Variant report

Variant	rs2286658
Chromosome Location	chr13:51086791-51086792
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:51085819..51089100-chr13:51090794..51093089,4	K562	blood:
2	chr13:51066276..51068266-chr13:51086109..51088000,2	K562	blood:
3	chr13:50569721..50571547-chr13:51085881..51088680,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RNASEH2B-3	chr13:51086748-51087029	NONHSAT033861

Variant related genes	Relation type
ENSG00000176124	Chromatin interaction
ENSG00000204977	Chromatin interaction
ENSG00000264864	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs12584983	0.89[CHB][hapmap];0.83[JPT][hapmap];0.81[ASN][1000 genomes]
rs1262775	0.85[JPT][hapmap]
rs1262778	0.81[CHB][hapmap];0.85[JPT][hapmap]
rs157164	0.81[CHB][hapmap];0.85[JPT][hapmap];0.80[ASN][1000 genomes]
rs1626445	0.80[ASN][1000 genomes]
rs1630605	0.85[JPT][hapmap]
rs1638703	0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs17074530	0.91[AFR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17074548	0.81[CHB][hapmap];0.92[JPT][hapmap];0.81[ASN][1000 genomes]
rs1752106	0.80[ASN][1000 genomes]
rs1752107	0.80[ASN][1000 genomes]
rs1753633	0.85[JPT][hapmap];0.80[ASN][1000 genomes]
rs183950	0.81[CHB][hapmap];0.85[JPT][hapmap];0.80[ASN][1000 genomes]
rs201748	0.97[ASN][1000 genomes]
rs202346	0.83[ASN][1000 genomes]
rs495838	0.85[JPT][hapmap];0.80[ASN][1000 genomes]
rs616268	0.80[ASN][1000 genomes]
rs9596303	0.83[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs9596305	0.81[CHB][hapmap];0.83[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035151	chr13:50513535-51167850	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1254 gene(s)	inside rSNPs	diseases
2	esv2753964	chr13:50545399-51421199	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
3	esv2753492	chr13:50550081-51461720	Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
4	nsv1045237	chr13:50976560-51102386	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv1040	chr13:51041591-51090903	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	esv1835159	chr13:51061044-51091390	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	esv1815534	chr13:51061044-51092946	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	esv1816672	chr13:51061044-51092946	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	esv1830736	chr13:51061044-51092946	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	esv1834352	chr13:51061044-51092946	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	esv1841390	chr13:51061044-51092946	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	esv1843375	chr13:51061044-51092946	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:51084200-51093200	Weak transcription	Spleen	Spleen
2	chr13:51084400-51093000	Weak transcription	Lung	lung
3	chr13:51085400-51087800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr13:51085600-51089200	Enhancers	Fetal Intestine Small	intestine
5	chr13:51085800-51087600	Flanking Active TSS	Dnd41	blood
6	chr13:51086000-51086800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr13:51086000-51087200	Active TSS	Brain Inferior Temporal Lobe	brain
8	chr13:51086000-51087200	Flanking Active TSS	Fetal Lung	lung
9	chr13:51086000-51087200	Flanking Active TSS	GM12878-XiMat	blood
10	chr13:51086000-51087400	Flanking Active TSS	Primary B cells from cord blood	blood
11	chr13:51086000-51087400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr13:51086000-51087400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr13:51086000-51087600	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr13:51086000-51088000	Enhancers	Fetal Kidney	kidney
15	chr13:51086000-51088000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
16	chr13:51086000-51088200	Enhancers	Fetal Stomach	stomach
17	chr13:51086200-51086800	Flanking Active TSS	HepG2	liver
18	chr13:51086200-51086800	Active TSS	Monocytes-CD14+_RO01746	blood
19	chr13:51086200-51087000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
20	chr13:51086200-51087000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
21	chr13:51086200-51087000	Active TSS	Aorta	Aorta
22	chr13:51086200-51087000	Flanking Active TSS	Rectal Smooth Muscle	rectum
23	chr13:51086200-51087000	Active TSS	HSMM	muscle
24	chr13:51086200-51087200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr13:51086200-51087200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
26	chr13:51086200-51087200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
27	chr13:51086200-51087200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
28	chr13:51086200-51087200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr13:51086200-51087200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
30	chr13:51086200-51087200	Active TSS	Duodenum Smooth Muscle	Duodenum
31	chr13:51086200-51087200	Flanking Active TSS	Thymus	Thymus
32	chr13:51086200-51087400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr13:51086200-51087400	Flanking Active TSS	Osteobl	bone
34	chr13:51086200-51087600	Enhancers	Small Intestine	intestine
35	chr13:51086200-51093000	Weak transcription	Placenta	Placenta
36	chr13:51086400-51086800	Active TSS	Primary T helper naive cells from peripheral blood	blood
37	chr13:51086400-51086800	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
38	chr13:51086400-51086800	Active TSS	Primary T helper cells PMA-I stimulated	--
39	chr13:51086400-51086800	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
40	chr13:51086400-51086800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
41	chr13:51086400-51086800	Flanking Active TSS	Brain Cingulate Gyrus	brain
42	chr13:51086400-51086800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
43	chr13:51086400-51086800	Weak transcription	Fetal Intestine Large	intestine
44	chr13:51086400-51087000	Active TSS	Primary T cells from cord blood	blood
45	chr13:51086400-51087000	Flanking Active TSS	Primary hematopoietic stem cells	blood
46	chr13:51086400-51087000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
47	chr13:51086400-51087000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr13:51086400-51087000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
49	chr13:51086400-51087000	Active TSS	Primary T killer memory cells from peripheral blood	blood
50	chr13:51086400-51087000	Flanking Active TSS	Fetal Thymus	thymus

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