Variant report

Variant	rs34122754
Chromosome Location	chr2:9884076-9884077
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:9883472..9885352-chr2:9885421..9887800,2	MCF-7	breast:
2	chr2:9881645..9885042-chr2:9886477..9889282,3	K562	blood:

Variant related genes	Relation type
ENSG00000240960	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs4669449	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62127514	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:9877400-9885000	Weak transcription	HMEC	breast
2	chr2:9880000-9884200	Weak transcription	Fetal Intestine Large	intestine
3	chr2:9880000-9884400	Weak transcription	Lung	lung
4	chr2:9880000-9885000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr2:9880200-9884200	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr2:9880200-9884400	Weak transcription	Colonic Mucosa	Colon
7	chr2:9880200-9884400	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr2:9880200-9884400	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr2:9880200-9885200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr2:9880200-9892800	Weak transcription	Thymus	Thymus
11	chr2:9880200-9893200	Weak transcription	Right Atrium	heart
12	chr2:9880800-9885200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr2:9881400-9884200	Weak transcription	Duodenum Mucosa	Duodenum
14	chr2:9881400-9884200	Weak transcription	A549	lung
15	chr2:9881400-9884400	Weak transcription	Left Ventricle	heart
16	chr2:9881400-9884400	Weak transcription	Right Ventricle	heart
17	chr2:9881400-9884600	Weak transcription	HSMM	muscle
18	chr2:9881600-9885200	Weak transcription	Psoas Muscle	Psoas
19	chr2:9882000-9884200	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr2:9882000-9884600	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr2:9882200-9885000	Weak transcription	Hela-S3	cervix
22	chr2:9883600-9885400	Enhancers	Fetal Muscle Leg	muscle
23	chr2:9883800-9884400	Active TSS	Esophagus	oesophagus
24	chr2:9883800-9885400	Enhancers	Fetal Muscle Trunk	muscle
25	chr2:9884000-9885200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr2:9884000-9885200	Enhancers	Fetal Heart	heart
27	chr2:9884000-9885800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr2:9884000-9886000	Enhancers	NHDF-Ad	bronchial

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