Variant report

Variant	rs11155339
Chromosome Location	chr6:144327428-144327429
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:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:144274204..144276778-chr6:144326473..144328934,2	K562	blood:
2	chr6:143830342..143833743-chr6:144326901..144329456,3	K562	blood:
3	chr6:144318653..144320908-chr6:144327115..144329301,2	MCF-7	breast:
4	chr6:144162948..144166199-chr6:144325900..144330312,6	K562	blood:
5	chr6:144284921..144286601-chr6:144327267..144329714,2	K562	blood:
6	chr6:144321371..144324041-chr6:144325680..144328312,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SF3B5-2	chr6:144325474-144329867	NONHSAT115373

No data

Variant related genes	Relation type
ENSG00000118495	Chromatin interaction
ENSG00000135521	Chromatin interaction
ENSG00000001036	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12524155	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12528481	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12529147	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2281476	0.90[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs28364590	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs55769736	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs56360488	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6937128	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6937531	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73006291	0.88[AFR][1000 genomes];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7773278	0.84[AFR][1000 genomes]
rs9766199	0.84[AFR][1000 genomes];0.90[EUR][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	esv3408554	chr6:144106707-144369589	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	esv3522138	chr6:144174685-144367463	Enhancers Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	esv3522139	chr6:144174685-144367463	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv830830	chr6:144177942-144380870	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv5516	chr6:144300321-144345812	Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:144322800-144327600	Weak transcription	Brain Cingulate Gyrus	brain
2	chr6:144324400-144327600	Weak transcription	Primary hematopoietic stem cells	blood
3	chr6:144325200-144330000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr6:144326000-144330000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr6:144326200-144329600	Active TSS	Fetal Muscle Leg	muscle
6	chr6:144326200-144330000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr6:144326600-144330200	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr6:144327200-144327800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr6:144327200-144328000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr6:144327200-144329800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr6:144327200-144329800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
12	chr6:144327200-144329800	Active TSS	Fetal Intestine Large	intestine
13	chr6:144327200-144329800	Active TSS	Fetal Muscle Trunk	muscle
14	chr6:144327200-144329800	Active TSS	Fetal Stomach	stomach
15	chr6:144327200-144329800	Active TSS	K562	blood
16	chr6:144327200-144329800	Active TSS	NHLF	lung
17	chr6:144327200-144330000	Active TSS	Stomach Smooth Muscle	stomach
18	chr6:144327200-144330000	Active TSS	NHDF-Ad	bronchial
19	chr6:144327400-144327600	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr6:144327400-144327600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr6:144327400-144327600	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr6:144327400-144327600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr6:144327400-144327600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr6:144327400-144327600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr6:144327400-144327600	Flanking Active TSS	Adipose Nuclei	Adipose
26	chr6:144327400-144327600	Flanking Active TSS	Fetal Brain Male	brain
27	chr6:144327400-144327600	Enhancers	Rectal Mucosa Donor 31	rectum
28	chr6:144327400-144327800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
29	chr6:144327400-144327800	Flanking Active TSS	Fetal Intestine Small	intestine
30	chr6:144327400-144327800	Flanking Active TSS	Hela-S3	cervix
31	chr6:144327400-144327800	Flanking Active TSS	HMEC	breast
32	chr6:144327400-144327800	Flanking Active TSS	HUVEC	blood vessel
33	chr6:144327400-144327800	Flanking Active TSS	NH-A	brain
34	chr6:144327400-144327800	Flanking Active TSS	Osteobl	bone
35	chr6:144327400-144328000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr6:144327400-144328000	Enhancers	Fetal Heart	heart
37	chr6:144327400-144328200	Enhancers	Fetal Thymus	thymus
38	chr6:144327400-144329000	Active TSS	Placenta	Placenta
39	chr6:144327400-144329400	Active TSS	Colon Smooth Muscle	Colon
40	chr6:144327400-144329600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr6:144327400-144329600	Active TSS	Colonic Mucosa	Colon
42	chr6:144327400-144329800	Active TSS	Left Ventricle	heart
43	chr6:144327400-144329800	Active TSS	HSMMtube	muscle
44	chr6:144327400-144330000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
45	chr6:144327400-144330000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr6:144327400-144330000	Active TSS	Aorta	Aorta
47	chr6:144327400-144330000	Active TSS	Duodenum Smooth Muscle	Duodenum
48	chr6:144327400-144330000	Active TSS	Fetal Brain Female	brain
49	chr6:144327400-144330000	Active TSS	Fetal Lung	lung
50	chr6:144327400-144330000	Active TSS	Ovary	ovary

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