Variant report

Variant	rs3919540
Chromosome Location	chr2:40327091-40327092
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:40326874-40327121	ProgFib	skin:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLC8A1-1	chr2:40324916-40328505	NONHSAT070272

Variant related genes	Relation type
SLC8A1-AS1	TF binding region

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs57918209	0.84[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916300	chr2:40079899-40339019	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv833892	chr2:40188785-40363480	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv529606	chr2:40206280-40896881	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv873902	chr2:40231282-40466268	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv1004092	chr2:40264608-40451701	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv1000572	chr2:40271958-40458911	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv535654	chr2:40271958-40458911	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv581502	chr2:40273903-40459645	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv873903	chr2:40285145-40382712	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv873904	chr2:40292289-40466268	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv962064	chr2:40323393-40328838	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40320000-40332200	Enhancers	HSMM	muscle
2	chr2:40320000-40332600	Enhancers	NHDF-Ad	bronchial
3	chr2:40321200-40327600	Weak transcription	Fetal Intestine Large	intestine
4	chr2:40321200-40354600	Weak transcription	Right Ventricle	heart
5	chr2:40322000-40330200	Enhancers	NH-A	brain
6	chr2:40322200-40330200	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr2:40322400-40329600	Weak transcription	Rectal Smooth Muscle	rectum
8	chr2:40322600-40330200	Weak transcription	Hela-S3	cervix
9	chr2:40322800-40329600	Weak transcription	Fetal Lung	lung
10	chr2:40322800-40350200	Weak transcription	Fetal Brain Male	brain
11	chr2:40323400-40327200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr2:40323400-40328000	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr2:40323400-40332600	Enhancers	Osteobl	bone
14	chr2:40323600-40330000	Weak transcription	Colon Smooth Muscle	Colon
15	chr2:40324000-40328800	Weak transcription	Ovary	ovary
16	chr2:40324800-40329600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr2:40324800-40330200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr2:40325000-40327400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr2:40325200-40330000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr2:40325200-40330200	Weak transcription	NHEK	skin
21	chr2:40325600-40327400	Weak transcription	HSMMtube	muscle
22	chr2:40325600-40328200	Weak transcription	HMEC	breast
23	chr2:40325800-40328000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr2:40326000-40333600	Enhancers	Fetal Heart	heart
25	chr2:40326400-40327800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr2:40326400-40327800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr2:40326400-40327800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr2:40326400-40331000	Enhancers	Dnd41	blood
29	chr2:40326600-40333400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr2:40326800-40327200	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr2:40326800-40330200	Enhancers	NHLF	lung
32	chr2:40326800-40330400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr2:40327000-40327200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
34	chr2:40327000-40327400	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr2:40327000-40329800	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr2:40327000-40331000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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