Variant report

Variant	rs13397352
Chromosome Location	chr2:231049150-231049151
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	chr2:231042254..231045167-chr2:231047833..231049865,3	K562	blood:

Variant related genes	Relation type
ENSG00000135899	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10167116	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10168057	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10174493	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10183659	1.00[AMR][1000 genomes]
rs10187268	1.00[AMR][1000 genomes]
rs13385973	0.96[AFR][1000 genomes]
rs13390432	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13392074	1.00[AMR][1000 genomes]
rs28733458	1.00[AMR][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	nsv1007920	chr2:230775427-231065592	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv1001562	chr2:230862717-231187043	Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv536156	chr2:230862717-231187043	Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv498047	chr2:230951712-231250489	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv869834	chr2:231045013-231139827	Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv998291	chr2:231045388-231136278	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:231028400-231067000	Strong transcription	Primary B cells from peripheral blood	blood
2	chr2:231028600-231051200	Strong transcription	Primary T helper cells fromperipheralblood	blood
3	chr2:231028800-231051600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr2:231030800-231051000	Strong transcription	Primary T cells fromperipheralblood	blood
5	chr2:231030800-231051000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr2:231031200-231049800	Weak transcription	HSMMtube	muscle
7	chr2:231031400-231051000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr2:231031400-231051000	Strong transcription	Fetal Thymus	thymus
9	chr2:231031400-231051600	Strong transcription	GM12878-XiMat	blood
10	chr2:231031400-231061200	Strong transcription	Primary B cells from cord blood	blood
11	chr2:231031600-231050800	Strong transcription	Fetal Muscle Leg	muscle
12	chr2:231031600-231052400	Weak transcription	Fetal Brain Male	brain
13	chr2:231031800-231049400	Strong transcription	Liver	Liver
14	chr2:231033800-231050800	Strong transcription	Dnd41	blood
15	chr2:231035000-231051800	Strong transcription	Primary T cells from cord blood	blood
16	chr2:231035400-231077000	Weak transcription	HepG2	liver
17	chr2:231035600-231050400	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr2:231035600-231050400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr2:231035600-231050800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr2:231035600-231050800	Strong transcription	Thymus	Thymus
21	chr2:231035600-231051000	Strong transcription	Primary neutrophils fromperipheralblood	blood
22	chr2:231035600-231051000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr2:231035600-231051200	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr2:231035600-231051600	Strong transcription	Primary T helper cells PMA-I stimulated	--
25	chr2:231035800-231049600	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr2:231035800-231062800	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr2:231036200-231049200	Strong transcription	Adipose Nuclei	Adipose
28	chr2:231036200-231050800	Strong transcription	Duodenum Smooth Muscle	Duodenum
29	chr2:231036200-231051200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr2:231036400-231051200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr2:231036600-231051200	Strong transcription	Ovary	ovary
32	chr2:231036800-231051000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
33	chr2:231036800-231071800	Weak transcription	NHEK	skin
34	chr2:231036800-231073600	Weak transcription	HMEC	breast
35	chr2:231037200-231050800	Strong transcription	Spleen	Spleen
36	chr2:231037200-231051000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr2:231037400-231049800	Strong transcription	Primary T helper naive cells from peripheral blood	blood
38	chr2:231038000-231069600	Weak transcription	NHLF	lung
39	chr2:231038800-231049200	Strong transcription	Duodenum Mucosa	Duodenum
40	chr2:231039000-231050800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr2:231039000-231050800	Strong transcription	Fetal Stomach	stomach
42	chr2:231039400-231050000	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr2:231041400-231064600	Weak transcription	Osteobl	bone
44	chr2:231041800-231049200	Strong transcription	Aorta	Aorta
45	chr2:231042800-231058400	Weak transcription	Brain Anterior Caudate	brain
46	chr2:231042800-231062600	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr2:231043000-231062800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr2:231043800-231049200	Strong transcription	Esophagus	oesophagus
49	chr2:231043800-231057800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr2:231043800-231062600	Weak transcription	Colon Smooth Muscle	Colon

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