Variant report

Variant	rs2140647
Chromosome Location	chr7:120806742-120806743
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:120787470..120791175-chr7:120804388..120809200,4	K562	blood:
2	chr7:120805499..120808232-chr7:120819576..120821319,3	K562	blood:
3	chr7:120713720..120716672-chr7:120804546..120807169,2	K562	blood:
4	chr7:120787470..120791175-chr7:120805473..120809200,3	K562	blood:

Variant related genes	Relation type
ENSG00000106034	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10243808	0.83[YRI][hapmap]
rs1404266	1.00[YRI][hapmap]
rs1917109	0.83[YRI][hapmap]
rs2538488	0.82[YRI][hapmap]
rs2908571	0.83[YRI][hapmap]
rs2908575	0.83[YRI][hapmap]
rs57386527	1.00[EUR][1000 genomes]
rs6466771	1.00[AFR][1000 genomes]
rs73433953	1.00[EUR][1000 genomes]
rs7790117	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv608327	chr7:120633006-120873078	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1023611	chr7:120638930-120881658	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1025430	chr7:120638930-121179289	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv1030792	chr7:120662815-120917533	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv1031282	chr7:120667937-120887301	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv539099	chr7:120667937-120887301	Flanking Active TSS Enhancers Genic enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv1019025	chr7:120667937-120918696	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv539100	chr7:120667937-120918696	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv534342	chr7:120667938-120887300	Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv428506	chr7:120719434-120891759	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
11	nsv889121	chr7:120747228-120869464	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
12	nsv427802	chr7:120749159-120935856	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2140647	ABCC4	trans	lymphoblastoid	RTeQTL

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:120742000-120810000	Weak transcription	Psoas Muscle	Psoas
2	chr7:120782800-120822400	Weak transcription	HSMMtube	muscle
3	chr7:120783000-120817000	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr7:120783200-120822400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr7:120789800-120808000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr7:120789800-120822400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr7:120789800-120828800	Weak transcription	Left Ventricle	heart
8	chr7:120790200-120815200	Weak transcription	Ovary	ovary
9	chr7:120790600-120811800	Weak transcription	Stomach Smooth Muscle	stomach
10	chr7:120791000-120807000	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr7:120792400-120809800	Weak transcription	NHLF	lung
12	chr7:120792400-120818400	Weak transcription	Aorta	Aorta
13	chr7:120798600-120836000	Weak transcription	Adipose Nuclei	Adipose
14	chr7:120799200-120806800	Weak transcription	HSMM	muscle
15	chr7:120801000-120808400	Strong transcription	K562	blood
16	chr7:120801600-120809800	Weak transcription	Liver	Liver
17	chr7:120804200-120807200	Weak transcription	Primary B cells from cord blood	blood
18	chr7:120804600-120822400	Weak transcription	NHDF-Ad	bronchial
19	chr7:120804600-120825800	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr7:120804800-120806800	Weak transcription	Primary B cells from peripheral blood	blood
21	chr7:120806400-120813600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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