Variant report

Variant	rs72856659
Chromosome Location	chr2:30739926-30739927
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	chr2:30739882..30742523-chr2:30744802..30747234,2	K562	blood:
2	chr2:30727521..30729274-chr2:30737533..30740125,3	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs57847208	1.00[EUR][1000 genomes]
rs60449073	1.00[EUR][1000 genomes]
rs6748456	1.00[EUR][1000 genomes]
rs72853146	0.83[AMR][1000 genomes]
rs72853177	1.00[EUR][1000 genomes]
rs72853183	1.00[EUR][1000 genomes]
rs72856612	1.00[EUR][1000 genomes]
rs72856616	1.00[EUR][1000 genomes]
rs72856621	1.00[EUR][1000 genomes]
rs72856644	1.00[EUR][1000 genomes]
rs72856689	1.00[EUR][1000 genomes]
rs72859002	1.00[EUR][1000 genomes]
rs72863023	1.00[EUR][1000 genomes]
rs72863101	1.00[EUR][1000 genomes]
rs72865406	1.00[EUR][1000 genomes]
rs7582446	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30726200-30742600	Weak transcription	Pancreas	Pancrea
2	chr2:30727800-30741400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr2:30729000-30741200	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr2:30729000-30764600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr2:30732800-30742000	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr2:30733000-30756000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr2:30734800-30741600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr2:30734800-30742200	Weak transcription	Gastric	stomach
9	chr2:30734800-30764000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr2:30735000-30741400	Weak transcription	Primary T cells from cord blood	blood
11	chr2:30735000-30741600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr2:30735000-30741800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:30735000-30742600	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr2:30735000-30742600	Weak transcription	HSMMtube	muscle
15	chr2:30735400-30741600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr2:30735400-30741600	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr2:30735400-30741800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr2:30735400-30742200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr2:30735400-30742200	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr2:30735400-30742600	Weak transcription	Fetal Intestine Large	intestine
21	chr2:30735600-30740800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr2:30735600-30741400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr2:30735600-30742800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr2:30736800-30752400	Weak transcription	Psoas Muscle	Psoas
25	chr2:30737000-30742400	Weak transcription	Left Ventricle	heart
26	chr2:30737600-30740400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr2:30737600-30742000	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr2:30737800-30740000	Weak transcription	Small Intestine	intestine
29	chr2:30737800-30741800	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr2:30737800-30742600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr2:30738000-30740200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr2:30738000-30741400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr2:30738000-30741600	Weak transcription	Fetal Thymus	thymus
34	chr2:30738000-30741800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr2:30738000-30741800	Weak transcription	Fetal Muscle Trunk	muscle
36	chr2:30738000-30742200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr2:30738000-30742600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr2:30738000-30742600	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr2:30738000-30742600	Weak transcription	NHEK	skin
40	chr2:30738000-30750400	Weak transcription	Liver	Liver
41	chr2:30738000-30757000	Weak transcription	Ovary	ovary
42	chr2:30738200-30740600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr2:30738200-30741800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr2:30738200-30741800	Weak transcription	Duodenum Mucosa	Duodenum
45	chr2:30738200-30742600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr2:30738200-30742600	Weak transcription	Rectal Smooth Muscle	rectum
47	chr2:30738200-30742600	Weak transcription	NHLF	lung
48	chr2:30738200-30742800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr2:30738200-30744000	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr2:30738200-30750000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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