Variant report

Variant	rs2160379
Chromosome Location	chr2:37096970-37096971
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr2:37096963-37096980	K562	blood:	n/a	n/a
2	MAFF	chr2:37096787-37097113	HepG2	liver:	n/a	chr2:37096945-37096963
3	MAFK	chr2:37096808-37097090	HepG2	liver:	n/a	n/a
4	MAFK	chr2:37096783-37097116	HepG2	liver:	n/a	n/a
5	MAFK	chr2:37096856-37097056	IMR90	lung:	n/a	n/a
6	MAFF	chr2:37096854-37097027	K562	blood:	n/a	chr2:37096945-37096963

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:37095568..37097536-chr2:37100134..37102065,2	K562	blood:

Variant related genes	Relation type
RNU6-577P	TF binding region

Extended variants
information (count: 116 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:113)

rs_ID	r²[population]
rs1015600	0.84[ASN][1000 genomes]
rs10164948	0.80[EUR][1000 genomes]
rs10166161	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10176081	0.80[EUR][1000 genomes]
rs10176124	0.80[EUR][1000 genomes]
rs10180003	0.80[EUR][1000 genomes]
rs10182741	0.88[EUR][1000 genomes]
rs10183626	0.81[EUR][1000 genomes]
rs10185737	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10189328	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10189918	0.88[EUR][1000 genomes]
rs10201963	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10202311	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1043290	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10490659	0.89[ASN][1000 genomes]
rs11124549	0.84[ASN][1000 genomes]
rs11124552	0.89[ASN][1000 genomes]
rs11673811	0.80[EUR][1000 genomes]
rs11676225	0.89[ASN][1000 genomes]
rs11678303	0.89[ASN][1000 genomes]
rs11678807	0.80[EUR][1000 genomes]
rs11680617	0.80[EUR][1000 genomes]
rs11680663	0.80[EUR][1000 genomes]
rs11682966	0.93[ASN][1000 genomes]
rs11685600	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11691236	0.82[ASN][1000 genomes]
rs12328274	0.87[ASN][1000 genomes]
rs12479195	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12616770	0.82[ASN][1000 genomes]
rs12624290	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13385627	0.85[ASN][1000 genomes]
rs13388406	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13401327	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13408941	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13413438	0.88[EUR][1000 genomes]
rs13424317	0.83[ASN][1000 genomes]
rs13432707	0.80[EUR][1000 genomes]
rs17020005	0.98[ASN][1000 genomes]
rs17020024	0.93[ASN][1000 genomes]
rs17020069	0.85[ASN][1000 genomes]
rs17020072	0.85[ASN][1000 genomes]
rs17020074	0.82[ASN][1000 genomes]
rs17020084	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17442690	0.89[ASN][1000 genomes]
rs17442739	0.89[ASN][1000 genomes]
rs1861433	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1861434	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1861436	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2041828	0.81[EUR][1000 genomes]
rs2216106	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2255330	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2287087	0.89[ASN][1000 genomes]
rs2302658	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2372812	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2540918	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2540919	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2540920	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2540925	0.83[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs2540931	0.94[ASN][1000 genomes]
rs2540936	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2540939	0.84[ASN][1000 genomes]
rs2540940	0.82[ASN][1000 genomes]
rs2540941	0.84[ASN][1000 genomes]
rs2691104	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2691109	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2691110	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2691114	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2691115	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2691116	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2691118	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2691122	0.80[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs2717492	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2717494	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2717495	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2717496	0.86[ASN][1000 genomes]
rs2717500	0.86[ASN][1000 genomes]
rs2717501	0.83[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs2717505	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2717508	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2717509	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2717510	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2717511	0.84[ASN][1000 genomes]
rs2717512	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2717516	0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2717518	0.93[ASN][1000 genomes]
rs2717519	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2717520	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2717522	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28718824	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28754306	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2888418	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35622893	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3770775	0.80[ASN][1000 genomes]
