Variant report

Variant	rs7593482
Chromosome Location	chr2:209129600-209129601
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:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:208393863..208396191-chr2:209128319..209130637,2	K562	blood:
2	chr2:209123964..209126958-chr2:209128019..209130689,2	K562	blood:
3	chr2:209128359..209130743-chr2:209169171..209171063,2	K562	blood:
4	chr2:209116323..209122695-chr2:209127326..209132568,14	K562	blood:
5	chr2:209119923..209123053-chr2:209129009..209130826,3	MCF-7	breast:
6	chr2:209116323..209123332-chr2:209127326..209134005,17	K562	blood:
7	chr2:209117138..209121626-chr2:209129108..209132782,7	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000223725	Chromatin interaction
ENSG00000231908	Chromatin interaction
ENSG00000118260	Chromatin interaction
ENSG00000138413	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1023751	1.00[AMR][1000 genomes]
rs10755022	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10932258	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs11674342	1.00[AMR][1000 genomes]
rs11690008	1.00[AMR][1000 genomes]
rs12464567	1.00[AMR][1000 genomes]
rs12474810	1.00[AMR][1000 genomes]
rs12694099	1.00[AMR][1000 genomes]
rs1348752	1.00[AMR][1000 genomes]
rs1446323	1.00[YRI][hapmap]
rs1529978	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1992740	1.00[AMR][1000 genomes]
rs2043718	1.00[AMR][1000 genomes]
rs2043719	1.00[AMR][1000 genomes]
rs2118298	1.00[AMR][1000 genomes]
rs2363464	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs4675756	1.00[AMR][1000 genomes]
rs6435421	1.00[AMR][1000 genomes]
rs6435422	1.00[AMR][1000 genomes]
rs6435423	1.00[AMR][1000 genomes]
rs6435424	1.00[AMR][1000 genomes]
rs6435432	1.00[AMR][1000 genomes]
rs6435438	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6706160	1.00[AMR][1000 genomes]
rs6728979	1.00[AMR][1000 genomes]
rs6748431	1.00[AMR][1000 genomes]
rs6755550	1.00[AMR][1000 genomes]
rs796269	1.00[AMR][1000 genomes]
rs935366	1.00[AMR][1000 genomes]
rs9808144	1.00[AMR][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	nsv1010531	chr2:208610639-209176782	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv536130	chr2:208610639-209176782	Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv534496	chr2:208814372-209302791	Strong transcription Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	nsv834517	chr2:209006797-209170269	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv584297	chr2:209020181-209316760	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:209120800-209129800	Weak transcription	Duodenum Mucosa	Duodenum
2	chr2:209121200-209129600	Weak transcription	Left Ventricle	heart
3	chr2:209122200-209129600	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr2:209122400-209129600	Weak transcription	Brain Substantia Nigra	brain
5	chr2:209122600-209129600	Weak transcription	Brain Angular Gyrus	brain
6	chr2:209122800-209129600	Weak transcription	Brain Cingulate Gyrus	brain
7	chr2:209122800-209129600	Weak transcription	Fetal Intestine Small	intestine
8	chr2:209122800-209129600	Weak transcription	Fetal Lung	lung
9	chr2:209123200-209129800	Weak transcription	Fetal Heart	heart
10	chr2:209127600-209129600	Weak transcription	Primary T cells from cord blood	blood
11	chr2:209128600-209129600	Enhancers	Dnd41	blood
12	chr2:209128800-209129600	Enhancers	HepG2	liver
13	chr2:209128800-209129800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr2:209128800-209129800	Enhancers	NHDF-Ad	bronchial
15	chr2:209129200-209129600	Active TSS	Stomach Smooth Muscle	stomach
16	chr2:209129400-209129600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr2:209129400-209129600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr2:209129400-209129600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr2:209129400-209129600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
20	chr2:209129400-209129600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr2:209129400-209129600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr2:209129400-209129600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr2:209129400-209129800	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr2:209129400-209129800	Enhancers	Primary B cells from cord blood	blood
25	chr2:209129400-209129800	Enhancers	Primary B cells from peripheral blood	blood
26	chr2:209129400-209129800	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr2:209129400-209129800	Enhancers	Primary T helper cells PMA-I stimulated	--
28	chr2:209129400-209129800	Enhancers	A549	lung
29	chr2:209129400-209130000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
30	chr2:209129600-209129800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr2:209129600-209129800	Active TSS	HUES6 Cell Line	embryonic stem cell
32	chr2:209129600-209129800	Active TSS	HUES64 Cell Line	embryonic stem cell
33	chr2:209129600-209129800	Active TSS	iPS-15b Cell Line	embryonic stem cell
34	chr2:209129600-209129800	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr2:209129600-209129800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr2:209129600-209129800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr2:209129600-209129800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr2:209129600-209129800	Enhancers	Primary T cells from cord blood	blood
39	chr2:209129600-209129800	Enhancers	Primary T cells fromperipheralblood	blood
40	chr2:209129600-209129800	Enhancers	Primary hematopoietic stem cells	blood
41	chr2:209129600-209129800	Enhancers	Primary T helper naive cells from peripheral blood	blood
42	chr2:209129600-209129800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
43	chr2:209129600-209129800	Enhancers	Primary T helper cells fromperipheralblood	blood
44	chr2:209129600-209129800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr2:209129600-209129800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
46	chr2:209129600-209129800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr2:209129600-209129800	Enhancers	Muscle Satellite Cultured Cells	--
48	chr2:209129600-209129800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr2:209129600-209129800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr2:209129600-209129800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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