Variant report

Variant	rs73119213
Chromosome Location	chr12:56103744-56103745
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:1)
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	chr12:56103744-56103794	AG04449	skin:	fetal
2	chr12:56103744-56103794	HMEC	breast:	n/a
3	chr12:56103744-56103794	NHDF-neo	bronchial:	n/a
4	chr12:56103744-56103794	PANC-1	pancreas:	n/a
5	chr12:56103744-56103794	Caco-2	colon:	n/a
6	chr12:56103744-56103794	HCPEpiC	choroid plexus:	n/a
7	chr12:56103744-56103794	HCM	heart:	n/a
8	chr12:56103744-56103794	IMR90	lung:	fetal
9	chr12:56103744-56103794	Hela-S3	cervix:	n/a
10	chr12:56103744-56103794	NHBE	bronchial:	n/a
11	chr12:56103744-56103794	SKMC	muscle:	n/a
12	chr12:56103744-56103794	AG09309	skin:	n/a
13	chr12:56103744-56103794	GM12892	blood:	n/a
14	chr12:56103744-56103794	GM12878	blood:	n/a
15	chr12:56103744-56103794	HRPEpiC	eye:	n/a
16	chr12:56103744-56103794	AG09319	gingival:	n/a
17	chr12:56103744-56103794	HL-60	blood:	n/a
18	chr12:56103744-56103794	GM06990	blood:	n/a
19	chr12:56103744-56103794	A549	lung:	n/a
20	chr12:56103744-56103794	HRE	kidney:	n/a
21	chr12:56103744-56103794	AoSMC	blood vessel:	n/a
22	chr12:56103744-56103794	CMK	blood:	n/a
23	chr12:56103744-56103794	GM12891	blood:	n/a
24	chr12:56103744-56103794	BJ	skin:	n/a
25	chr12:56103744-56103794	ProgFib	skin:	n/a
26	chr12:56103744-56103794	ovcar-3	ovarian:	n/a
27	chr12:56103744-56103794	RPTEC	kidney:	n/a
28	chr12:56103744-56103794	U87	brain:	n/a
29	chr12:56103744-56103794	SK-N-MC	brain:	n/a
30	chr12:56103744-56103794	HAEpiC	amniotic membrane:	n/a
31	chr12:56103744-56103794	PrEC	prostate:	n/a
32	chr12:56103744-56103794	HEK293	kidney:	embryo
33	chr12:56103744-56103794	HPAEpiC	pulmonary alveolar:	n/a
34	chr12:56103744-56103794	SK-N-SH	brain:	n/a
35	chr12:56103744-56103794	AG04450	lung:	fetal
36	chr12:56103744-56103794	Jurkat	blood:	n/a
37	chr12:56103744-56103794	NH-A	brain:	n/a
38	chr12:56103744-56103794	LNCaP	prostate:	n/a
39	chr12:56103744-56103794	SAEC	small airway:	n/a
40	chr12:56103744-56103794	HCT-116	colon:	n/a
41	chr12:56103744-56103794	HNPCEpiC	eye:	n/a
42	chr12:56103744-56103794	HepG2	liver:	n/a
43	chr12:56103744-56103794	T-47D	breast:	n/a
44	chr12:56103744-56103794	BE2_C	brain:	n/a
45	chr12:56103744-56103794	HIPEpiC	eye:	n/a
46	chr12:56103744-56103794	H1-hESC	embryonic stem cell:	embryo
47	chr12:56103744-56103794	PFSK-1	brain:	n/a
48	chr12:56103744-56103794	HCF	heart:	n/a
49	chr12:56103744-56103794	NB4	blood:	n/a
50	chr12:56103744-56103794	K562	blood:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:56098605..56104708-chr12:56107025..56111403,7	MCF-7	breast:

No data

Variant related genes	Relation type
ITGA7	CpG island
ENSG00000258311	Chromatin interaction
ENSG00000135424	Chromatin interaction
ENSG00000135441	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11613875	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11615467	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17117860	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17117883	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17117895	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs60169753	0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948625	chr12:55838718-56118833	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv525231	chr12:56076919-56124332	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
3	nsv832423	chr12:56080822-56253698	Flanking Active TSS Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
4	nsv469410	chr12:56098038-56170893	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
5	nsv559004	chr12:56098038-56170893	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:56097400-56105000	Active TSS	Aorta	Aorta
2	chr12:56097800-56107400	Active TSS	Left Ventricle	heart
3	chr12:56102000-56103800	Flanking Active TSS	Adipose Nuclei	Adipose
4	chr12:56102000-56103800	Flanking Active TSS	Fetal Heart	heart
5	chr12:56102200-56103800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr12:56102400-56103800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
7	chr12:56102400-56103800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
8	chr12:56102600-56103800	Bivalent Enhancer	Fetal Muscle Leg	muscle
9	chr12:56102600-56103800	Enhancers	Rectal Smooth Muscle	rectum
10	chr12:56102600-56103800	Enhancers	NHLF	lung
11	chr12:56102600-56104000	Enhancers	HSMMtube	muscle
12	chr12:56102600-56106400	Weak transcription	Liver	Liver
13	chr12:56102600-56109000	Weak transcription	Brain Angular Gyrus	brain
14	chr12:56102600-56109200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr12:56102800-56103800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr12:56102800-56103800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr12:56102800-56103800	Weak transcription	Psoas Muscle	Psoas
18	chr12:56102800-56104000	Enhancers	Osteobl	bone
19	chr12:56102800-56104400	Weak transcription	Ovary	ovary
20	chr12:56102800-56106200	Weak transcription	Brain Cingulate Gyrus	brain
21	chr12:56102800-56106400	Weak transcription	Brain Germinal Matrix	brain
22	chr12:56102800-56107800	Enhancers	Colon Smooth Muscle	Colon
23	chr12:56102800-56107800	Active TSS	Right Atrium	heart
24	chr12:56102800-56107800	Active TSS	Right Ventricle	heart
25	chr12:56102800-56109000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr12:56102800-56109200	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr12:56102800-56109200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr12:56102800-56109200	Weak transcription	Spleen	Spleen
29	chr12:56103000-56103800	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr12:56103000-56103800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr12:56103000-56103800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr12:56103000-56103800	Enhancers	NHDF-Ad	bronchial
33	chr12:56103000-56105600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr12:56103000-56105600	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr12:56103000-56105800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr12:56103000-56105800	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr12:56103200-56103800	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
38	chr12:56103200-56103800	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
39	chr12:56103400-56104000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr12:56103400-56104000	Active TSS	Stomach Smooth Muscle	stomach
41	chr12:56103400-56106200	Weak transcription	Brain Hippocampus Middle	brain
42	chr12:56103400-56106200	Weak transcription	Brain Substantia Nigra	brain
43	chr12:56103400-56106600	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr12:56103600-56103800	Enhancers	K562	blood
45	chr12:56103600-56104200	Active TSS	Fetal Muscle Trunk	muscle
46	chr12:56103600-56105600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr12:56103600-56105600	Weak transcription	Brain Anterior Caudate	brain
48	chr12:56103600-56105600	Active TSS	Skeletal Muscle Female	skeletal muscle
49	chr12:56103600-56105600	Weak transcription	HSMM	muscle
50	chr12:56103600-56106000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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