Variant report

Variant	rs13393621
Chromosome Location	chr2:233655236-233655237
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10207739	0.86[MKK][hapmap]
rs10210051	1.00[AFR][1000 genomes]
rs13426191	0.89[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.87[EUR][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	nsv948470	chr2:233166262-233886732	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv1005123	chr2:233227729-233920152	Enhancers Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv536173	chr2:233227729-233920152	Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
4	nsv834570	chr2:233639160-233805067	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv460134	chr2:233639909-233714686	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
6	nsv584696	chr2:233639909-233714686	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region	5 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	chr2:233628600-233655400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:233629200-233655800	Weak transcription	Colonic Mucosa	Colon
3	chr2:233629400-233655400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:233631600-233659200	Weak transcription	Psoas Muscle	Psoas
5	chr2:233636200-233655400	Weak transcription	Esophagus	oesophagus
6	chr2:233641400-233662400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr2:233642000-233667200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr2:233642200-233655400	Weak transcription	Brain Cingulate Gyrus	brain
9	chr2:233644600-233655400	Weak transcription	Gastric	stomach
10	chr2:233645400-233655400	Weak transcription	Colon Smooth Muscle	Colon
11	chr2:233645400-233655400	Weak transcription	Rectal Smooth Muscle	rectum
12	chr2:233646600-233655800	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr2:233646800-233656200	Weak transcription	Stomach Mucosa	stomach
14	chr2:233648600-233664000	Strong transcription	Fetal Muscle Trunk	muscle
15	chr2:233648800-233657400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr2:233648800-233666800	Strong transcription	HSMM	muscle
17	chr2:233648800-233668000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr2:233649000-233680600	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr2:233649200-233663000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr2:233649200-233665800	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr2:233649400-233663000	Strong transcription	Primary B cells from peripheral blood	blood
22	chr2:233649400-233663400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr2:233649400-233665400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr2:233649400-233666000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr2:233649400-233667600	Strong transcription	Fetal Thymus	thymus
26	chr2:233649600-233663200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr2:233649600-233666800	Strong transcription	HepG2	liver
28	chr2:233649800-233655400	Weak transcription	Pancreas	Pancrea
29	chr2:233649800-233659000	Strong transcription	Fetal Lung	lung
30	chr2:233649800-233666400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr2:233649800-233667000	Strong transcription	Primary T helper cells PMA-I stimulated	--
32	chr2:233650000-233662200	Strong transcription	Fetal Brain Female	brain
33	chr2:233650000-233662800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr2:233650000-233663400	Strong transcription	HUES48 Cell Line	embryonic stem cell
35	chr2:233650200-233655400	Weak transcription	Lung	lung
36	chr2:233650400-233655400	Weak transcription	Aorta	Aorta
37	chr2:233650400-233655400	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr2:233650800-233664200	Strong transcription	Primary T cells fromperipheralblood	blood
39	chr2:233651000-233662400	Strong transcription	Left Ventricle	heart
40	chr2:233651200-233662200	Strong transcription	Cortex derived primary cultured neurospheres	brain
41	chr2:233651200-233662200	Strong transcription	Osteobl	bone
42	chr2:233651200-233663400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr2:233651200-233664600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr2:233651200-233668000	Strong transcription	Primary T helper cells fromperipheralblood	blood
45	chr2:233651400-233657000	Strong transcription	NHEK	skin
46	chr2:233651400-233662800	Strong transcription	HUES6 Cell Line	embryonic stem cell
47	chr2:233651400-233665600	Strong transcription	Primary hematopoietic stem cells	blood
48	chr2:233651400-233668000	Strong transcription	Liver	Liver
49	chr2:233651600-233663400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
50	chr2:233651800-233657800	Strong transcription	A549	lung

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