Variant report

Variant	rs7567202
Chromosome Location	chr2:30385901-30385902
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:30384606..30386933-chr2:30884491..30886230,2	K562	blood:
2	chr2:30312781..30315363-chr2:30384135..30387056,2	K562	blood:
3	chr2:30384538..30386096-chr2:30392392..30395121,2	MCF-7	breast:
4	chr2:30385694..30390672-chr2:30453095..30455897,4	K562	blood:
5	chr2:30385218..30387930-chr2:30389769..30391662,2	K562	blood:
6	chr2:30376495..30380497-chr2:30381287..30386120,8	K562	blood:
7	chr2:30382169..30383978-chr2:30384260..30386261,2	K562	blood:
8	chr2:30368086..30373772-chr2:30384153..30389116,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000119801	Chromatin interaction
ENSG00000213626	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1137288	0.83[CHB][hapmap];0.83[CHD][hapmap];0.92[JPT][hapmap];0.83[ASN][1000 genomes]
rs11886753	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12463847	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12469080	0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13397907	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13403749	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17009192	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2084335	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3087895	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3754535	1.00[CEU][hapmap];0.94[CHB][hapmap];0.95[CHD][hapmap];0.96[GIH][hapmap];0.92[JPT][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4951983	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4952095	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4952096	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4952098	1.00[CEU][hapmap];0.94[CHB][hapmap];0.92[CHD][hapmap];0.92[GIH][hapmap];0.92[JPT][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4952102	1.00[CEU][hapmap];0.94[CHB][hapmap];0.92[JPT][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4952105	0.87[CHB][hapmap];0.92[JPT][hapmap]
rs55735005	0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59074474	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7600457	0.83[CHB][hapmap];0.83[CHD][hapmap];0.92[JPT][hapmap];0.83[ASN][1000 genomes]
rs7603324	0.83[CHB][hapmap];0.83[CHD][hapmap];0.92[JPT][hapmap];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533886	chr2:30130019-31068764	ZNF genes & repeats Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv1002657	chr2:30339312-30516535	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30373200-30396400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:30374000-30386000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr2:30374000-30387400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr2:30374000-30387400	Weak transcription	Psoas Muscle	Psoas
5	chr2:30374000-30387400	Weak transcription	Hela-S3	cervix
6	chr2:30374400-30386200	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr2:30374600-30386200	Strong transcription	Primary neutrophils fromperipheralblood	blood
8	chr2:30374800-30387600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr2:30378400-30386000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr2:30378400-30386000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr2:30378600-30386200	Strong transcription	Primary T cells from cord blood	blood
12	chr2:30378800-30386000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr2:30382000-30387600	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr2:30382000-30389200	Weak transcription	Colonic Mucosa	Colon
15	chr2:30382200-30386000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr2:30382400-30386800	Weak transcription	Fetal Intestine Small	intestine
17	chr2:30382400-30387400	Weak transcription	NHLF	lung
18	chr2:30382400-30387600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr2:30382400-30387600	Weak transcription	Right Ventricle	heart
20	chr2:30382400-30387600	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr2:30382400-30389000	Weak transcription	Pancreas	Pancrea
22	chr2:30382400-30390400	Weak transcription	Esophagus	oesophagus
23	chr2:30382400-30392000	Weak transcription	Gastric	stomach
24	chr2:30382400-30393200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr2:30382400-30395600	Weak transcription	Aorta	Aorta
26	chr2:30382400-30400400	Weak transcription	Left Ventricle	heart
27	chr2:30382400-30400600	Weak transcription	Lung	lung
28	chr2:30382400-30400600	Weak transcription	Spleen	Spleen
29	chr2:30382600-30387200	Weak transcription	Brain Germinal Matrix	brain
30	chr2:30382800-30386200	Weak transcription	HepG2	liver
31	chr2:30382800-30387600	Weak transcription	Fetal Stomach	stomach
32	chr2:30383000-30387400	Weak transcription	A549	lung
33	chr2:30383200-30386800	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr2:30383200-30387600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr2:30383400-30386200	Strong transcription	Primary B cells from peripheral blood	blood
36	chr2:30383400-30387400	Weak transcription	NH-A	brain
37	chr2:30383400-30387600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr2:30383400-30387600	Weak transcription	Fetal Lung	lung
39	chr2:30383400-30387600	Weak transcription	Ovary	ovary
40	chr2:30383400-30387800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr2:30383400-30387800	Weak transcription	Brain Anterior Caudate	brain
42	chr2:30383400-30388200	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr2:30383400-30392000	Weak transcription	Fetal Muscle Trunk	muscle
44	chr2:30383400-30392200	Weak transcription	Thymus	Thymus
45	chr2:30383400-30393400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr2:30383400-30395200	Weak transcription	Fetal Heart	heart
47	chr2:30383600-30386600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr2:30383600-30387000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr2:30383600-30387400	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr2:30383600-30387400	Weak transcription	HMEC	breast

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