Variant report

Variant	rs34840654
Chromosome Location	chr2:9850299-9850300
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:9850271..9852517-chr2:9853774..9855814,2	K562	blood:
2	chr2:9769741..9772155-chr2:9846974..9850798,3	MCF-7	breast:
3	chr2:9850277..9852180-chr2:9858069..9860552,2	K562	blood:
4	chr2:9843482..9849818-chr2:9850036..9855209,6	K562	blood:
5	chr2:9847027..9849818-chr2:9850088..9852900,2	K562	blood:

Variant related genes	Relation type
ENSG00000134308	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10186640	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10754954	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10929606	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11685771	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12053215	0.90[ASN][1000 genomes]
rs12466375	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12476775	0.84[ASN][1000 genomes]
rs12478373	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13025476	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17592239	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35501269	0.92[ASN][1000 genomes]
rs35690179	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35969985	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4605345	0.83[ASN][1000 genomes]
rs4669444	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6715057	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6736234	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9789690	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][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	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

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:9843800-9852000	Weak transcription	Left Ventricle	heart
2	chr2:9844200-9852000	Weak transcription	Esophagus	oesophagus
3	chr2:9845200-9852000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr2:9845400-9860600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:9845600-9851600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr2:9846800-9854800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr2:9848000-9850600	Enhancers	GM12878-XiMat	blood
8	chr2:9848000-9852400	Enhancers	Primary T cells fromperipheralblood	blood
9	chr2:9848200-9852200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
10	chr2:9848400-9850600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr2:9848400-9851200	Weak transcription	Right Ventricle	heart
12	chr2:9848400-9852400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr2:9849000-9852400	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr2:9849400-9852000	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr2:9849400-9852400	Weak transcription	K562	blood
16	chr2:9849600-9850400	ZNF genes & repeats	Spleen	Spleen
17	chr2:9849600-9850600	Enhancers	HMEC	breast
18	chr2:9849800-9851000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr2:9849800-9851400	Weak transcription	Pancreas	Pancrea
20	chr2:9849800-9852000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr2:9850000-9850800	Enhancers	NHEK	skin
22	chr2:9850200-9851200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr2:9850200-9852000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr2:9850200-9852000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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