Variant report

Variant	rs72942974
Chromosome Location	chr2:97611856-97611857
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:97593079..97595761-chr2:97610309..97612061,2	K562	blood:
2	chr2:97480838..97482571-chr2:97609984..97612595,2	MCF-7	breast:
3	chr2:97516728..97547486-chr2:97588377..97628331,265	MCF-7	breast:
4	chr2:97497731..97500526-chr2:97610997..97613941,2	MCF-7	breast:
5	chr2:97591274..97594233-chr2:97611259..97613898,3	MCF-7	breast:
6	chr2:97524495..97526579-chr2:97610763..97613644,2	K562	blood:
7	chr2:97610586..97615218-chr2:97625029..97628319,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000163126	Chromatin interaction
ENSG00000213337	Chromatin interaction
ENSG00000168758	Chromatin interaction
ENSG00000168763	Chromatin interaction

Extended variants
information (count: 23 )
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]
rs72942984	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72942994	0.80[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 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

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:97606200-97616000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:97609600-97612000	Enhancers	HepG2	liver
3	chr2:97610400-97616600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr2:97610400-97617400	Enhancers	Brain Substantia Nigra	brain
5	chr2:97611000-97615600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr2:97611000-97616400	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr2:97611000-97616600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr2:97611200-97615800	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr2:97611200-97616000	Weak transcription	Fetal Thymus	thymus
10	chr2:97611200-97616200	Weak transcription	Brain Germinal Matrix	brain
11	chr2:97611200-97616400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr2:97611200-97616400	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr2:97611200-97616800	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr2:97611200-97618000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr2:97611400-97613200	Weak transcription	Brain Angular Gyrus	brain
16	chr2:97611400-97613200	Weak transcription	Brain Anterior Caudate	brain
17	chr2:97611400-97615600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr2:97611400-97615600	Weak transcription	Fetal Brain Male	brain
19	chr2:97611400-97615800	Weak transcription	Fetal Lung	lung
20	chr2:97611400-97616000	Weak transcription	Fetal Brain Female	brain
21	chr2:97611400-97616000	Weak transcription	Rectal Smooth Muscle	rectum
22	chr2:97611600-97612000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr2:97611600-97612000	Weak transcription	Brain Cingulate Gyrus	brain
24	chr2:97611600-97612800	Weak transcription	K562	blood
25	chr2:97611600-97613000	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr2:97611600-97615200	Weak transcription	Stomach Smooth Muscle	stomach
27	chr2:97611600-97616000	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr2:97611800-97612400	Weak transcription	Brain Hippocampus Middle	brain
29	chr2:97611800-97615400	Weak transcription	Colon Smooth Muscle	Colon
30	chr2:97611800-97615800	Weak transcription	Fetal Heart	heart

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