Variant report

Variant	rs139469918
Chromosome Location	chr2:63635708-63635709
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3417336	chr2:62957866-63749654	Strong transcription Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	esv1800788	chr2:63473443-63900292	ZNF genes & repeats Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv834241	chr2:63490262-63668205	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv1002047	chr2:63584797-63648782	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv874234	chr2:63606001-63666590	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv874235	chr2:63622470-63709708	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	esv3382119	chr2:63634350-63660437	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:63597800-63649200	Weak transcription	Fetal Lung	lung
2	chr2:63605000-63642400	Weak transcription	HSMMtube	muscle
3	chr2:63615600-63637000	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr2:63615800-63637000	Weak transcription	Primary hematopoietic stem cells	blood
5	chr2:63621400-63637000	Weak transcription	Fetal Muscle Leg	muscle
6	chr2:63622200-63645400	Weak transcription	Liver	Liver
7	chr2:63624800-63642400	Weak transcription	Left Ventricle	heart
8	chr2:63626800-63636200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr2:63626800-63644000	Weak transcription	Gastric	stomach
10	chr2:63627000-63637600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr2:63627600-63636600	Weak transcription	Colon Smooth Muscle	Colon
12	chr2:63628200-63668200	Weak transcription	Fetal Kidney	kidney
13	chr2:63628600-63651600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr2:63629600-63644400	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr2:63629800-63637400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr2:63631600-63644000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr2:63631600-63652200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr2:63631800-63635800	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr2:63631800-63635800	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr2:63631800-63635800	Weak transcription	Lung	lung
21	chr2:63631800-63637400	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr2:63631800-63637400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr2:63631800-63641800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr2:63631800-63643200	Weak transcription	Dnd41	blood
25	chr2:63631800-63643800	Weak transcription	Pancreas	Pancrea
26	chr2:63631800-63645000	Weak transcription	Brain Substantia Nigra	brain
27	chr2:63631800-63652400	Weak transcription	Primary B cells from peripheral blood	blood
28	chr2:63631800-63654600	Weak transcription	Primary T cells from cord blood	blood
29	chr2:63631800-63661600	Weak transcription	Ovary	ovary
30	chr2:63631800-63665600	Weak transcription	Primary B cells from cord blood	blood
31	chr2:63631800-63675800	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr2:63631800-63677200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr2:63631800-63681200	Weak transcription	Aorta	Aorta
34	chr2:63631800-63688000	Weak transcription	Right Ventricle	heart
35	chr2:63632000-63665400	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr2:63633000-63649200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr2:63634200-63665800	Weak transcription	Fetal Heart	heart
38	chr2:63634400-63652000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr2:63634600-63641800	Weak transcription	Adipose Nuclei	Adipose
40	chr2:63635000-63636000	Strong transcription	Skeletal Muscle Male	skeletal muscle
41	chr2:63635400-63635800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr2:63635600-63635800	Enhancers	A549	lung
43	chr2:63635600-63636000	ZNF genes & repeats	Fetal Stomach	stomach
44	chr2:63635600-63636000	Enhancers	K562	blood
45	chr2:63635600-63636200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr2:63635600-63636200	Enhancers	HepG2	liver

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