Variant report

Variant	rs72939379
Chromosome Location	chr2:97198788-97198789
allele	C/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	ZKSCAN1	chr2:97198590-97199639	Hela-S3	cervix:	n/a	n/a
2	MAZ	chr2:97198787-97198956	GM12878	blood:	n/a	n/a
3	CHD1	chr2:97198770-97198916	GM12878	blood:	n/a	n/a
4	CHD2	chr2:97197328-97198792	GM12878	blood:	n/a	chr2:97198199-97198209
5	SMARCC1	chr2:97197223-97199574	Hela-S3	cervix:	n/a	n/a
6	HCFC1	chr2:97197409-97198915	Hela-S3	cervix:	n/a	n/a
7	WRNIP1	chr2:97198749-97198998	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ARID5A	TF binding region
ENSG00000235480	TF binding region

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10175415	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10183164	0.92[ASN][1000 genomes]
rs10185002	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10199227	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10203766	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13384114	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13389475	0.88[EUR][1000 genomes]
rs13393729	0.82[ASN][1000 genomes]
rs13395011	0.90[ASN][1000 genomes]
rs13398740	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13405842	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2292942	0.82[EUR][1000 genomes]
rs35715176	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55687728	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55716397	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59398186	0.92[ASN][1000 genomes]
rs59426746	0.82[EUR][1000 genomes]
rs60326991	0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6718340	0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6732115	0.82[EUR][1000 genomes]
rs6733589	0.81[AFR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6753713	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72941209	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72941214	0.89[ASN][1000 genomes]
rs72941219	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs747757	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7604736	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7607990	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933671	chr2:96739308-97652262	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv1000780	chr2:96740430-97671395	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
3	nsv535826	chr2:96740430-97671395	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
4	nsv874677	chr2:96756547-97717345	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
5	nsv1001204	chr2:96766559-97728507	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
6	nsv535827	chr2:96766559-97728507	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
7	esv3460902	chr2:97138421-97459342	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
8	esv3460903	chr2:97138421-97459342	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
9	nsv999871	chr2:97157196-97407711	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
10	nsv535829	chr2:97157196-97407711	Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:97193200-97201000	Enhancers	NHDF-Ad	bronchial
2	chr2:97194000-97202600	Enhancers	Placenta	Placenta
3	chr2:97194400-97202400	Enhancers	Lung	lung
4	chr2:97194800-97199000	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr2:97194800-97202000	Weak transcription	Liver	Liver
6	chr2:97195200-97199600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr2:97195600-97198800	Enhancers	HUVEC	blood vessel
8	chr2:97196200-97200800	Enhancers	NHLF	lung
9	chr2:97196400-97199000	Enhancers	Aorta	Aorta
10	chr2:97196600-97198800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr2:97196800-97199600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr2:97197000-97199200	Enhancers	Primary B cells from cord blood	blood
13	chr2:97197000-97201800	Enhancers	HSMMtube	muscle
14	chr2:97197200-97198800	Enhancers	Ovary	ovary
15	chr2:97197200-97199000	Enhancers	Pancreas	Pancrea
16	chr2:97197200-97199200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr2:97197200-97199200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
18	chr2:97197200-97199400	Enhancers	Sigmoid Colon	Sigmoid Colon
19	chr2:97197200-97199600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr2:97197200-97199800	Enhancers	Spleen	Spleen
21	chr2:97197200-97200400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
22	chr2:97197200-97200600	Enhancers	Fetal Lung	lung
23	chr2:97197200-97200600	Enhancers	Stomach Mucosa	stomach
24	chr2:97197200-97202400	Enhancers	Brain Angular Gyrus	brain
25	chr2:97197200-97202400	Enhancers	Gastric	stomach
26	chr2:97197400-97199000	Flanking Active TSS	GM12878-XiMat	blood
27	chr2:97197400-97200000	Flanking Active TSS	Stomach Smooth Muscle	stomach
28	chr2:97197400-97200000	Enhancers	A549	lung
29	chr2:97197400-97202400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr2:97197400-97202400	Enhancers	Psoas Muscle	Psoas
31	chr2:97197600-97199800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr2:97197800-97199000	Enhancers	Primary T helper cells fromperipheralblood	blood
33	chr2:97197800-97199200	Enhancers	Primary T killer memory cells from peripheral blood	blood
34	chr2:97197800-97199400	Enhancers	Esophagus	oesophagus
35	chr2:97197800-97199600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr2:97197800-97200400	Enhancers	Osteobl	bone
37	chr2:97197800-97200600	Enhancers	Primary hematopoietic stem cells	blood
38	chr2:97197800-97202000	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr2:97197800-97202400	Enhancers	Primary monocytes fromperipheralblood	blood
40	chr2:97198000-97198800	Enhancers	Primary T helper naive cells from peripheral blood	blood
41	chr2:97198000-97198800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
42	chr2:97198000-97198800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
43	chr2:97198000-97198800	Enhancers	Fetal Intestine Small	intestine
44	chr2:97198000-97199000	Enhancers	Primary T cells fromperipheralblood	blood
45	chr2:97198000-97199000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
46	chr2:97198000-97199200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
47	chr2:97198000-97199400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr2:97198000-97199400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr2:97198000-97199600	Enhancers	Rectal Mucosa Donor 29	rectum
50	chr2:97198000-97199600	Enhancers	NH-A	brain

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