Variant report

Variant	rs3731979
Chromosome Location	chr2:172338658-172338659
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:172337490..172340413-chr2:172341579..172343907,2	K562	blood:
2	chr2:172337093..172339286-chr2:172342901..172345235,2	K562	blood:
3	chr2:172317786..172319882-chr2:172338446..172340027,2	MCF-7	breast:
4	chr2:172335431..172337466-chr2:172338246..172340277,2	MCF-7	breast:
5	chr2:172338568..172340301-chr2:172379547..172382280,2	K562	blood:
6	chr2:172337164..172339245-chr2:172345350..172347159,2	K562	blood:

Variant related genes	Relation type
ENSG00000115827	Chromatin interaction
ENSG00000071967	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs16823212	1.00[EUR][1000 genomes]
rs2017090	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2674496	1.00[EUR][1000 genomes]
rs3731989	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3795997	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56392714	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs57136707	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs57580465	1.00[EUR][1000 genomes]
rs59827170	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60018506	1.00[EUR][1000 genomes]
rs62183544	1.00[ASN][1000 genomes]
rs6729749	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6730160	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73976160	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73976165	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73976170	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7560091	1.00[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	esv3382346	chr2:172062677-172363892	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	esv1832950	chr2:172283513-172488111	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172292000-172341600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr2:172298400-172339400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:172298600-172341400	Weak transcription	NHLF	lung
4	chr2:172304800-172338800	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr2:172306000-172348000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr2:172307800-172341200	Weak transcription	Right Ventricle	heart
7	chr2:172309600-172348400	Weak transcription	Fetal Heart	heart
8	chr2:172313400-172339800	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr2:172324400-172340600	Strong transcription	Primary B cells from peripheral blood	blood
10	chr2:172324600-172340000	Strong transcription	Primary T helper cells PMA-I stimulated	--
11	chr2:172324800-172340400	Strong transcription	Primary T cells from cord blood	blood
12	chr2:172324800-172341200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:172325000-172340200	Strong transcription	Primary T helper cells fromperipheralblood	blood
14	chr2:172325200-172340000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr2:172327000-172339600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr2:172327000-172346800	Weak transcription	Colonic Mucosa	Colon
17	chr2:172327200-172339200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr2:172327200-172339400	Weak transcription	Pancreas	Pancrea
19	chr2:172327200-172341200	Weak transcription	Rectal Smooth Muscle	rectum
20	chr2:172327200-172341600	Weak transcription	Brain Germinal Matrix	brain
21	chr2:172327200-172344000	Weak transcription	Gastric	stomach
22	chr2:172327200-172346600	Weak transcription	Thymus	Thymus
23	chr2:172327200-172348800	Weak transcription	Spleen	Spleen
24	chr2:172327400-172339400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr2:172327400-172340800	Weak transcription	Lung	lung
26	chr2:172327400-172341200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr2:172327400-172341200	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr2:172327400-172341400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr2:172327400-172343400	Weak transcription	A549	lung
30	chr2:172327400-172346800	Weak transcription	Hela-S3	cervix
31	chr2:172327400-172347600	Weak transcription	Brain Cingulate Gyrus	brain
32	chr2:172327600-172339000	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr2:172327600-172339400	Weak transcription	Ovary	ovary
34	chr2:172327600-172344800	Weak transcription	Brain Anterior Caudate	brain
35	chr2:172327800-172346000	Weak transcription	Fetal Brain Male	brain
36	chr2:172328800-172339000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr2:172329000-172339800	Strong transcription	Primary T cells fromperipheralblood	blood
38	chr2:172330400-172346200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr2:172331400-172345800	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr2:172331600-172339600	Weak transcription	Placenta	Placenta
41	chr2:172331800-172343400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr2:172332200-172340800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr2:172332200-172341000	Weak transcription	Brain Hippocampus Middle	brain
44	chr2:172332200-172341200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
45	chr2:172332200-172342800	Weak transcription	Colon Smooth Muscle	Colon
46	chr2:172332200-172344000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr2:172332600-172341200	Weak transcription	Fetal Brain Female	brain
48	chr2:172332800-172343600	Weak transcription	Fetal Kidney	kidney
49	chr2:172333000-172338800	Strong transcription	HUES64 Cell Line	embryonic stem cell
50	chr2:172333400-172345400	Weak transcription	NHDF-Ad	bronchial

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