Variant report

Variant	rs6504285
Chromosome Location	chr17:63225319-63225320
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:63223689..63225402-chr17:63552714..63555075,2	MCF-7	breast:
2	chr17:63223927..63226638-chr17:63237839..63240467,2	K562	blood:
3	chr17:63220426..63221946-chr17:63223585..63225928,2	K562	blood:
4	chr17:63128086..63129836-chr17:63224877..63226699,2	K562	blood:
5	chr17:63222163..63226262-chr17:63226769..63229619,4	MCF-7	breast:
6	chr17:63223609..63225528-chr17:63228836..63231724,2	K562	blood:

Variant related genes	Relation type
ENSG00000168646	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs2869585	1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2869587	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2904133	1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs59400153	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61534937	0.98[AFR][1000 genomes]
rs6504282	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6504283	1.00[JPT][hapmap];0.96[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6504284	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7217524	0.92[AFR][1000 genomes]
rs7217548	0.94[AFR][1000 genomes]
rs7218518	0.94[AFR][1000 genomes]
rs73994758	0.94[AFR][1000 genomes]
rs73994761	0.94[AFR][1000 genomes]
rs73994763	0.94[AFR][1000 genomes]
rs73994764	0.94[AFR][1000 genomes]
rs73994765	0.94[AFR][1000 genomes]
rs73994767	0.98[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73994770	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73994771	0.98[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs8065438	0.92[AFR][1000 genomes]
rs8066063	0.94[AFR][1000 genomes]
rs8066072	0.94[AFR][1000 genomes]
rs8068016	0.90[AFR][1000 genomes]
rs8073544	1.00[JPT][hapmap];0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs8073716	1.00[JPT][hapmap];0.98[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs8077510	0.96[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs8077956	1.00[JPT][hapmap];0.98[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs8078032	0.98[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs8078045	0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs8078298	1.00[JPT][hapmap];0.98[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs8078885	1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[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	nsv530764	chr17:62939944-63278472	Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv482610	chr17:63214370-63372334	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:63221600-63228000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr17:63223400-63225400	Enhancers	Spleen	Spleen
3	chr17:63223600-63225400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr17:63223800-63226200	Enhancers	Primary hematopoietic stem cells	blood
5	chr17:63224000-63226400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr17:63224200-63225400	Enhancers	Placenta	Placenta
7	chr17:63224200-63225800	Enhancers	Duodenum Smooth Muscle	Duodenum
8	chr17:63224400-63225400	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr17:63224400-63225400	Flanking Active TSS	K562	blood
10	chr17:63224400-63225600	Enhancers	Fetal Lung	lung
11	chr17:63224400-63225800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr17:63224400-63225800	Enhancers	Esophagus	oesophagus
13	chr17:63224400-63226200	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr17:63224400-63226200	Enhancers	Duodenum Mucosa	Duodenum
15	chr17:63224400-63226400	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr17:63224400-63226600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr17:63224400-63226800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr17:63224600-63225400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
19	chr17:63224600-63225400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
20	chr17:63224600-63225400	Enhancers	Fetal Thymus	thymus
21	chr17:63224600-63225400	Enhancers	Osteobl	bone
22	chr17:63224600-63225600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr17:63224600-63225600	Enhancers	NH-A	brain
24	chr17:63224600-63225800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr17:63224600-63225800	Flanking Active TSS	GM12878-XiMat	blood
26	chr17:63224600-63226000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr17:63224600-63226200	Enhancers	Primary T killer memory cells from peripheral blood	blood
28	chr17:63224600-63226800	Enhancers	Primary T cells fromperipheralblood	blood
29	chr17:63224800-63225400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr17:63224800-63225400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
31	chr17:63224800-63225400	Enhancers	Fetal Intestine Large	intestine
32	chr17:63224800-63225400	Enhancers	Rectal Mucosa Donor 31	rectum
33	chr17:63224800-63225600	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr17:63224800-63225600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr17:63224800-63225600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr17:63224800-63225600	Enhancers	HSMM	muscle
37	chr17:63224800-63225800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr17:63225000-63225400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr17:63225000-63225400	Active TSS	Primary T helper naive cells from peripheral blood	blood
40	chr17:63225000-63225400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
41	chr17:63225000-63225400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr17:63225000-63225400	Enhancers	Fetal Intestine Small	intestine
43	chr17:63225000-63225400	Active TSS	Rectal Mucosa Donor 29	rectum
44	chr17:63225000-63225600	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr17:63225000-63225600	Enhancers	Fetal Stomach	stomach
46	chr17:63225000-63225800	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr17:63225000-63225800	Enhancers	HSMMtube	muscle
48	chr17:63225000-63225800	Enhancers	HUVEC	blood vessel
49	chr17:63225000-63226200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr17:63225200-63225400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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