Variant report

Variant	rs11556899
Chromosome Location	chr13:48807577-48807578
allele	C/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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:48806118..48810225-chr13:48876144..48879386,12	MCF-7	breast:
2	chr13:48807098..48807823-chr19:55895120..55896032,2	Hela-S3	cervix:
3	chr13:48806307..48808548-chr13:49152200..49154470,2	MCF-7	breast:
4	chr13:48807284..48807856-chr15:80351676..80352513,2	NB4	blood:
5	chr13:48612019..48613651-chr13:48806032..48808331,2	MCF-7	breast:
6	chr13:48806544..48809798-chr13:48876519..48878974,4	K562	blood:
7	chr13:48667088..48669248-chr13:48807095..48809011,2	K562	blood:
8	chr13:48807403..48809674-chr13:48828409..48830579,2	K562	blood:
9	chr13:48806826..48807726-chr6:111804447..111805411,2	HCT-116	colon:
10	chr13:48806625..48809806-chr13:48877426..48879405,3	K562	blood:
11	chr13:48667865..48670263-chr13:48806295..48809101,2	MCF-7	breast:
12	chr13:48668651..48670754-chr13:48805441..48808765,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000231889	Chromatin interaction
ENSG00000139687	Chromatin interaction
ENSG00000233610	Chromatin interaction
ENSG00000009413	Chromatin interaction
ENSG00000086666	Chromatin interaction
ENSG00000233493	Chromatin interaction
ENSG00000231473	Chromatin interaction
ENSG00000136143	Chromatin interaction
ENSG00000136146	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1002865	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs34692420	1.00[ASN][1000 genomes]
rs56955865	0.87[ASN][1000 genomes]
rs60372626	0.87[ASN][1000 genomes]
rs73485077	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73485079	0.87[ASN][1000 genomes]
rs7993670	1.00[ASN][1000 genomes]
rs7996717	1.00[ASN][1000 genomes]
rs7999809	0.87[ASN][1000 genomes]
rs8002352	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs8002765	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9332246	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9332285	0.87[ASN][1000 genomes]
rs9332304	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9595874	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9595875	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv541766	chr13:48703229-48857639	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv1043294	chr13:48762477-48810028	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48806000-48808200	Active TSS	Primary hematopoietic stem cells	blood
2	chr13:48806200-48809800	Active TSS	Brain Angular Gyrus	brain
3	chr13:48806600-48808400	Active TSS	H9 Cell Line	embryonic stem cell
4	chr13:48806600-48808400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
5	chr13:48806600-48808600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr13:48806600-48808800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr13:48806600-48809200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr13:48806600-48809400	Active TSS	HSMM	muscle
9	chr13:48806600-48809800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
10	chr13:48806600-48809800	Active TSS	H1 Cell Line	embryonic stem cell
11	chr13:48806600-48809800	Active TSS	Brain Substantia Nigra	brain
12	chr13:48806600-48810000	Active TSS	Colonic Mucosa	Colon
13	chr13:48806600-48810000	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr13:48806600-48810000	Active TSS	NHLF	lung
15	chr13:48806600-48810400	Active TSS	Aorta	Aorta
16	chr13:48806600-48811000	Active TSS	Psoas Muscle	Psoas
17	chr13:48806600-48811000	Active TSS	Right Ventricle	heart
18	chr13:48806600-48812200	Active TSS	Ovary	ovary
19	chr13:48806600-48812200	Active TSS	Right Atrium	heart
20	chr13:48806800-48807800	Active TSS	HepG2	liver
21	chr13:48806800-48808200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
22	chr13:48806800-48808200	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
23	chr13:48806800-48808400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr13:48806800-48808400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr13:48806800-48808400	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
26	chr13:48806800-48808400	Active TSS	Esophagus	oesophagus
27	chr13:48806800-48808400	Active TSS	Gastric	stomach
28	chr13:48806800-48808400	Active TSS	Pancreas	Pancrea
29	chr13:48806800-48808400	Active TSS	Placenta Amnion	Placenta Amnion
30	chr13:48806800-48808400	Active TSS	Sigmoid Colon	Sigmoid Colon
31	chr13:48806800-48808400	Active TSS	Small Intestine	intestine
32	chr13:48806800-48808600	Active TSS	HUES64 Cell Line	embryonic stem cell
33	chr13:48806800-48808600	Active TSS	Stomach Mucosa	stomach
34	chr13:48806800-48808800	Active TSS	Fetal Heart	heart
35	chr13:48806800-48809200	Active TSS	NH-A	brain
36	chr13:48806800-48809400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr13:48806800-48809400	Active TSS	HUES6 Cell Line	embryonic stem cell
38	chr13:48806800-48809400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
39	chr13:48806800-48809400	Active TSS	Primary T helper naive cells from peripheral blood	blood
40	chr13:48806800-48809400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
41	chr13:48806800-48809400	Active TSS	Rectal Mucosa Donor 31	rectum
42	chr13:48806800-48809800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr13:48806800-48809800	Active TSS	Duodenum Smooth Muscle	Duodenum
44	chr13:48806800-48809800	Active TSS	Skeletal Muscle Male	skeletal muscle
45	chr13:48806800-48810000	Active TSS	Primary T killer memory cells from peripheral blood	blood
46	chr13:48806800-48810000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr13:48806800-48810000	Active TSS	Colon Smooth Muscle	Colon
48	chr13:48806800-48810200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr13:48806800-48810200	Active TSS	Breast Myoepithelial Primary Cells	Breast
50	chr13:48806800-48810400	Active TSS	iPS-15b Cell Line	embryonic stem cell

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