Variant report

Variant	rs72942984
Chromosome Location	chr2:97625599-97625600
allele	C/T
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	USF1	chr2:97625497-97625758	K562	blood:	n/a	chr2:97625661-97625670 chr2:97625658-97625671 chr2:97625660-97625669 chr2:97625660-97625669 chr2:97625658-97625669
2	BHLHE40	chr2:97625503-97625830	K562	blood:	n/a	chr2:97625661-97625670 chr2:97625658-97625671 chr2:97625660-97625669 chr2:97625660-97625669
3	TBP	chr2:97625514-97625829	K562	blood:	n/a	n/a
4	USF1	chr2:97625574-97625781	HepG2	liver:	n/a	chr2:97625661-97625670 chr2:97625658-97625671 chr2:97625660-97625669 chr2:97625660-97625669 chr2:97625658-97625669
5	MAX	chr2:97625495-97625762	K562	blood:	n/a	n/a
6	USF1	chr2:97625474-97625781	K562	blood:	n/a	chr2:97625661-97625670 chr2:97625658-97625671 chr2:97625660-97625669 chr2:97625660-97625669 chr2:97625658-97625669

No.	Distal block	Cell Line	Cell type
1	chr2:97480973..97483903-chr2:97621623..97628750,6	MCF-7	breast:
2	chr2:97534921..97536780-chr2:97625343..97628032,2	K562	blood:
3	chr2:97554970..97556510-chr2:97625163..97627168,2	MCF-7	breast:
4	chr2:97523449..97525572-chr2:97625486..97626805,16	K562	blood:
5	chr2:97516728..97547486-chr2:97588377..97628331,265	MCF-7	breast:
6	chr2:97537658..97539492-chr2:97622900..97626326,3	K562	blood:
7	chr2:97623724..97626251-chr2:97633605..97636499,4	K562	blood:
8	chr2:97620122..97624045-chr2:97625118..97628656,4	MCF-7	breast:
9	chr2:97480314..97482263-chr2:97624226..97626740,2	K562	blood:
10	chr2:97536159..97540837-chr2:97622900..97627821,5	K562	blood:
11	chr2:97557941..97560811-chr2:97624763..97627667,2	MCF-7	breast:
12	chr2:97619225..97621126-chr2:97623559..97626363,2	K562	blood:
13	chr2:97610586..97615218-chr2:97625029..97628319,5	MCF-7	breast:
14	chr2:97523162..97525107-chr2:97625067..97626676,25	MCF-7	breast:

Variant related genes	Relation type
RNA5SP101	TF binding region
ENSG00000213337	Chromatin interaction
ENSG00000168758	Chromatin interaction
ENSG00000163126	Chromatin interaction
ENSG00000252845	Chromatin interaction
ENSG00000168763	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs58401081	1.00[AMR][1000 genomes]
rs60912063	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6756756	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72942941	1.00[AMR][1000 genomes]
rs72942947	1.00[AMR][1000 genomes]
rs72942960	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72942963	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72942969	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72942970	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72942974	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72942994	0.80[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 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	nsv874680	chr2:97309574-97678319	Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
8	nsv526313	chr2:97333492-97660619	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
9	nsv582497	chr2:97569305-97715154	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
10	esv2757819	chr2:97571109-98336507	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
11	esv2759077	chr2:97571109-98336507	Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
12	nsv1001432	chr2:97591069-97671395	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
13	esv32727	chr2:97616488-97643975	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:97619600-97628400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr2:97620200-97625600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr2:97620400-97625800	Weak transcription	Primary T cells from cord blood	blood
4	chr2:97620400-97625800	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr2:97620400-97629400	Weak transcription	Fetal Intestine Large	intestine
6	chr2:97620600-97625600	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr2:97620600-97625600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr2:97620600-97625600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr2:97620600-97625600	Weak transcription	Fetal Brain Female	brain
10	chr2:97620600-97626000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr2:97620600-97626000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr2:97620600-97628200	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr2:97620800-97625600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr2:97620800-97625600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr2:97620800-97625600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr2:97620800-97625600	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr2:97620800-97625600	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr2:97620800-97626000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr2:97620800-97626000	Weak transcription	Duodenum Mucosa	Duodenum
20	chr2:97620800-97626000	Weak transcription	Stomach Mucosa	stomach
21	chr2:97620800-97627600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr2:97620800-97629600	Weak transcription	Fetal Intestine Small	intestine
23	chr2:97620800-97643600	Weak transcription	Right Atrium	heart
24	chr2:97621000-97626000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr2:97621000-97626400	Weak transcription	GM12878-XiMat	blood
26	chr2:97621800-97625600	Weak transcription	Colonic Mucosa	Colon
27	chr2:97622000-97625600	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr2:97622000-97626000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr2:97622000-97626000	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr2:97622200-97626000	Weak transcription	Ovary	ovary
31	chr2:97622200-97626000	Weak transcription	Stomach Smooth Muscle	stomach
32	chr2:97623200-97626000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr2:97623400-97625600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr2:97623400-97625800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr2:97623400-97625800	Weak transcription	Fetal Brain Male	brain
36	chr2:97623400-97625800	Weak transcription	Fetal Lung	lung
37	chr2:97623400-97626000	Weak transcription	Pancreas	Pancrea
38	chr2:97623400-97627000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr2:97623400-97627000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr2:97623400-97628400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr2:97623600-97625600	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr2:97623600-97626000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr2:97623600-97626000	Weak transcription	Spleen	Spleen
44	chr2:97624200-97629800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr2:97625000-97625600	Enhancers	Brain Inferior Temporal Lobe	brain
46	chr2:97625000-97626600	Enhancers	K562	blood
47	chr2:97625200-97625600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr2:97625200-97626000	Enhancers	Brain Substantia Nigra	brain
49	chr2:97625200-97626200	Enhancers	Brain Cingulate Gyrus	brain
50	chr2:97625200-97626600	Enhancers	Brain Angular Gyrus	brain

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