rs41486347	0.98[ASN][1000 genomes]
rs55993128	0.89[ASN][1000 genomes]
rs56186144	0.89[ASN][1000 genomes]
rs57671539	0.89[ASN][1000 genomes]
rs57884362	0.91[ASN][1000 genomes]
rs58970461	0.89[ASN][1000 genomes]
rs59854977	0.83[ASN][1000 genomes]
rs6715033	0.98[ASN][1000 genomes]
rs6739553	0.93[ASN][1000 genomes]
rs6756876	0.98[ASN][1000 genomes]
rs6759472	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs723673	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73924932	0.87[ASN][1000 genomes]
rs73924949	0.82[ASN][1000 genomes]
rs73924952	0.83[ASN][1000 genomes]
rs7562109	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7579735	0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9789527	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9789649	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs998321	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004483	chr2:36875235-37356812	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised 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	23 gene(s)	inside rSNPs	diseases
2	nsv535644	chr2:36875235-37356812	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv428395	chr2:36990348-37300352	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37065800-37104200	Weak transcription	Right Ventricle	heart
2	chr2:37067400-37103200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr2:37067600-37103000	Weak transcription	Small Intestine	intestine
4	chr2:37067600-37146200	Weak transcription	Psoas Muscle	Psoas
5	chr2:37073800-37098400	Weak transcription	Colonic Mucosa	Colon
6	chr2:37075600-37101600	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr2:37075600-37139200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr2:37075800-37106600	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr2:37076800-37111600	Weak transcription	Brain Germinal Matrix	brain
10	chr2:37077000-37102400	Weak transcription	Brain Angular Gyrus	brain
11	chr2:37077000-37102400	Weak transcription	Gastric	stomach
12	chr2:37077000-37116200	Weak transcription	Hela-S3	cervix
13	chr2:37077000-37116200	Weak transcription	NHLF	lung
14	chr2:37077200-37102400	Weak transcription	Aorta	Aorta
15	chr2:37077200-37102400	Weak transcription	Pancreas	Pancrea
16	chr2:37077200-37144400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr2:37077400-37136600	Weak transcription	Colon Smooth Muscle	Colon
18	chr2:37078000-37098600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr2:37078200-37118400	Weak transcription	Fetal Brain Male	brain
20	chr2:37079200-37111000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr2:37080600-37105800	Strong transcription	Primary B cells from cord blood	blood
22	chr2:37081600-37100200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr2:37082200-37115600	Weak transcription	Stomach Mucosa	stomach
24	chr2:37083400-37097000	Strong transcription	Primary T cells from cord blood	blood
25	chr2:37083800-37108000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr2:37084200-37103200	Weak transcription	HSMMtube	muscle
27	chr2:37084400-37099000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr2:37084400-37102400	Weak transcription	Spleen	Spleen
29	chr2:37085200-37098400	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr2:37085800-37102000	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr2:37086200-37100400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr2:37086400-37099400	Weak transcription	Ovary	ovary
33	chr2:37086400-37099400	Weak transcription	Stomach Smooth Muscle	stomach
34	chr2:37086400-37103600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr2:37087400-37146200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr2:37088000-37101200	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr2:37088000-37101400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr2:37089000-37101400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr2:37090600-37105600	Strong transcription	Monocytes-CD14+_RO01746	blood
40	chr2:37090800-37097200	Strong transcription	Primary hematopoietic stem cells	blood
41	chr2:37090800-37105200	Strong transcription	Adipose Nuclei	Adipose
42	chr2:37090800-37114200	Strong transcription	Primary B cells from peripheral blood	blood
43	chr2:37091000-37105800	Strong transcription	Primary T helper cells fromperipheralblood	blood
44	chr2:37091000-37114000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr2:37091200-37097600	Strong transcription	HUES6 Cell Line	embryonic stem cell
46	chr2:37091200-37101200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr2:37091200-37114400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr2:37091400-37097000	Strong transcription	Skeletal Muscle Female	skeletal muscle
49	chr2:37091400-37105800	Strong transcription	Primary neutrophils fromperipheralblood	blood
50	chr2:37091600-37100800	Strong transcription	Primary monocytes fromperipheralblood	blood

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