Variant report

Variant	rs1437378
Chromosome Location	chr2:100683530-100683531
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:100679481..100681088-chr2:100682826..100685601,2	K562	blood:
2	chr2:100683259..100685948-chr2:100686167..100688772,2	MCF-7	breast:
3	chr2:100253178..100253811-chr2:100683084..100684024,2	MCF-7	breast:
4	chr2:100672616..100673492-chr2:100682963..100683954,3	MCF-7	breast:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1437379	1.00[AMR][1000 genomes]
rs17023456	1.00[AMR][1000 genomes]
rs6752954	1.00[YRI][hapmap]
rs6760359	1.00[AFR][1000 genomes]
rs735001	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003343	chr2:100241560-100848900	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv535843	chr2:100241560-100848900	Genic enhancers Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100656600-100686600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr2:100662200-100684800	Weak transcription	Ovary	ovary
3	chr2:100664400-100699600	Weak transcription	Aorta	Aorta
4	chr2:100667800-100688000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr2:100678000-100686600	Weak transcription	Primary T cells from cord blood	blood
6	chr2:100678000-100687600	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr2:100679600-100686000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr2:100679600-100689600	Weak transcription	Spleen	Spleen
9	chr2:100680600-100684800	Enhancers	Fetal Lung	lung
10	chr2:100680600-100687800	Enhancers	Dnd41	blood
11	chr2:100681200-100686400	Weak transcription	Small Intestine	intestine
12	chr2:100681600-100686400	Weak transcription	Duodenum Mucosa	Duodenum
13	chr2:100681600-100686800	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr2:100681800-100684800	Weak transcription	Primary B cells from peripheral blood	blood
15	chr2:100682200-100685200	Enhancers	Fetal Heart	heart
16	chr2:100682200-100685400	Enhancers	Liver	Liver
17	chr2:100682600-100683600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr2:100682800-100686000	Enhancers	Fetal Thymus	thymus
19	chr2:100683000-100686400	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr2:100683000-100686600	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr2:100683000-100689000	Weak transcription	Primary hematopoietic stem cells	blood
22	chr2:100683000-100698200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr2:100683200-100683800	Weak transcription	Stomach Mucosa	stomach
24	chr2:100683200-100685000	Weak transcription	Fetal Kidney	kidney
25	chr2:100683200-100686000	Enhancers	Thymus	Thymus
26	chr2:100683200-100686200	Weak transcription	Fetal Brain Male	brain
27	chr2:100683200-100687000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr2:100683200-100687800	Strong transcription	Primary B cells from cord blood	blood
29	chr2:100683200-100687800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr2:100683200-100688600	Weak transcription	Fetal Brain Female	brain
31	chr2:100683200-100719600	Weak transcription	Brain Germinal Matrix	brain
32	chr2:100683400-100683600	Bivalent Enhancer	HepG2	liver
33	chr2:100683400-100683800	Weak transcription	Adipose Nuclei	Adipose

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