Variant report

Variant	rs6602819
Chromosome Location	chr10:5732852-5732853
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:5722939..5725566-chr10:5730999..5734048,3	K562	blood:
2	chr10:5732056..5734929-chr10:5855542..5857938,2	K562	blood:
3	chr10:5732626..5734143-chr10:5754788..5756828,2	K562	blood:
4	chr10:5731846..5734735-chr10:5789579..5792999,3	K562	blood:

Variant related genes	Relation type
ENSG00000226647	Chromatin interaction
ENSG00000272764	Chromatin interaction
ENSG00000057608	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10128251	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs10752281	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12359234	1.00[JPT][hapmap]
rs12762316	1.00[ASN][1000 genomes]
rs12777477	1.00[JPT][hapmap]
rs12777965	1.00[ASN][1000 genomes]
rs3209286	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4748018	1.00[ASN][1000 genomes]
rs7097144	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7908235	0.83[CEU][hapmap];0.84[EUR][1000 genomes]
rs7919913	1.00[JPT][hapmap]
rs9424204	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534685	chr10:4914018-5853324	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	esv2759729	chr10:5557024-5804780	Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	esv2758209	chr10:5637111-5804780	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	nsv549895	chr10:5712310-5735648	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	esv1796213	chr10:5716555-5766165	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv522415	chr10:5721653-5768493	Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	esv34147	chr10:5726821-6105717	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
8	esv34061	chr10:5726821-6225187	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:5727800-5733800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr10:5728000-5734400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr10:5728200-5733600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr10:5728200-5733800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr10:5728200-5733800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr10:5728200-5733800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr10:5728200-5733800	Weak transcription	Fetal Muscle Trunk	muscle
8	chr10:5728200-5733800	Weak transcription	Fetal Muscle Leg	muscle
9	chr10:5728200-5733800	Weak transcription	Gastric	stomach
10	chr10:5728200-5733800	Weak transcription	Lung	lung
11	chr10:5728200-5734000	Weak transcription	Esophagus	oesophagus
12	chr10:5728200-5734200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr10:5728200-5734400	Weak transcription	Aorta	Aorta
14	chr10:5728400-5734400	Weak transcription	HSMM	muscle
15	chr10:5728600-5733200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr10:5728600-5733400	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr10:5728600-5733600	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr10:5728600-5733600	Weak transcription	Fetal Heart	heart
19	chr10:5728600-5733800	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr10:5728600-5733800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr10:5728600-5733800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr10:5728600-5733800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr10:5728600-5733800	Weak transcription	Brain Germinal Matrix	brain
24	chr10:5728600-5733800	Weak transcription	Brain Substantia Nigra	brain
25	chr10:5728600-5733800	Weak transcription	Fetal Thymus	thymus
26	chr10:5728600-5733800	Weak transcription	Psoas Muscle	Psoas
27	chr10:5728600-5734000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr10:5728600-5734000	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr10:5728600-5734200	Enhancers	Primary T helper cells fromperipheralblood	blood
30	chr10:5728600-5734200	Weak transcription	Brain Hippocampus Middle	brain
31	chr10:5728600-5734200	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr10:5728600-5734200	Weak transcription	Right Ventricle	heart
33	chr10:5728600-5734200	Weak transcription	Stomach Smooth Muscle	stomach
34	chr10:5728600-5734200	Weak transcription	Thymus	Thymus
35	chr10:5728800-5733400	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr10:5728800-5733600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr10:5728800-5733600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr10:5728800-5733600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr10:5728800-5733600	Weak transcription	Liver	Liver
40	chr10:5728800-5733600	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr10:5728800-5733600	Weak transcription	NH-A	brain
42	chr10:5728800-5733600	Weak transcription	NHDF-Ad	bronchial
43	chr10:5728800-5733800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr10:5728800-5733800	Weak transcription	Primary neutrophils fromperipheralblood	blood
45	chr10:5728800-5733800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr10:5728800-5733800	Weak transcription	Fetal Lung	lung
47	chr10:5728800-5733800	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr10:5728800-5733800	Weak transcription	HUVEC	blood vessel
49	chr10:5728800-5733800	Weak transcription	Osteobl	bone
50	chr10:5728800-5734000	Weak transcription	Adipose Nuclei	Adipose

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