Variant report

Variant	rs13426735
Chromosome Location	chr2:46981039-46981040
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:46924391..46926976-chr2:46980986..46983734,2	K562	blood:
2	chr2:46976318..46977932-chr2:46979350..46982138,4	K562	blood:

Variant related genes	Relation type
ENSG00000171150	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10187320	1.00[ASN][1000 genomes]
rs10192254	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs10196768	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10204610	0.89[ASN][1000 genomes]
rs10221923	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10439427	1.00[ASN][1000 genomes]
rs10439469	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12151534	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12329330	1.00[ASN][1000 genomes]
rs13391877	0.95[ASN][1000 genomes]
rs13402099	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs13412085	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13420535	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13424717	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13432741	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17770970	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17771838	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs35750425	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014425	chr2:46670179-47033417	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv535678	chr2:46670179-47033417	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv873996	chr2:46670941-47065227	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
5	nsv873997	chr2:46821640-46984627	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv1013079	chr2:46949337-46998417	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:46945400-46985400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr2:46955200-46984800	Weak transcription	Primary T cells fromperipheralblood	blood
3	chr2:46955200-46985400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr2:46960000-46988000	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr2:46962000-46982000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr2:46964800-46985800	Weak transcription	Primary B cells from cord blood	blood
7	chr2:46965800-46986800	Weak transcription	Hela-S3	cervix
8	chr2:46969400-46988200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr2:46972600-46986600	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr2:46973200-46981400	Enhancers	NHDF-Ad	bronchial
11	chr2:46973400-46985600	Weak transcription	Primary hematopoietic stem cells	blood
12	chr2:46974200-46983000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr2:46974600-46990000	Weak transcription	Colonic Mucosa	Colon
14	chr2:46974800-46985600	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr2:46974800-46986600	Weak transcription	Gastric	stomach
16	chr2:46975000-46985400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr2:46975000-46986800	Weak transcription	GM12878-XiMat	blood
18	chr2:46975600-46985400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr2:46975600-46985400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr2:46975600-46985400	Weak transcription	Fetal Muscle Trunk	muscle
21	chr2:46975600-46985400	Weak transcription	Lung	lung
22	chr2:46975600-46986000	Weak transcription	Esophagus	oesophagus
23	chr2:46975600-46986400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr2:46975800-46986800	Weak transcription	Pancreas	Pancrea
25	chr2:46976200-46984800	Weak transcription	Fetal Intestine Small	intestine
26	chr2:46976200-46990400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr2:46976400-46985400	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr2:46976400-46986600	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr2:46976600-46985400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr2:46976600-46986000	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr2:46976600-46986000	Weak transcription	Liver	Liver
32	chr2:46976600-46986000	Weak transcription	Stomach Smooth Muscle	stomach
33	chr2:46976800-46983800	Weak transcription	Rectal Smooth Muscle	rectum
34	chr2:46976800-46986000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr2:46976800-46986200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr2:46976800-46986600	Weak transcription	Brain Hippocampus Middle	brain
37	chr2:46976800-46986600	Weak transcription	HUVEC	blood vessel
38	chr2:46976800-46987200	Weak transcription	Fetal Kidney	kidney
39	chr2:46977000-46981800	Weak transcription	Colon Smooth Muscle	Colon
40	chr2:46977000-46984200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr2:46977000-46985400	Weak transcription	Adipose Nuclei	Adipose
42	chr2:46977000-46985400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr2:46977000-46986600	Weak transcription	Brain Substantia Nigra	brain
44	chr2:46977000-46988400	Weak transcription	Brain Angular Gyrus	brain
45	chr2:46977400-46983000	Weak transcription	Fetal Stomach	stomach
46	chr2:46977400-46985400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr2:46977400-46985400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr2:46977400-46985600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr2:46977400-46986200	Weak transcription	Aorta	Aorta
50	chr2:46978000-46986400	Weak transcription	Duodenum Smooth Muscle	Duodenum

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