Variant report

Variant	rs562083872
Chromosome Location	chr2:39624413-39624414
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:39623495..39626216-chr2:39663954..39666245,2	MCF-7	breast:
2	chr2:39621678..39625449-chr2:39627882..39630825,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000011566	Chromatin interaction
ENSG00000231312	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv581494	chr2:39277851-39626388	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
2	esv1827292	chr2:39385155-39675339	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	esv1812828	chr2:39396457-39675339	Flanking Active TSS Strong transcription Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv997934	chr2:39473548-39751029	Enhancers Strong transcription ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	esv2582384	chr2:39623773-39625293	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:39588000-39630400	Weak transcription	Placenta	Placenta
2	chr2:39603200-39638400	Weak transcription	Hela-S3	cervix
3	chr2:39603400-39625000	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr2:39603400-39626800	Weak transcription	Primary T cells from cord blood	blood
5	chr2:39607000-39626800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr2:39607400-39624800	Weak transcription	Stomach Mucosa	stomach
7	chr2:39607600-39643400	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr2:39608400-39626200	Weak transcription	Brain Substantia Nigra	brain
9	chr2:39609600-39626400	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr2:39610200-39626400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr2:39613800-39630600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr2:39614000-39628000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr2:39615800-39626800	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr2:39616000-39626400	Weak transcription	Gastric	stomach
15	chr2:39617600-39626200	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr2:39617600-39626400	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr2:39617800-39626200	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr2:39617800-39628200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr2:39617800-39628400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr2:39617800-39630600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr2:39618000-39633400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr2:39619200-39629600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr2:39619800-39625600	Enhancers	HepG2	liver
24	chr2:39620000-39629400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr2:39620200-39635600	Weak transcription	Primary hematopoietic stem cells	blood
26	chr2:39620400-39624600	Weak transcription	Fetal Lung	lung
27	chr2:39621000-39624600	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr2:39621800-39624800	Weak transcription	K562	blood
29	chr2:39621800-39628600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr2:39622000-39626000	Weak transcription	Right Atrium	heart
31	chr2:39622000-39626400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr2:39622000-39626400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr2:39622000-39626400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr2:39622000-39626400	Weak transcription	Small Intestine	intestine
35	chr2:39622000-39626600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr2:39622000-39626600	Weak transcription	Pancreas	Pancrea
37	chr2:39622000-39628200	Weak transcription	Right Ventricle	heart
38	chr2:39622000-39628600	Weak transcription	Lung	lung
39	chr2:39622000-39635400	Weak transcription	HSMM	muscle
40	chr2:39622200-39626200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr2:39622200-39626400	Weak transcription	Aorta	Aorta
42	chr2:39622400-39626400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr2:39622400-39626600	Weak transcription	NHLF	lung
44	chr2:39622600-39626200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr2:39622600-39626400	Weak transcription	Brain Cingulate Gyrus	brain
46	chr2:39622600-39626400	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr2:39622600-39626400	Weak transcription	HSMMtube	muscle
48	chr2:39622600-39626400	Weak transcription	Osteobl	bone
49	chr2:39622600-39626800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr2:39622600-39643600	Weak transcription	Brain Germinal Matrix	brain

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