Variant report

Variant	rs530653587
Chromosome Location	chr2:30733237-30733238
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:30732905..30735553-chr2:30837081..30838808,2	K562	blood:
2	chr2:30730220..30735508-chr2:30883142..30886584,5	K562	blood:
3	chr2:30727663..30729408-chr2:30731919..30733785,2	K562	blood:

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

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533886	chr2:30130019-31068764	ZNF genes & repeats Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	esv3414265	chr2:30732307-30733282	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
3	esv3457459	chr2:30732367-30733243	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
4	esv3457460	chr2:30732367-30733243	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30721400-30739000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr2:30724200-30733400	Weak transcription	Fetal Intestine Large	intestine
3	chr2:30724200-30733800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr2:30724200-30734000	Weak transcription	Ovary	ovary
5	chr2:30724200-30737400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr2:30724600-30737400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr2:30726200-30734200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr2:30726200-30742600	Weak transcription	Pancreas	Pancrea
9	chr2:30726400-30733400	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr2:30726400-30733800	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr2:30726400-30734200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr2:30726600-30737000	Weak transcription	Stomach Mucosa	stomach
13	chr2:30727000-30734400	Weak transcription	Psoas Muscle	Psoas
14	chr2:30727800-30734000	Weak transcription	Right Atrium	heart
15	chr2:30727800-30741400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr2:30728000-30739200	Weak transcription	Thymus	Thymus
17	chr2:30728200-30733400	Weak transcription	Fetal Stomach	stomach
18	chr2:30728600-30734400	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr2:30729000-30734000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr2:30729000-30737600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr2:30729000-30741200	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr2:30729000-30764600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr2:30729800-30736800	Weak transcription	Liver	Liver
24	chr2:30731600-30734600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr2:30732000-30738400	Enhancers	K562	blood
26	chr2:30732000-30739400	Enhancers	Fetal Heart	heart
27	chr2:30732200-30735000	Enhancers	HSMMtube	muscle
28	chr2:30732400-30733800	Enhancers	HepG2	liver
29	chr2:30732400-30735400	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr2:30732600-30733400	Enhancers	A549	lung
31	chr2:30732600-30733600	Enhancers	Right Ventricle	heart
32	chr2:30732600-30733600	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr2:30732800-30733600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr2:30732800-30733600	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr2:30732800-30733800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr2:30732800-30733800	Weak transcription	Fetal Muscle Leg	muscle
37	chr2:30732800-30734800	Enhancers	NHDF-Ad	bronchial
38	chr2:30732800-30735000	Enhancers	Primary T cells from cord blood	blood
39	chr2:30732800-30735400	Enhancers	Small Intestine	intestine
40	chr2:30732800-30735600	Enhancers	Hela-S3	cervix
41	chr2:30732800-30742000	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr2:30733000-30733600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
43	chr2:30733000-30734200	Weak transcription	Left Ventricle	heart
44	chr2:30733000-30734400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr2:30733000-30735000	Enhancers	Colon Smooth Muscle	Colon
46	chr2:30733000-30735600	Enhancers	Fetal Lung	lung
47	chr2:30733000-30756000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr2:30733200-30733400	Enhancers	Primary T helper cells PMA-I stimulated	--
49	chr2:30733200-30733400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr2:30733200-30733400	Enhancers	Pancreatic Islets	Pancreatic Islet

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