Variant report

Variant	rs72787712
Chromosome Location	chr2:30460175-30460176
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:30457858..30460277-chr2:30473755..30476331,2	K562	blood:
2	chr2:30460136..30462980-chr2:30484445..30486179,2	K562	blood:
3	chr2:30459999..30464804-chr2:30474137..30477672,6	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11681599	1.00[ASN][1000 genomes]
rs35326918	1.00[ASN][1000 genomes]
rs55939924	1.00[ASN][1000 genomes]
rs72785889	1.00[ASN][1000 genomes]
rs72787710	1.00[ASN][1000 genomes]
rs72787711	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	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	nsv1002657	chr2:30339312-30516535	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30455200-30463400	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr2:30456000-30464800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:30456400-30464200	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
4	chr2:30456600-30463200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr2:30456800-30461000	Transcr. at gene 5' and 3'	NHLF	lung
6	chr2:30456800-30462800	Weak transcription	Primary hematopoietic stem cells	blood
7	chr2:30457000-30463800	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
8	chr2:30457000-30476600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr2:30457200-30460400	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
10	chr2:30457200-30460800	Transcr. at gene 5' and 3'	Primary mononuclear cells fromperipheralblood	Blood
11	chr2:30457200-30463600	Genic enhancers	Spleen	Spleen
12	chr2:30457200-30470400	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr2:30457200-30473000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr2:30457400-30461600	Transcr. at gene 5' and 3'	Primary T helper naive cells from peripheral blood	blood
15	chr2:30457400-30461600	Transcr. at gene 5' and 3'	Stomach Smooth Muscle	stomach
16	chr2:30457400-30462200	Genic enhancers	Left Ventricle	heart
17	chr2:30457400-30463000	Transcr. at gene 5' and 3'	Primary T cells fromperipheralblood	blood
18	chr2:30457400-30463600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr2:30457400-30466400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr2:30457600-30460400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr2:30457600-30460600	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr2:30457600-30461000	Genic enhancers	Fetal Stomach	stomach
23	chr2:30457600-30462000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr2:30457600-30462800	Genic enhancers	Fetal Muscle Leg	muscle
25	chr2:30457600-30463000	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr2:30457600-30463000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr2:30457600-30464400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr2:30457600-30471800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr2:30457800-30460400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr2:30457800-30460600	Genic enhancers	Lung	lung
31	chr2:30457800-30461000	Weak transcription	Colon Smooth Muscle	Colon
32	chr2:30457800-30462000	Weak transcription	Adipose Nuclei	Adipose
33	chr2:30457800-30462600	Weak transcription	Pancreas	Pancrea
34	chr2:30457800-30462800	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
35	chr2:30457800-30467400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr2:30457800-30481000	Weak transcription	Gastric	stomach
37	chr2:30458000-30461400	Strong transcription	HUES48 Cell Line	embryonic stem cell
38	chr2:30458000-30461400	Transcr. at gene 5' and 3'	Primary T helper cells fromperipheralblood	blood
39	chr2:30458000-30461800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr2:30458000-30462600	Weak transcription	Small Intestine	intestine
41	chr2:30458000-30462600	Genic enhancers	NHDF-Ad	bronchial
42	chr2:30458000-30463800	Genic enhancers	Fetal Lung	lung
43	chr2:30458000-30464600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
44	chr2:30458200-30460200	Strong transcription	HUES64 Cell Line	embryonic stem cell
45	chr2:30458200-30460600	Weak transcription	Placenta	Placenta
46	chr2:30458200-30460800	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr2:30458200-30460800	Genic enhancers	Right Ventricle	heart
48	chr2:30458200-30462200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr2:30458200-30463400	Genic enhancers	HSMM	muscle
50	chr2:30458400-30460800	Enhancers	Fetal Brain Male	brain

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