Variant report

Variant	rs2373471
Chromosome Location	chr2:39100168-39100169
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:39097841..39100728-chr2:39103293..39104847,2	MCF-7	breast:
2	chr2:39092323..39097069-chr2:39100019..39103136,5	MCF-7	breast:
3	chr2:39094336..39097317-chr2:39099432..39100935,2	K562	blood:

Variant related genes	Relation type
ENSG00000163214	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1010859	0.86[AFR][1000 genomes]
rs11681583	0.81[AFR][1000 genomes]
rs11888352	0.83[EUR][1000 genomes]
rs2373467	0.84[EUR][1000 genomes]
rs2373469	1.00[AFR][1000 genomes]
rs3099951	0.84[EUR][1000 genomes]
rs3100000	0.85[AFR][1000 genomes]
rs3112163	0.87[AFR][1000 genomes]
rs3112166	0.87[AFR][1000 genomes]
rs3112175	0.81[AFR][1000 genomes]
rs4670900	0.81[AFR][1000 genomes]
rs61736780	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6736353	1.00[AFR][1000 genomes]
rs72797369	0.92[AFR][1000 genomes]
rs72797376	0.97[AFR][1000 genomes]
rs72797386	0.99[AFR][1000 genomes]
rs72797389	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72797392	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72797401	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72797402	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][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	nsv916059	chr2:38332341-39119398	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	143 gene(s)	inside rSNPs	diseases
2	nsv2692	chr2:39065768-39111871	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:39038800-39102200	Weak transcription	Gastric	stomach
2	chr2:39039000-39101200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr2:39039000-39102000	Weak transcription	Colonic Mucosa	Colon
4	chr2:39080000-39102200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr2:39081200-39102200	Weak transcription	Right Ventricle	heart
6	chr2:39081200-39102200	Weak transcription	Spleen	Spleen
7	chr2:39081200-39102400	Weak transcription	Pancreas	Pancrea
8	chr2:39086400-39101800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr2:39088200-39102000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr2:39089200-39101800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr2:39089200-39101800	Weak transcription	Fetal Heart	heart
12	chr2:39089400-39101200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr2:39089400-39102000	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr2:39089400-39102200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr2:39089400-39102200	Weak transcription	Ovary	ovary
16	chr2:39089400-39102200	Weak transcription	Small Intestine	intestine
17	chr2:39089600-39101800	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr2:39089600-39102000	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr2:39089600-39102000	Weak transcription	NHLF	lung
20	chr2:39089600-39102400	Weak transcription	Lung	lung
21	chr2:39089800-39101800	Weak transcription	Brain Substantia Nigra	brain
22	chr2:39090000-39102000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr2:39090000-39102000	Weak transcription	Rectal Smooth Muscle	rectum
24	chr2:39090200-39101800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr2:39090200-39102400	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr2:39090600-39101800	Weak transcription	HUVEC	blood vessel
27	chr2:39090600-39101800	Weak transcription	Osteobl	bone
28	chr2:39090600-39102000	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr2:39090600-39102000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr2:39090600-39102200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr2:39090800-39102000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr2:39090800-39102000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr2:39090800-39102000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr2:39090800-39102000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr2:39090800-39102000	Weak transcription	Adipose Nuclei	Adipose
36	chr2:39090800-39102000	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr2:39090800-39102000	Weak transcription	HSMMtube	muscle
38	chr2:39090800-39102000	Weak transcription	NHDF-Ad	bronchial
39	chr2:39092000-39102200	Weak transcription	Right Atrium	heart
40	chr2:39092800-39102200	Weak transcription	Psoas Muscle	Psoas
41	chr2:39093800-39101800	Weak transcription	NH-A	brain
42	chr2:39094200-39101800	Weak transcription	Primary T helper cells PMA-I stimulated	--
43	chr2:39094200-39102000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr2:39094200-39102400	Weak transcription	Aorta	Aorta
45	chr2:39094400-39100800	Weak transcription	Primary T helper cells fromperipheralblood	blood
46	chr2:39094400-39102000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr2:39094400-39102000	Weak transcription	Liver	Liver
48	chr2:39094400-39102000	Weak transcription	Brain Hippocampus Middle	brain
49	chr2:39094400-39102000	Weak transcription	Colon Smooth Muscle	Colon
50	chr2:39094400-39102200	Weak transcription	HSMM	muscle

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