Variant report

Variant	rs60259299
Chromosome Location	chr2:37843530-37843531
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:37839740..37841439-chr2:37842697..37845685,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-QPCT-3	chr2:37832379-37870742	NONHSAT070127

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

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

rs_ID	r²[population]
rs59030985	1.00[AMR][1000 genomes]
rs72881330	1.00[AMR][1000 genomes]
rs72883908	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	nsv456374	chr2:37669487-37868214	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv470453	chr2:37669487-37868214	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv581473	chr2:37669487-37868214	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv2757793	chr2:37796654-38138939	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	esv2759043	chr2:37796654-38138939	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
6	nsv833825	chr2:37808169-37985917	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37838600-37843600	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr2:37840800-37846000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
3	chr2:37841000-37844000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr2:37841000-37844400	Enhancers	Pancreatic Islets	Pancreatic Islet
5	chr2:37841000-37844800	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr2:37841000-37845600	Enhancers	Primary T cells fromperipheralblood	blood
7	chr2:37841000-37848600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr2:37841200-37844200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr2:37841200-37845000	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr2:37841200-37845200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr2:37841200-37845600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr2:37841200-37845800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr2:37841400-37845600	Enhancers	Primary T killer memory cells from peripheral blood	blood
14	chr2:37841400-37845800	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr2:37841400-37849800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr2:37841600-37852600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr2:37841800-37843600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr2:37841800-37845200	Weak transcription	Colonic Mucosa	Colon
19	chr2:37841800-37845400	Weak transcription	Fetal Muscle Leg	muscle
20	chr2:37841800-37845600	Enhancers	Primary B cells from peripheral blood	blood
21	chr2:37841800-37846600	Weak transcription	Aorta	Aorta
22	chr2:37841800-37850800	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr2:37841800-37850800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr2:37842200-37844200	Enhancers	Primary T cells from cord blood	blood
25	chr2:37842200-37844200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
26	chr2:37842200-37844400	Enhancers	Primary B cells from cord blood	blood
27	chr2:37842200-37844600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
28	chr2:37842200-37853200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr2:37842600-37844400	Enhancers	Fetal Thymus	thymus
30	chr2:37842600-37844400	Enhancers	Thymus	Thymus
31	chr2:37842600-37844600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr2:37842600-37844600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr2:37842800-37843600	Enhancers	Lung	lung
34	chr2:37842800-37843800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr2:37842800-37844000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr2:37842800-37844000	Enhancers	HUVEC	blood vessel
37	chr2:37842800-37844200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
38	chr2:37842800-37844400	Enhancers	Primary hematopoietic stem cells	blood
39	chr2:37842800-37844400	Enhancers	Primary hematopoietic stem cells short term culture	blood
40	chr2:37842800-37845600	Enhancers	Rectal Mucosa Donor 31	rectum
41	chr2:37843000-37843600	Enhancers	Left Ventricle	heart
42	chr2:37843000-37843800	Enhancers	Duodenum Mucosa	Duodenum
43	chr2:37843000-37843800	Enhancers	Ovary	ovary
44	chr2:37843000-37843800	Enhancers	HSMM	muscle
45	chr2:37843000-37844000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr2:37843000-37844000	Enhancers	Gastric	stomach
47	chr2:37843000-37844000	Enhancers	Spleen	Spleen
48	chr2:37843000-37844000	Flanking Active TSS	GM12878-XiMat	blood
49	chr2:37843000-37844000	Enhancers	NHLF	lung
50	chr2:37843000-37844200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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