Variant report

Variant	rs34347895
Chromosome Location	chr2:152954985-152954986
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:12)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:12 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SUZ12	chr2:152953899-152956422	NT2-D1	testis:	n/a	n/a
2	ZNF263	chr2:152953867-152956292	HEK293-T-REx	kidney:	n/a	chr2:152955418-152955439 chr2:152954806-152954815
3	MAX	chr2:152954427-152955096	H1-hESC	embryonic stem cell:	n/a	n/a
4	MTA3	chr2:152954766-152956281	GM12878	blood:	n/a	n/a
5	SIN3A	chr2:152954055-152954996	H1-hESC	embryonic stem cell:	n/a	chr2:152954768-152954781
6	E2F6	chr2:152954526-152955055	H1-hESC	embryonic stem cell:	n/a	chr2:152954822-152954834
7	MAX	chr2:152954450-152955020	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr2:152954483-152956221	GM12892	blood:	n/a	n/a
9	TCF3	chr2:152954740-152955091	GM12878	blood:	n/a	n/a
10	MAX	chr2:152954352-152955085	A549	lung:	n/a	n/a
11	ELF1	chr2:152954508-152956241	GM12878	blood:	n/a	chr2:152955557-152955569 chr2:152955218-152955230
12	E2F6	chr2:152954439-152956260	H1-hESC	embryonic stem cell:	n/a	chr2:152955643-152955652 chr2:152956200-152956208 chr2:152956200-152956208 chr2:152955641-152955650 chr2:152956199-152956209 chr2:152954822-152954834 chr2:152956201-152956208

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:152954970-152955020	MCF-7	breast:	n/a
2	chr2:152954970-152955020	HCT-116	colon:	n/a
3	chr2:152954970-152955020	T-47D	breast:	n/a
4	chr2:152954970-152955020	HUVEC	blood vessel:	n/a
5	chr2:152954970-152955020	ECC-1	luminal epithelium:	n/a
6	chr2:152954970-152955020	Jurkat	blood:	n/a
7	chr2:152954970-152955020	HCPEpiC	choroid plexus:	n/a
8	chr2:152954970-152955020	NT2-D1	testis:	n/a
9	chr2:152954970-152955020	U87	brain:	n/a
10	chr2:152954970-152955020	SK-N-MC	brain:	n/a
11	chr2:152954970-152955020	SK-N-SH	brain:	n/a
12	chr2:152954970-152955020	PrEC	prostate:	n/a
13	chr2:152954970-152955020	HEEpiC	esophagus:	n/a
14	chr2:152954970-152955020	Caco-2	colon:	n/a
15	chr2:152954970-152955020	Hela-S3	cervix:	n/a
16	chr2:152954970-152955020	HMEC	breast:	n/a
17	chr2:152954970-152955020	PFSK-1	brain:	n/a
18	chr2:152954970-152955020	GM12878	blood:	n/a
19	chr2:152954970-152955020	BE2_C	brain:	n/a
20	chr2:152954970-152955020	IMR90	lung:	fetal
21	chr2:152954970-152955020	HL-60	blood:	n/a
22	chr2:152954970-152955020	GM12892	blood:	n/a
23	chr2:152954970-152955020	SK-N-SH_RA	brain:	n/a
24	chr2:152954970-152955020	HPAEpiC	pulmonary alveolar:	n/a
25	chr2:152954970-152955020	AG04450	lung:	fetal
26	chr2:152954970-152955020	HIPEpiC	eye:	n/a
27	chr2:152954970-152955020	HCF	heart:	n/a
28	chr2:152954970-152955020	RPTEC	kidney:	n/a
29	chr2:152954970-152955020	HRE	kidney:	n/a
30	chr2:152954970-152955020	BJ	skin:	n/a
31	chr2:152954970-152955020	HRPEpiC	eye:	n/a
32	chr2:152954970-152955020	HCM	heart:	n/a
33	chr2:152954970-152955020	ovcar-3	ovarian:	n/a
34	chr2:152954970-152955020	HepG2	liver:	n/a
35	chr2:152954970-152955020	H1-hESC	embryonic stem cell:	embryo
36	chr2:152954970-152955020	SAEC	small airway:	n/a
37	chr2:152954970-152955020	NHDF-neo	bronchial:	n/a
38	chr2:152954970-152955020	NHBE	bronchial:	n/a
39	chr2:152954970-152955020	HAEpiC	amniotic membrane:	n/a
40	chr2:152954970-152955020	HRCEpiC	kidney:	n/a
41	chr2:152954970-152955020	CMK	blood:	n/a
42	chr2:152954970-152955020	ProgFib	skin:	n/a
43	chr2:152954970-152955020	HEK293	kidney:	embryo
44	chr2:152954970-152955020	HNPCEpiC	eye:	n/a
45	chr2:152954970-152955020	AG09319	gingival:	n/a
46	chr2:152954970-152955020	NB4	blood:	n/a
47	chr2:152954970-152955020	PANC-1	pancreas:	n/a
48	chr2:152954970-152955020	GM19239	blood:	n/a
49	chr2:152954970-152955020	SKMC	muscle:	n/a
50	chr2:152954970-152955020	MCF10A-Er-Src	breast:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:152954463..152956019-chr2:153031201..153033706,2	MCF-7	breast:

