Variant report

Variant	rs34491197
Chromosome Location	chr2:9890738-9890739
allele	CT/TA
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:9881447..9883906-chr2:9890191..9892636,2	MCF-7	breast:
2	chr2:9877856..9880099-chr2:9889992..9892399,2	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10171491	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10173057	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10176382	0.84[ASN][1000 genomes]
rs10178017	0.83[ASN][1000 genomes]
rs10180724	0.83[ASN][1000 genomes]
rs10200779	0.83[ASN][1000 genomes]
rs10200869	0.84[ASN][1000 genomes]
rs10202283	0.83[ASN][1000 genomes]
rs1123269	0.83[ASN][1000 genomes]
rs12475853	0.84[ASN][1000 genomes]
rs12476199	0.81[ASN][1000 genomes]
rs12476232	0.83[ASN][1000 genomes]
rs12692393	0.83[ASN][1000 genomes]
rs12692394	0.83[ASN][1000 genomes]
rs12996417	0.82[ASN][1000 genomes]
rs13018695	0.81[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs13028425	0.84[ASN][1000 genomes]
rs13395171	0.84[ASN][1000 genomes]
rs13398163	0.84[ASN][1000 genomes]
rs13398193	0.84[ASN][1000 genomes]
rs13398304	0.84[ASN][1000 genomes]
rs1554107	0.83[ASN][1000 genomes]
rs4668644	0.81[AFR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6713497	0.81[AFR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6740013	0.85[ASN][1000 genomes]
rs6742929	0.81[AFR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6743152	0.86[ASN][1000 genomes]
rs6754662	0.84[ASN][1000 genomes]
rs6756567	0.83[ASN][1000 genomes]
rs6761286	0.80[AFR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6761920	0.81[ASN][1000 genomes]
rs7423455	0.83[ASN][1000 genomes]
rs7423458	0.83[ASN][1000 genomes]
rs868442	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469405	chr2:9814374-9964947	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
2	nsv580930	chr2:9814374-9964947	Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv1003026	chr2:9854939-10012516	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
4	nsv470443	chr2:9857018-9975557	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	nsv1014911	chr2:9863969-9905959	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv873618	chr2:9870631-9919759	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
7	nsv873619	chr2:9870631-9956981	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
8	nsv1013969	chr2:9888703-10023951	Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:9880200-9892800	Weak transcription	Thymus	Thymus
2	chr2:9880200-9893200	Weak transcription	Right Atrium	heart
3	chr2:9884800-9892600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr2:9885200-9891200	Weak transcription	Right Ventricle	heart
5	chr2:9885200-9891400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr2:9885200-9893000	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr2:9885400-9891000	Weak transcription	Psoas Muscle	Psoas
8	chr2:9885400-9893000	Weak transcription	Left Ventricle	heart
9	chr2:9885600-9892600	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr2:9885800-9891000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr2:9885800-9891600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr2:9886000-9891600	Weak transcription	NHDF-Ad	bronchial
13	chr2:9886200-9892800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr2:9888600-9892000	Enhancers	Fetal Muscle Leg	muscle
15	chr2:9888600-9893000	Enhancers	GM12878-XiMat	blood
16	chr2:9889200-9891800	Weak transcription	Hela-S3	cervix
17	chr2:9889200-9891800	Weak transcription	NHEK	skin
18	chr2:9889200-9892400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr2:9889400-9890800	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr2:9889400-9892000	Weak transcription	HMEC	breast
21	chr2:9889400-9892600	Weak transcription	Fetal Intestine Small	intestine
22	chr2:9889400-9893200	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr2:9889600-9890800	Weak transcription	Fetal Heart	heart
24	chr2:9889600-9891000	Weak transcription	A549	lung
25	chr2:9889800-9896800	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr2:9890000-9892600	Weak transcription	Fetal Intestine Large	intestine
27	chr2:9890000-9892600	Weak transcription	HSMM	muscle
28	chr2:9890400-9892600	Weak transcription	HSMMtube	muscle
29	chr2:9890600-9893000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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