Variant report

Variant	rs4952098
Chromosome Location	chr2:30338534-30338535
allele	G/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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:30337708..30339938-chr2:30369818..30372688,2	K562	blood:
2	chr2:30337916..30339804-chr2:30387115..30389293,2	MCF-7	breast:
3	chr2:30313353..30314464-chr2:30338280..30339527,8	K562	blood:
4	chr2:30313436..30314334-chr2:30338241..30339544,4	MCF-7	breast:
5	chr2:30312844..30314414-chr2:30338159..30339562,13	MCF-7	breast:
6	chr2:30337518..30339089-chr2:30368226..30369771,2	K562	blood:
7	chr2:30145465..30146046-chr2:30338062..30338817,2	MCF-7	breast:
8	chr2:30248896..30249567-chr2:30338389..30339014,2	MCF-7	breast:
9	chr2:30330132..30332963-chr2:30337824..30339590,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000119801	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1137288	0.85[JPT][hapmap];0.80[ASN][1000 genomes]
rs11886753	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12463847	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12469080	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13397907	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13403749	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17009192	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2084335	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3087895	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3754535	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4951983	1.00[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.92[GIH][hapmap];0.92[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4952095	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4952096	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4952102	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4952105	1.00[ASW][hapmap];0.81[CHB][hapmap];0.85[JPT][hapmap]
rs55735005	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59074474	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7567202	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]
rs7600457	0.80[CHD][hapmap];0.85[JPT][hapmap];0.80[ASN][1000 genomes]
rs7603324	0.80[CHD][hapmap];0.85[JPT][hapmap];0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30335800-30338800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr2:30336000-30338800	Enhancers	HMEC	breast
3	chr2:30336000-30338800	Enhancers	NHDF-Ad	bronchial
4	chr2:30336000-30339000	Enhancers	NHLF	lung
5	chr2:30336200-30338600	Enhancers	HSMMtube	muscle
6	chr2:30336200-30338800	Enhancers	HSMM	muscle
7	chr2:30336800-30338800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr2:30337000-30338600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr2:30337000-30341600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr2:30337200-30338800	Enhancers	Muscle Satellite Cultured Cells	--
11	chr2:30337600-30338600	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr2:30337600-30338600	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr2:30337800-30338600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr2:30337800-30338600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr2:30337800-30338600	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr2:30337800-30338800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr2:30338000-30338600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
18	chr2:30338000-30338600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr2:30338000-30338800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr2:30338200-30338600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr2:30338200-30338600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr2:30338200-30338600	Flanking Active TSS	Ovary	ovary
23	chr2:30338200-30338600	Flanking Active TSS	Osteobl	bone
24	chr2:30338200-30338800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr2:30338200-30338800	Enhancers	Brain Angular Gyrus	brain
26	chr2:30338200-30339200	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr2:30338400-30338600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
28	chr2:30338400-30338600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr2:30338400-30338600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr2:30338400-30338600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr2:30338400-30338600	Enhancers	Colon Smooth Muscle	Colon
32	chr2:30338400-30338600	Enhancers	Rectal Mucosa Donor 29	rectum
33	chr2:30338400-30338600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
34	chr2:30338400-30338600	Flanking Active TSS	A549	lung
35	chr2:30338400-30338600	Enhancers	HepG2	liver
36	chr2:30338400-30338600	Flanking Active TSS	NH-A	brain
37	chr2:30338400-30338800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr2:30338400-30338800	Enhancers	Duodenum Smooth Muscle	Duodenum
39	chr2:30338400-30338800	Enhancers	Rectal Mucosa Donor 31	rectum
40	chr2:30338400-30338800	Enhancers	Rectal Smooth Muscle	rectum
41	chr2:30338400-30338800	Enhancers	Stomach Mucosa	stomach
42	chr2:30338400-30339000	Enhancers	Brain Anterior Caudate	brain

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