Variant report

Variant	rs563215
Chromosome Location	chr1:185527961-185527962
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:185284911..185288305-chr1:185527011..185530807,5	MCF-7	breast:
2	chr1:185284990..185287378-chr1:185527957..185530692,5	MCF-7	breast:
3	chr1:185518755..185520867-chr1:185527549..185529971,2	K562	blood:

Variant related genes	Relation type
ENSG00000273004	Chromatin interaction
ENSG00000116679	Chromatin interaction

Extended variants
information (count: 77 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs11605	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs170788	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1743273	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2208600	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2756197	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2756199	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2756200	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2756201	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2756203	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2756204	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2756205	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2756206	0.88[EUR][1000 genomes]
rs2756207	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2821434	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2821435	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2821437	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2821438	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2842580	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2842582	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs333701	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs333702	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs333703	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs333715	0.85[EUR][1000 genomes]
rs333716	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs333717	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs333719	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs333720	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs333721	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs333722	0.88[EUR][1000 genomes]
rs333725	0.88[EUR][1000 genomes]
rs333727	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34809184	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs472975	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs479511	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs479559	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs480406	0.88[EUR][1000 genomes]
rs488350	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs489418	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs490389	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs491134	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs495791	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs496413	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs498961	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs500228	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs503650	0.88[EUR][1000 genomes]
rs504627	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs506478	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs509096	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs522048	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs528985	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs529183	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs529275	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs529282	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs530157	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs533136	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs534762	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs534920	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs550874	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs551806	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs552584	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs553280	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs553530	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs554388	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs554711	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs556035	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs558723	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs564161	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs564265	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs569496	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs570476	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs571325	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs572252	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs574940	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs579458	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs693523	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs737490	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv548398	chr1:185136458-186003094	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:185520800-185528800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:185521000-185533800	Weak transcription	Placenta	Placenta
3	chr1:185524800-185529000	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr1:185525000-185528600	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr1:185525400-185536000	Weak transcription	Stomach Mucosa	stomach
6	chr1:185526000-185528600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr1:185526400-185533800	Weak transcription	Osteobl	bone
8	chr1:185526600-185528800	Weak transcription	Fetal Intestine Small	intestine
9	chr1:185526600-185530600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr1:185527000-185528000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr1:185527400-185528000	Enhancers	Fetal Kidney	kidney
12	chr1:185527600-185530400	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr1:185527800-185528800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr1:185527800-185528800	Weak transcription	Pancreas	Pancrea
15	chr1:185527800-185529400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr1:185527800-185530000	Weak transcription	Left Ventricle	heart
17	chr1:185527800-185532400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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