No data

Variant related genes	Relation type
CACNB4	TF binding region
CACNB4	CpG island
ENSG00000115145	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11895924	0.92[ASN][1000 genomes]
rs11901219	0.80[ASN][1000 genomes]
rs12622786	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16830686	0.82[ASN][1000 genomes]
rs35807334	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3820706	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6712788	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6725180	0.86[ASN][1000 genomes]
rs6726963	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005746	chr2:152361972-153059840	Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv535984	chr2:152361972-153059840	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	esv3693431	chr2:152683731-152981827	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv875287	chr2:152714680-153110573	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv875288	chr2:152716628-153183646	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
6	nsv875289	chr2:152720030-153183646	Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
7	esv1847028	chr2:152863856-153045036	Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:152953200-152956000	Active TSS	Brain Anterior Caudate	brain
2	chr2:152953400-152955800	Active TSS	Brain Cingulate Gyrus	brain
3	chr2:152953400-152955800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
4	chr2:152953600-152956200	Active TSS	Brain Angular Gyrus	brain
5	chr2:152953800-152955000	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr2:152953800-152955000	Flanking Bivalent TSS/Enh	Muscle Satellite Cultured Cells	--
7	chr2:152953800-152955400	Active TSS	Brain Hippocampus Middle	brain
8	chr2:152953800-152955600	Bivalent/Poised TSS	Monocytes-CD14+_RO01746	blood
9	chr2:152953800-152955800	Active TSS	Colon Smooth Muscle	Colon
10	chr2:152953800-152955800	Active TSS	Duodenum Smooth Muscle	Duodenum
11	chr2:152953800-152955800	Active TSS	GM12878-XiMat	blood
12	chr2:152953800-152956000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
13	chr2:152953800-152956200	Active TSS	Breast Myoepithelial Primary Cells	Breast
14	chr2:152953800-152956400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
15	chr2:152953800-152956400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
16	chr2:152954000-152955000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr2:152954000-152955000	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
18	chr2:152954000-152955000	Flanking Active TSS	Fetal Brain Male	brain
19	chr2:152954000-152955000	Flanking Bivalent TSS/Enh	HUVEC	blood vessel
20	chr2:152954000-152955000	Flanking Bivalent TSS/Enh	NH-A	brain
21	chr2:152954000-152955200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr2:152954000-152955400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr2:152954000-152955800	Active TSS	Aorta	Aorta
24	chr2:152954000-152955800	Flanking Active TSS	Liver	Liver
25	chr2:152954000-152955800	Active TSS	Ovary	ovary
26	chr2:152954000-152955800	Active TSS	Rectal Smooth Muscle	rectum
27	chr2:152954000-152956000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr2:152954000-152956000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr2:152954000-152956000	Active TSS	Esophagus	oesophagus
30	chr2:152954000-152956000	Active TSS	Pancreatic Islets	Pancreatic Islet
31	chr2:152954000-152956200	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
32	chr2:152954000-152956200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr2:152954200-152955000	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
34	chr2:152954200-152955200	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr2:152954200-152955200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
36	chr2:152954200-152955400	Flanking Active TSS	Placenta	Placenta
37	chr2:152954200-152955400	Active TSS	Left Ventricle	heart
38	chr2:152954200-152955600	Bivalent/Poised TSS	Osteobl	bone
39	chr2:152954200-152955800	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr2:152954200-152955800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr2:152954200-152955800	Bivalent/Poised TSS	Primary T cells from cord blood	blood
42	chr2:152954200-152955800	Bivalent/Poised TSS	Fetal Lung	lung
43	chr2:152954200-152955800	Bivalent/Poised TSS	Fetal Stomach	stomach
44	chr2:152954200-152956000	Bivalent/Poised TSS	Fetal Intestine Large	intestine
45	chr2:152954200-152956000	Active TSS	Gastric	stomach
46	chr2:152954200-152956000	Active TSS	Lung	lung
47	chr2:152954200-152956000	Active TSS	Pancreas	Pancrea
48	chr2:152954200-152956000	Active TSS	Right Ventricle	heart
49	chr2:152954200-152956000	Bivalent/Poised TSS	A549	lung
50	chr2:152954200-152956200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell

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