Variant report

Variant	rs72856357
Chromosome Location	chr2:149017019-149017020
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10198081	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13396922	0.93[EUR][1000 genomes]
rs13425695	0.97[ASN][1000 genomes]
rs4264521	0.95[ASN][1000 genomes]
rs58880256	0.97[ASN][1000 genomes]
rs62182801	0.86[ASN][1000 genomes]
rs6731657	0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001339	chr2:148755022-149020866	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv535977	chr2:148755022-149020866	Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv869146	chr2:148787051-149060763	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1004431	chr2:148859099-149054114	Weak transcription Active TSS ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv1009608	chr2:148897348-149133718	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	esv2753542	chr2:149004714-149268503	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:148995000-149019800	Weak transcription	Aorta	Aorta
2	chr2:148995000-149030800	Weak transcription	Left Ventricle	heart
3	chr2:148996400-149030400	Weak transcription	Colon Smooth Muscle	Colon
4	chr2:149009400-149017600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr2:149009600-149017600	ZNF genes & repeats	Fetal Intestine Small	intestine
6	chr2:149011600-149017200	ZNF genes & repeats	Fetal Thymus	thymus
7	chr2:149011600-149017600	ZNF genes & repeats	Fetal Muscle Leg	muscle
8	chr2:149011600-149030800	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr2:149011800-149021200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr2:149012000-149019000	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr2:149012400-149017200	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr2:149012600-149043400	Weak transcription	Gastric	stomach
13	chr2:149012800-149030000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr2:149012800-149030200	Weak transcription	Fetal Kidney	kidney
15	chr2:149012800-149030800	Weak transcription	Adipose Nuclei	Adipose
16	chr2:149012800-149096000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr2:149013000-149017600	Weak transcription	Right Ventricle	heart
18	chr2:149014000-149025800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr2:149014000-149031600	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr2:149014400-149018000	Weak transcription	Stomach Smooth Muscle	stomach
21	chr2:149015000-149017800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr2:149015200-149017400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
23	chr2:149015200-149017400	ZNF genes & repeats	Thymus	Thymus
24	chr2:149015200-149017600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
25	chr2:149015400-149017400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
26	chr2:149015400-149017400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr2:149015400-149018000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr2:149015400-149021800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr2:149015400-149023000	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr2:149015600-149017400	ZNF genes & repeats	Brain Germinal Matrix	brain
31	chr2:149015600-149017600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
32	chr2:149015600-149017600	ZNF genes & repeats	Fetal Stomach	stomach
33	chr2:149015800-149017600	ZNF genes & repeats	Duodenum Mucosa	Duodenum
34	chr2:149015800-149018200	Weak transcription	HSMMtube	muscle
35	chr2:149015800-149030200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr2:149016400-149017200	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
37	chr2:149016400-149017200	ZNF genes & repeats	Lung	lung
38	chr2:149016400-149017400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr2:149016400-149017400	Strong transcription	Fetal Lung	lung
40	chr2:149016400-149017400	ZNF genes & repeats	Pancreas	Pancrea
41	chr2:149016400-149017600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr2:149016600-149017200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
43	chr2:149016600-149017400	ZNF genes & repeats	Brain Hippocampus Middle	brain
44	chr2:149016600-149017600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
45	chr2:149016600-149017600	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
46	chr2:149016600-149017600	ZNF genes & repeats	Dnd41	blood
47	chr2:149016800-149017400	ZNF genes & repeats	Spleen	Spleen
48	chr2:149016800-149017400	ZNF genes & repeats	HMEC	breast
49	chr2:149016800-149017600	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr2:149016800-149017600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast

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