Variant report

Variant	rs72860709
Chromosome Location	chr2:37332762-37332763
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:37332029..37334141-chr2:37339201..37341578,2	K562	blood:
2	chr2:37331802..37334413-chr2:37337441..37339109,2	K562	blood:
3	chr2:37329169..37331058-chr2:37331821..37334352,2	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10177345	1.00[AMR][1000 genomes]
rs13384698	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13387567	1.00[AMR][1000 genomes]
rs13400956	1.00[AMR][1000 genomes]
rs28718568	1.00[AMR][1000 genomes]
rs4648244	1.00[AMR][1000 genomes]
rs58377470	1.00[AMR][1000 genomes]
rs72860706	0.84[AFR][1000 genomes]
rs72860707	0.81[AFR][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	nsv1004483	chr2:36875235-37356812	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv535644	chr2:36875235-37356812	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37312200-37332800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:37312200-37346000	Weak transcription	Pancreas	Pancrea
3	chr2:37312200-37383200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:37313200-37346000	Weak transcription	Stomach Mucosa	stomach
5	chr2:37313400-37361800	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr2:37314400-37347000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr2:37314600-37346800	Strong transcription	Primary T helper cells fromperipheralblood	blood
8	chr2:37315000-37338200	Strong transcription	Primary T cells from cord blood	blood
9	chr2:37315600-37337800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:37315600-37367000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr2:37315800-37341200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr2:37315800-37341400	Strong transcription	Duodenum Smooth Muscle	Duodenum
13	chr2:37317400-37334200	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr2:37319000-37341200	Strong transcription	Rectal Mucosa Donor 29	rectum
15	chr2:37319000-37346600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
16	chr2:37319000-37347000	Strong transcription	Dnd41	blood
17	chr2:37319200-37336600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr2:37319200-37377200	Strong transcription	Primary monocytes fromperipheralblood	blood
19	chr2:37319400-37333200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr2:37320000-37346600	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr2:37320600-37368000	Strong transcription	Primary neutrophils fromperipheralblood	blood
22	chr2:37321000-37335400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr2:37321600-37332800	Weak transcription	Brain Substantia Nigra	brain
24	chr2:37321600-37334400	Weak transcription	Fetal Kidney	kidney
25	chr2:37321600-37335400	Weak transcription	Spleen	Spleen
26	chr2:37321600-37344800	Weak transcription	Gastric	stomach
27	chr2:37321600-37348600	Weak transcription	Colonic Mucosa	Colon
28	chr2:37322000-37333800	Weak transcription	Right Ventricle	heart
29	chr2:37322200-37335800	Weak transcription	Psoas Muscle	Psoas
30	chr2:37322400-37334800	Weak transcription	Brain Angular Gyrus	brain
31	chr2:37322400-37352200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr2:37322600-37336000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr2:37323400-37340600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr2:37323800-37334600	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr2:37324000-37335600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr2:37324600-37336600	Weak transcription	Thymus	Thymus
37	chr2:37324800-37344400	Strong transcription	Adipose Nuclei	Adipose
38	chr2:37325000-37334800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr2:37325800-37333600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr2:37326000-37333200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr2:37326000-37335000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr2:37326600-37336800	Strong transcription	Stomach Smooth Muscle	stomach
43	chr2:37326800-37333000	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr2:37326800-37346600	Strong transcription	GM12878-XiMat	blood
45	chr2:37327000-37333800	Strong transcription	HSMM	muscle
46	chr2:37327000-37337400	Strong transcription	Fetal Muscle Trunk	muscle
47	chr2:37327000-37349200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr2:37327800-37333600	Strong transcription	Brain Anterior Caudate	brain
49	chr2:37328000-37333200	Weak transcription	Fetal Lung	lung
50	chr2:37328000-37339200	Weak transcription	Esophagus	oesophagus

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