Variant report

Variant	rs13385184
Chromosome Location	chr2:111882237-111882238
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:111881657..111883208-chr2:111900026..111902115,2	K562	blood:
2	chr2:111881798..111884548-chr3:37284411..37286120,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000270194	Chromatin interaction
ENSG00000144674	Chromatin interaction
ENSG00000176354	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10183015	1.00[AMR][1000 genomes]
rs10201315	1.00[AMR][1000 genomes]
rs10207934	1.00[AMR][1000 genomes]
rs13384042	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13385656	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13392334	1.00[AMR][1000 genomes]
rs13396421	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13396546	1.00[AMR][1000 genomes]
rs13396702	1.00[AMR][1000 genomes]
rs13401887	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13414732	1.00[AMR][1000 genomes]
rs13416396	1.00[AMR][1000 genomes]
rs13420352	1.00[AMR][1000 genomes]
rs13421031	1.00[AMR][1000 genomes]
rs13422314	1.00[AMR][1000 genomes]
rs13428866	1.00[AMR][1000 genomes]
rs13431579	1.00[AMR][1000 genomes]
rs28414521	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28580743	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28587034	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41309784	1.00[AMR][1000 genomes]
rs57271003	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58390260	1.00[AMR][1000 genomes]
rs60629616	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61539894	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73954939	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73954944	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7595612	1.00[AMR][1000 genomes]
rs9808226	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	nsv874838	chr2:111376870-112046226	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv834331	chr2:111812139-112004678	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv874842	chr2:111870220-111892984	Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:111881000-111882600	Weak transcription	Aorta	Aorta
2	chr2:111881000-111882600	Weak transcription	Gastric	stomach
3	chr2:111881200-111882400	Weak transcription	Colonic Mucosa	Colon
4	chr2:111881200-111882600	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr2:111881200-111882600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr2:111881200-111882600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr2:111881200-111882600	Enhancers	Fetal Heart	heart
8	chr2:111881200-111882600	Weak transcription	NH-A	brain
9	chr2:111881200-111882800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr2:111881200-111882800	Weak transcription	Psoas Muscle	Psoas
11	chr2:111881200-111883400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr2:111881200-111883600	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr2:111881200-111883800	Weak transcription	NHDF-Ad	bronchial
14	chr2:111881200-111888400	Weak transcription	HUVEC	blood vessel
15	chr2:111881200-111890800	Weak transcription	Right Ventricle	heart
16	chr2:111881200-111893600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr2:111881200-111894800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr2:111881200-111904200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr2:111881200-111909600	Weak transcription	NHLF	lung
20	chr2:111881200-111912800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr2:111881400-111882600	Weak transcription	Brain Substantia Nigra	brain
22	chr2:111881400-111883200	Strong transcription	NHEK	skin
23	chr2:111881400-111883400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr2:111881400-111886400	Weak transcription	Fetal Kidney	kidney
25	chr2:111881400-111891000	Strong transcription	HUES6 Cell Line	embryonic stem cell
26	chr2:111881600-111882400	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr2:111881600-111882400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr2:111881600-111882400	Genic enhancers	Primary T helper cells fromperipheralblood	blood
29	chr2:111881600-111882400	Weak transcription	Brain Cingulate Gyrus	brain
30	chr2:111881600-111882400	Weak transcription	Duodenum Mucosa	Duodenum
31	chr2:111881600-111882600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr2:111881600-111882600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr2:111881600-111882600	Weak transcription	Brain Anterior Caudate	brain
34	chr2:111881600-111882600	Strong transcription	Fetal Intestine Large	intestine
35	chr2:111881600-111882600	Weak transcription	Lung	lung
36	chr2:111881600-111882600	Weak transcription	Spleen	Spleen
37	chr2:111881600-111882800	Strong transcription	Brain Inferior Temporal Lobe	brain
38	chr2:111881600-111882800	Weak transcription	HSMM	muscle
39	chr2:111881600-111883000	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr2:111881600-111883200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr2:111881600-111883400	Strong transcription	Esophagus	oesophagus
42	chr2:111881600-111883600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr2:111881600-111884000	Genic enhancers	Liver	Liver
44	chr2:111881600-111884600	Genic enhancers	HepG2	liver
45	chr2:111881600-111885000	Strong transcription	Primary neutrophils fromperipheralblood	blood
46	chr2:111881600-111885000	Strong transcription	Primary B cells from peripheral blood	blood
47	chr2:111881600-111887600	Strong transcription	Placenta	Placenta
48	chr2:111881600-111888200	Strong transcription	A549	lung
49	chr2:111881600-111888400	Strong transcription	Rectal Mucosa Donor 29	rectum
50	chr2:111881600-111888600	Strong transcription	iPS-18 Cell Line	embryonic stem cell

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