Variant report

Variant	rs71439274
Chromosome Location	chr2:40328688-40328689
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	GATA3	chr2:40328434-40328835	SH-SY5Y	brain:	n/a	n/a
2	TCF12	chr2:40328088-40328734	SK-N-SH	brain:	n/a	n/a
3	GATA3	chr2:40328140-40329006	SK-N-SH	brain:	n/a	n/a
4	PBX3	chr2:40328240-40328795	SK-N-SH	brain:	n/a	n/a
5	EBF1	chr2:40328094-40328703	GM12878	blood:	n/a	chr2:40328336-40328347 chr2:40328338-40328347
6	GATA2	chr2:40328443-40328763	SH-SY5Y	brain:	n/a	n/a

Variant related genes	Relation type
SLC8A1-AS1	TF binding region

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17025057	0.93[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs35392935	1.00[ASN][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:45 , 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	chr2:40321200-40354600	Weak transcription	Right Ventricle	heart
4	chr2:40322000-40330200	Enhancers	NH-A	brain
5	chr2:40322200-40330200	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr2:40322400-40329600	Weak transcription	Rectal Smooth Muscle	rectum
7	chr2:40322600-40330200	Weak transcription	Hela-S3	cervix
8	chr2:40322800-40329600	Weak transcription	Fetal Lung	lung
9	chr2:40322800-40350200	Weak transcription	Fetal Brain Male	brain
10	chr2:40323400-40332600	Enhancers	Osteobl	bone
11	chr2:40323600-40330000	Weak transcription	Colon Smooth Muscle	Colon
12	chr2:40324000-40328800	Weak transcription	Ovary	ovary
13	chr2:40324800-40329600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr2:40324800-40330200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr2:40325200-40330000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr2:40325200-40330200	Weak transcription	NHEK	skin
17	chr2:40326000-40333600	Enhancers	Fetal Heart	heart
18	chr2:40326400-40331000	Enhancers	Dnd41	blood
19	chr2:40326600-40333400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr2:40326800-40330200	Enhancers	NHLF	lung
21	chr2:40326800-40330400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr2:40327000-40329800	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr2:40327000-40331000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr2:40327200-40329600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr2:40327200-40330200	Enhancers	Muscle Satellite Cultured Cells	--
26	chr2:40327200-40331000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr2:40327400-40330200	Enhancers	HSMMtube	muscle
28	chr2:40327600-40329000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr2:40327600-40329000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr2:40327600-40329000	Enhancers	Fetal Intestine Large	intestine
31	chr2:40327600-40329800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr2:40327600-40329800	Enhancers	Fetal Thymus	thymus
33	chr2:40327800-40328800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr2:40327800-40330200	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr2:40327800-40330200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr2:40327800-40331200	Enhancers	Fetal Stomach	stomach
37	chr2:40327800-40331400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr2:40328000-40330000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr2:40328000-40365600	Weak transcription	Brain Germinal Matrix	brain
40	chr2:40328200-40329000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr2:40328200-40329000	Enhancers	HMEC	breast
42	chr2:40328600-40329600	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr2:40328600-40329800	Enhancers	Primary B cells from cord blood	blood
44	chr2:40328600-40329800	Enhancers	Pancreatic Islets	Pancreatic Islet
45	chr2:40328600-40330200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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