Variant report

Variant	rs72860707
Chromosome Location	chr2:37330646-37330647
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	chr2:37329169..37331058-chr2:37331821..37334352,2	K562	blood:

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11124558	1.00[AMR][1000 genomes]
rs13384698	0.81[AFR][1000 genomes]
rs72860706	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72860709	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:121 , 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	chr2:37312400-37332600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr2:37312400-37332600	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr2:37312600-37332200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr2:37312600-37332600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr2:37313200-37346000	Weak transcription	Stomach Mucosa	stomach
9	chr2:37313400-37330800	Weak transcription	NHEK	skin
10	chr2:37313400-37361800	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr2:37314200-37331200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr2:37314400-37347000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr2:37314600-37346800	Strong transcription	Primary T helper cells fromperipheralblood	blood
14	chr2:37314800-37331200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr2:37315000-37338200	Strong transcription	Primary T cells from cord blood	blood
16	chr2:37315600-37337800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr2:37315600-37367000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr2:37315800-37341200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr2:37315800-37341400	Strong transcription	Duodenum Smooth Muscle	Duodenum
20	chr2:37316000-37331000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr2:37317400-37334200	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr2:37319000-37341200	Strong transcription	Rectal Mucosa Donor 29	rectum
23	chr2:37319000-37346600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
24	chr2:37319000-37347000	Strong transcription	Dnd41	blood
25	chr2:37319200-37336600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr2:37319200-37377200	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr2:37319400-37333200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr2:37320000-37346600	Strong transcription	Monocytes-CD14+_RO01746	blood
29	chr2:37320600-37368000	Strong transcription	Primary neutrophils fromperipheralblood	blood
30	chr2:37321000-37335400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr2:37321600-37330800	Weak transcription	K562	blood
32	chr2:37321600-37331000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr2:37321600-37331000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr2:37321600-37331400	Weak transcription	Lung	lung
35	chr2:37321600-37332400	Weak transcription	Colon Smooth Muscle	Colon
36	chr2:37321600-37332800	Weak transcription	Brain Substantia Nigra	brain
37	chr2:37321600-37334400	Weak transcription	Fetal Kidney	kidney
38	chr2:37321600-37335400	Weak transcription	Spleen	Spleen
39	chr2:37321600-37344800	Weak transcription	Gastric	stomach
40	chr2:37321600-37348600	Weak transcription	Colonic Mucosa	Colon
41	chr2:37321800-37332400	Weak transcription	Small Intestine	intestine
42	chr2:37322000-37333800	Weak transcription	Right Ventricle	heart
43	chr2:37322200-37332200	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr2:37322200-37335800	Weak transcription	Psoas Muscle	Psoas
45	chr2:37322400-37334800	Weak transcription	Brain Angular Gyrus	brain
46	chr2:37322400-37352200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr2:37322600-37336000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr2:37323400-37340600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr2:37323800-37334600	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr2:37324000-37332600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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