Variant report

Variant	rs72613874
Chromosome Location	chr2:40739784-40739785
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:40739771-40739821	NB4	blood:	n/a
2	chr2:40739771-40739821	HRCEpiC	kidney:	n/a
3	chr2:40739771-40739821	MCF10A-Er-Src	breast:	n/a
4	chr2:40739771-40739821	HCM	heart:	n/a
5	chr2:40739771-40739821	Hela-S3	cervix:	n/a
6	chr2:40739771-40739821	Jurkat	blood:	n/a
7	chr2:40739771-40739821	HAEpiC	amniotic membrane:	n/a
8	chr2:40739771-40739821	NHDF-neo	bronchial:	n/a
9	chr2:40739771-40739821	SAEC	small airway:	n/a
10	chr2:40739771-40739821	ECC-1	luminal epithelium:	n/a
11	chr2:40739771-40739821	HCPEpiC	choroid plexus:	n/a
12	chr2:40739771-40739821	AG10803	skin:	n/a
13	chr2:40739771-40739821	HL-60	blood:	n/a
14	chr2:40739771-40739821	K562	blood:	n/a
15	chr2:40739771-40739821	AoSMC	blood vessel:	n/a
16	chr2:40739771-40739821	NT2-D1	testis:	n/a
17	chr2:40739771-40739821	BE2_C	brain:	n/a
18	chr2:40739771-40739821	U87	brain:	n/a
19	chr2:40739771-40739821	IMR90	lung:	fetal
20	chr2:40739771-40739821	SK-N-SH_RA	brain:	n/a
21	chr2:40739771-40739821	MCF-7	breast:	n/a
22	chr2:40739771-40739821	NHBE	bronchial:	n/a
23	chr2:40739771-40739821	GM19239	blood:	n/a
24	chr2:40739771-40739821	PrEC	prostate:	n/a
25	chr2:40739771-40739821	NH-A	brain:	n/a
26	chr2:40739771-40739821	HUVEC	blood vessel:	n/a
27	chr2:40739771-40739821	HCF	heart:	n/a
28	chr2:40739771-40739821	GM12891	blood:	n/a
29	chr2:40739771-40739821	GM12878	blood:	n/a
30	chr2:40739771-40739821	AG09309	skin:	n/a
31	chr2:40739771-40739821	CMK	blood:	n/a
32	chr2:40739771-40739821	HIPEpiC	eye:	n/a
33	chr2:40739771-40739821	RPTEC	kidney:	n/a
34	chr2:40739771-40739821	Caco-2	colon:	n/a
35	chr2:40739771-40739821	Hepatocyte	liver:	n/a
36	chr2:40739771-40739821	AG09319	gingival:	n/a
37	chr2:40739771-40739821	BJ	skin:	n/a
38	chr2:40739771-40739821	LNCaP	prostate:	n/a
39	chr2:40739771-40739821	T-47D	breast:	n/a
40	chr2:40739771-40739821	HNPCEpiC	eye:	n/a
41	chr2:40739771-40739821	A549	lung:	n/a
42	chr2:40739771-40739821	PANC-1	pancreas:	n/a
43	chr2:40739771-40739821	SK-N-MC	brain:	n/a
44	chr2:40739771-40739821	HEK293	kidney:	embryo
45	chr2:40739771-40739821	HEEpiC	esophagus:	n/a
46	chr2:40739771-40739821	HRPEpiC	eye:	n/a
47	chr2:40739771-40739821	PFSK-1	brain:	n/a
48	chr2:40739771-40739821	ProgFib	skin:	n/a
49	chr2:40739771-40739821	HRE	kidney:	n/a
50	chr2:40739771-40739821	AG04450	lung:	fetal

No data

Variant related genes	Relation type
SLC8A1	CpG island

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12468667	0.91[AMR][1000 genomes]
rs12479405	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12619139	0.94[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs17026097	0.94[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4952627	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6736914	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72613873	0.91[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv873911	chr2:40423454-41161464	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv873917	chr2:40710953-41015998	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40734800-40740600	Active TSS	Right Atrium	heart
2	chr2:40736000-40740000	Active TSS	Right Ventricle	heart
3	chr2:40736800-40740200	Active TSS	Stomach Smooth Muscle	stomach
4	chr2:40737400-40740200	Active TSS	Colon Smooth Muscle	Colon
5	chr2:40737600-40740000	Active TSS	Rectal Smooth Muscle	rectum
6	chr2:40738600-40739800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr2:40738600-40739800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr2:40738600-40739800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
9	chr2:40738600-40739800	Flanking Active TSS	Hela-S3	cervix
10	chr2:40738600-40739800	Flanking Active TSS	HUVEC	blood vessel
11	chr2:40738600-40740000	Flanking Active TSS	Adipose Nuclei	Adipose
12	chr2:40738600-40740200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
13	chr2:40738600-40741600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
14	chr2:40738800-40739800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr2:40738800-40739800	Active TSS	Aorta	Aorta
16	chr2:40738800-40739800	Active TSS	Brain Inferior Temporal Lobe	brain
17	chr2:40738800-40739800	Active TSS	Duodenum Mucosa	Duodenum
18	chr2:40738800-40739800	Active TSS	Fetal Kidney	kidney
19	chr2:40738800-40739800	Active TSS	Left Ventricle	heart
20	chr2:40738800-40739800	Active TSS	Ovary	ovary
21	chr2:40738800-40740000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
22	chr2:40738800-40741000	Active TSS	Primary B cells from cord blood	blood
23	chr2:40739000-40739800	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr2:40739000-40739800	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr2:40739000-40739800	Active TSS	Rectal Mucosa Donor 31	rectum
26	chr2:40739000-40739800	Active TSS	Skeletal Muscle Male	skeletal muscle
27	chr2:40739000-40740000	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr2:40739200-40739800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr2:40739200-40739800	Flanking Active TSS	Fetal Muscle Leg	muscle
30	chr2:40739200-40739800	Enhancers	HSMM	muscle
31	chr2:40739200-40741000	Active TSS	Primary hematopoietic stem cells	blood
32	chr2:40739400-40739800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr2:40739400-40739800	Flanking Active TSS	Fetal Stomach	stomach
34	chr2:40739400-40739800	Enhancers	NHDF-Ad	bronchial
35	chr2:40739400-40739800	Flanking Active TSS	Osteobl	bone
36	chr2:40739400-40740000	Active TSS	Fetal Brain Female	brain
37	chr2:40739400-40740200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr2:40739400-40740200	Active TSS	Fetal Lung	lung
39	chr2:40739600-40739800	Enhancers	H9 Cell Line	embryonic stem cell
40	chr2:40739600-40739800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr2:40739600-40739800	Weak transcription	Fetal Heart	heart
42	chr2:40739600-40739800	Enhancers	Placenta	Placenta
43	chr2:40739600-40739800	Enhancers	Psoas Muscle	Psoas
44	chr2:40739600-40739800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
45	chr2:40739600-40739800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
46	chr2:40739600-40739800	Enhancers	NH-A	brain
47	chr2:40739600-40739800	Flanking Active TSS	NHLF	lung
48	chr2:40739600-40740000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum

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