Variant report

Variant	rs12999616
Chromosome Location	chr2:98324381-98324382
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:98318005..98319783-chr2:98322121..98325274,4	K562	blood:
2	chr2:98317619..98320456-chr2:98324086..98325839,2	MCF-7	breast:
3	chr2:98312481..98316233-chr2:98322802..98326765,3	K562	blood:
4	chr2:98323418..98325644-chr2:98350016..98352921,2	K562	blood:
5	chr2:98323738..98326551-chr2:98339441..98341219,2	K562	blood:
6	chr2:98323754..98326397-chr2:98334462..98336180,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000115085	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs17695937	0.86[CEU][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2290127	1.00[YRI][hapmap]
rs2309149	1.00[ASN][1000 genomes]
rs34459720	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34516173	1.00[ASN][1000 genomes]
rs35065263	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35321033	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35530168	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35958372	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55933640	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56035334	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs57875000	1.00[ASN][1000 genomes]
rs58738348	1.00[ASN][1000 genomes]
rs62157581	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72493438	1.00[ASN][1000 genomes]
rs72493444	1.00[ASN][1000 genomes]
rs72493445	1.00[ASN][1000 genomes]
rs72949064	1.00[ASN][1000 genomes]
rs7425883	0.86[CEU][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7563002	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv531382	chr2:98250628-98457616	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	nsv874696	chr2:98309882-98362907	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	esv33510	chr2:98317103-98341302	Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:98312800-98324600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr2:98323800-98324800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr2:98323800-98324800	Enhancers	Fetal Intestine Large	intestine
4	chr2:98323800-98324800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
5	chr2:98323800-98324800	Enhancers	Rectal Mucosa Donor 31	rectum
6	chr2:98323800-98324800	Enhancers	Stomach Mucosa	stomach
7	chr2:98323800-98325000	Enhancers	Duodenum Mucosa	Duodenum
8	chr2:98323800-98326800	Enhancers	Fetal Muscle Leg	muscle
9	chr2:98324000-98324400	Enhancers	Pancreas	Pancrea
10	chr2:98324000-98324600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr2:98324200-98324400	Enhancers	Small Intestine	intestine
12	chr2:98324200-98324600	Enhancers	Fetal Intestine Small	intestine
13	chr2:98324200-98325400	Enhancers	Primary hematopoietic stem cells short term culture	blood

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