Variant report

Variant	rs6748245
Chromosome Location	chr2:149282766-149282767
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:149277983..149279760-chr2:149282502..149284169,2	K562	blood:
2	chr2:149282589..149285549-chr2:149375360..149378026,2	MCF-7	breast:
3	chr2:149281731..149283651-chr2:149284269..149286431,2	K562	blood:
4	chr2:149281538..149284330-chr2:149286609..149289120,3	K562	blood:
5	chr2:149282393..149284860-chr2:149290355..149292370,2	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs57106069	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59597132	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6705275	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6761564	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs935385	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012275	chr2:149031668-149316793	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	esv2751831	chr2:149151358-150105603	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv1000101	chr2:149165813-149361220	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv868861	chr2:149198443-149434604	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv917109	chr2:149198443-149948302	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
6	nsv1004663	chr2:149214090-149373061	Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	esv2762913	chr2:149249683-149345487	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:149247600-149291000	Weak transcription	Spleen	Spleen
2	chr2:149248800-149284600	Weak transcription	Lung	lung
3	chr2:149267000-149286200	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr2:149267200-149282800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr2:149267200-149285400	Weak transcription	GM12878-XiMat	blood
6	chr2:149267200-149285600	Weak transcription	HSMMtube	muscle
7	chr2:149267400-149285200	Weak transcription	Fetal Muscle Leg	muscle
8	chr2:149267400-149288400	Weak transcription	Fetal Brain Female	brain
9	chr2:149267400-149288800	Weak transcription	Right Ventricle	heart
10	chr2:149267600-149283000	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr2:149267600-149284200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr2:149267600-149284800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:149267600-149285200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr2:149270600-149288400	Weak transcription	Fetal Heart	heart
15	chr2:149272400-149288800	Weak transcription	Left Ventricle	heart
16	chr2:149272600-149287600	Weak transcription	Pancreas	Pancrea
17	chr2:149273000-149286600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr2:149277200-149287000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr2:149278000-149284400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr2:149278200-149285000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr2:149278400-149283200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr2:149278400-149284400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr2:149278600-149284200	Enhancers	Primary T helper cells fromperipheralblood	blood
24	chr2:149278800-149285200	Enhancers	Primary T cells fromperipheralblood	blood
25	chr2:149280200-149287200	Enhancers	Thymus	Thymus
26	chr2:149280600-149282800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
27	chr2:149281000-149288000	Enhancers	Fetal Thymus	thymus
28	chr2:149281200-149282800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
29	chr2:149281200-149282800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr2:149281400-149284000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr2:149281400-149292200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr2:149281400-149296400	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr2:149281800-149282800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
34	chr2:149282000-149284400	Weak transcription	Primary hematopoietic stem cells	blood
35	chr2:149282400-149282800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
36	chr2:149282400-149282800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
37	chr2:149282400-149283200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
38	chr2:149282600-149282800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
39	chr2:149282600-149282800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
40	chr2:149282600-149283000	Enhancers	Primary T cells from cord blood	blood
41	chr2:149282600-149283400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
42	chr2:149282600-149285000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr2:149282600-149285200	Weak transcription	Dnd41	blood

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