Variant report

Variant	rs13390904
Chromosome Location	chr2:10529460-10529461
allele	A/G
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	chr2:10528376..10531284-chr2:10535022..10536565,2	K562	blood:
2	chr2:10509476..10512110-chr2:10528927..10531493,3	K562	blood:
3	chr2:10515447..10517814-chr2:10528411..10530379,2	MCF-7	breast:
4	chr2:10510027..10511914-chr2:10528767..10530427,2	K562	blood:
5	chr2:10392904..10395765-chr2:10528915..10531340,2	K562	blood:
6	chr2:10528701..10530809-chr2:10537442..10539772,2	K562	blood:
7	chr2:10526878..10529876-chr2:10534298..10536565,2	K562	blood:
8	chr2:10528409..10530378-chr2:10546581..10548332,2	MCF-7	breast:

No data

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11903181	1.00[AMR][1000 genomes]
rs13422289	1.00[AMR][1000 genomes]
rs60605867	1.00[AMR][1000 genomes]
rs73163033	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73180539	1.00[AMR][1000 genomes]
rs73914095	1.00[AMR][1000 genomes]
rs73914101	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530829	chr2:10357105-10655131	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
2	nsv873641	chr2:10480415-10544640	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv873642	chr2:10491985-10532869	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10517800-10531400	Enhancers	Lung	lung
2	chr2:10518000-10534800	Enhancers	Stomach Mucosa	stomach
3	chr2:10520600-10529800	Weak transcription	Brain Angular Gyrus	brain
4	chr2:10522400-10531600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr2:10523000-10529800	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr2:10523000-10541000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr2:10523200-10531800	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr2:10523200-10533000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr2:10523200-10534200	Enhancers	Primary T helper cells PMA-I stimulated	--
10	chr2:10523400-10530000	Enhancers	Primary T cells fromperipheralblood	blood
11	chr2:10523400-10532600	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr2:10523400-10534000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
13	chr2:10523400-10534200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr2:10523400-10537800	Weak transcription	Rectal Smooth Muscle	rectum
15	chr2:10523600-10539000	Weak transcription	Thymus	Thymus
16	chr2:10524200-10531200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr2:10524400-10530200	Weak transcription	Small Intestine	intestine
18	chr2:10524600-10530000	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr2:10524800-10536200	Weak transcription	Primary T cells from cord blood	blood
20	chr2:10525600-10532800	Weak transcription	Primary B cells from cord blood	blood
21	chr2:10525800-10530800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr2:10526000-10531000	Enhancers	Right Ventricle	heart
23	chr2:10526400-10529800	Weak transcription	Brain Hippocampus Middle	brain
24	chr2:10526600-10529800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr2:10526600-10531800	Weak transcription	HepG2	liver
26	chr2:10526600-10533400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr2:10526800-10529600	Weak transcription	Fetal Intestine Large	intestine
28	chr2:10526800-10529600	Weak transcription	NHEK	skin
29	chr2:10526800-10529800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr2:10526800-10532800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr2:10526800-10532800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr2:10526800-10537400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr2:10527000-10529600	Weak transcription	NHLF	lung
34	chr2:10527000-10529600	Weak transcription	Osteobl	bone
35	chr2:10527000-10532800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr2:10527200-10529600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr2:10527200-10529600	Weak transcription	NH-A	brain
38	chr2:10527200-10529800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr2:10527200-10530200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr2:10527200-10532800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr2:10527200-10542400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr2:10527400-10529600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr2:10527400-10530400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr2:10527400-10531600	Enhancers	Fetal Muscle Leg	muscle
45	chr2:10527600-10529600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr2:10527600-10529600	Weak transcription	Right Atrium	heart
47	chr2:10527600-10530000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr2:10527600-10531400	Enhancers	K562	blood
49	chr2:10527600-10532800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr2:10527600-10536200	Weak transcription	Fetal Stomach	stomach

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