Variant report

Variant	rs72958630
Chromosome Location	chr2:99392974-99392975
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:99347124..99349184-chr2:99391953..99393526,2	MCF-7	breast:
2	chr2:99384290..99389208-chr2:99389339..99394045,5	MCF-7	breast:
3	chr2:99391796..99394293-chr2:99395311..99397641,2	MCF-7	breast:
4	chr2:99391084..99393411-chr2:99394844..99396426,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000226791	Chromatin interaction
ENSG00000071073	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs56923186	1.00[AMR][1000 genomes]
rs58738020	1.00[AMR][1000 genomes]
rs58821307	1.00[AMR][1000 genomes]
rs59365702	1.00[AMR][1000 genomes]
rs60523550	1.00[AMR][1000 genomes]
rs60725966	1.00[AMR][1000 genomes]
rs60745907	1.00[AMR][1000 genomes]
rs61503115	1.00[AMR][1000 genomes]
rs72956638	1.00[AMR][1000 genomes]
rs72956659	1.00[AMR][1000 genomes]
rs72956663	1.00[AMR][1000 genomes]
rs72957625	1.00[AMR][1000 genomes]
rs72957633	1.00[AMR][1000 genomes]
rs72957643	1.00[AMR][1000 genomes]
rs72957654	1.00[AMR][1000 genomes]
rs72957656	1.00[AMR][1000 genomes]
rs72957660	1.00[AMR][1000 genomes]
rs72957672	1.00[AMR][1000 genomes]
rs72958634	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72958636	1.00[AMR][1000 genomes]
rs72958646	1.00[AMR][1000 genomes]
rs72958649	1.00[AMR][1000 genomes]
rs72958653	1.00[AMR][1000 genomes]
rs72958659	1.00[AMR][1000 genomes]
rs72958661	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72958666	1.00[AMR][1000 genomes]
rs72960709	1.00[AMR][1000 genomes]
rs73965241	1.00[AMR][1000 genomes]
rs73965242	1.00[AMR][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	nsv1011278	chr2:99280928-99638376	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv535835	chr2:99280928-99638376	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription 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

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99385800-99394000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr2:99385800-99410400	Weak transcription	Right Atrium	heart
3	chr2:99389000-99393000	Enhancers	Fetal Thymus	thymus
4	chr2:99389000-99393800	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr2:99391000-99393200	Enhancers	Fetal Brain Male	brain
6	chr2:99391000-99395400	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr2:99391200-99393000	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr2:99391400-99393000	Enhancers	Fetal Muscle Leg	muscle
9	chr2:99391600-99406600	Weak transcription	Thymus	Thymus
10	chr2:99391800-99393000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr2:99391800-99393000	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr2:99391800-99393000	Enhancers	HepG2	liver
13	chr2:99392000-99393000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr2:99392000-99393000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr2:99392000-99393400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr2:99392000-99393400	Enhancers	Fetal Lung	lung
17	chr2:99392400-99393200	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr2:99392400-99393200	Enhancers	Fetal Brain Female	brain
19	chr2:99392400-99393800	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr2:99392600-99393000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr2:99392600-99393000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr2:99392600-99393000	Enhancers	Stomach Smooth Muscle	stomach
23	chr2:99392800-99396200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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