Variant report

Variant	rs2234069
Chromosome Location	chr6:36355483-36355484
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:36352878..36356022-chr6:36409199..36411763,4	K562	blood:
2	chr6:36352652..36355628-chr6:36561325..36563176,3	K562	blood:

Variant related genes	Relation type
ENSG00000179165	Chromatin interaction
ENSG00000112078	Chromatin interaction
ENSG00000112081	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1076929	0.84[EUR][1000 genomes]
rs10947604	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11755362	0.81[EUR][1000 genomes]
rs11759903	0.81[EUR][1000 genomes]
rs12181938	0.87[ASN][1000 genomes]
rs12660899	0.92[ASN][1000 genomes]
rs12663882	0.93[ASN][1000 genomes]
rs1358981	0.84[ASN][1000 genomes]
rs1535510	0.85[ASN][1000 genomes]
rs2057351	0.93[ASN][1000 genomes]
rs2180929	0.85[ASN][1000 genomes]
rs35323926	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4308555	0.84[EUR][1000 genomes]
rs4713968	0.81[EUR][1000 genomes]
rs4713972	0.89[ASN][1000 genomes]
rs4713973	0.87[ASN][1000 genomes]
rs56763433	0.85[ASN][1000 genomes]
rs58153398	0.89[ASN][1000 genomes]
rs59955083	0.85[ASN][1000 genomes]
rs67313027	0.93[ASN][1000 genomes]
rs6901513	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6912117	0.83[ASN][1000 genomes]
rs6917489	0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6923337	0.89[ASN][1000 genomes]
rs6941593	0.85[ASN][1000 genomes]
rs73408850	0.93[ASN][1000 genomes]
rs7745437	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7767377	0.86[ASN][1000 genomes]
rs7769765	0.84[ASN][1000 genomes]
rs881647	0.83[ASN][1000 genomes]
rs9470265	0.87[ASN][1000 genomes]
rs9470267	0.93[ASN][1000 genomes]
rs9470273	0.85[ASN][1000 genomes]
rs9470280	0.85[ASN][1000 genomes]
rs9654588	0.82[AMR][1000 genomes];0.93[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	nsv428481	chr6:36219000-36365746	Bivalent/Poised TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv885806	chr6:36349890-36621178	Flanking Bivalent TSS/Enh Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	103 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:36353600-36355800	Active TSS	Duodenum Smooth Muscle	Duodenum
2	chr6:36353800-36355800	Active TSS	Aorta	Aorta
3	chr6:36354000-36355600	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
4	chr6:36354000-36355800	Active TSS	Brain Substantia Nigra	brain
5	chr6:36354000-36355800	Active TSS	Stomach Mucosa	stomach
6	chr6:36354000-36356000	Active TSS	Breast Myoepithelial Primary Cells	Breast
7	chr6:36354000-36356000	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
8	chr6:36354000-36356000	Active TSS	Lung	lung
9	chr6:36354000-36356000	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
10	chr6:36354000-36356200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
11	chr6:36354000-36356200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr6:36354000-36356200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr6:36354000-36356200	Flanking Active TSS	Adipose Nuclei	Adipose
14	chr6:36354000-36356200	Active TSS	Brain Inferior Temporal Lobe	brain
15	chr6:36354000-36356200	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr6:36354000-36356200	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
17	chr6:36354000-36356200	Flanking Bivalent TSS/Enh	HepG2	liver
18	chr6:36354000-36356400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
19	chr6:36354200-36355600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr6:36354200-36355600	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
21	chr6:36354200-36355600	Active TSS	Esophagus	oesophagus
22	chr6:36354200-36355600	Bivalent/Poised TSS	Fetal Kidney	kidney
23	chr6:36354200-36355600	Active TSS	Small Intestine	intestine
24	chr6:36354200-36355800	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
25	chr6:36354200-36355800	Active TSS	Colon Smooth Muscle	Colon
26	chr6:36354200-36355800	Active TSS	Duodenum Mucosa	Duodenum
27	chr6:36354200-36355800	Active TSS	Ovary	ovary
28	chr6:36354200-36355800	Active TSS	Pancreas	Pancrea
29	chr6:36354200-36356000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
30	chr6:36354200-36356000	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
31	chr6:36354200-36356000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
32	chr6:36354200-36356000	Flanking Bivalent TSS/Enh	Muscle Satellite Cultured Cells	--
33	chr6:36354200-36356000	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
34	chr6:36354200-36356000	Active TSS	Brain Hippocampus Middle	brain
35	chr6:36354200-36356000	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
36	chr6:36354200-36356000	Active TSS	Gastric	stomach
37	chr6:36354200-36356200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
38	chr6:36354200-36356200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
39	chr6:36354200-36356200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
40	chr6:36354200-36356200	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
41	chr6:36354200-36356200	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
42	chr6:36354200-36356200	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
43	chr6:36354200-36356200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr6:36354200-36356200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
45	chr6:36354200-36356200	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
46	chr6:36354200-36356200	Active TSS	Sigmoid Colon	Sigmoid Colon
47	chr6:36354200-36356400	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
48	chr6:36354400-36355800	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr6:36354400-36355800	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
50	chr6:36354400-36356000	Flanking Bivalent TSS/Enh	NH-A	brain

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