Blood
45	chr2:73114200-73115200	Active TSS	Liver	Liver
46	chr2:73114200-73115200	Active TSS	Brain Anterior Caudate	brain
47	chr2:73114200-73115200	Active TSS	Brain Hippocampus Middle	brain
48	chr2:73114200-73115200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
49	chr2:73114200-73115200	Active TSS	Brain Substantia Nigra	brain
50	chr2:73114200-73115200	Active TSS	Colonic Mucosa	Colon

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