Variant report

Variant	rs61834083
Chromosome Location	chr1:213230755-213230756
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:213228815..213232157-chr1:213233808..213236908,3	K562	blood:
2	chr1:213223540..213226354-chr1:213228669..213231499,2	MCF-7	breast:
3	chr1:213230752..213233029-chr1:213239159..213241284,2	K562	blood:
4	chr1:213230166..213232238-chr1:213249044..213250599,2	K562	blood:

Variant related genes	Relation type
ENSG00000136643	Chromatin interaction

Extended variants
information (count: 86 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs11120089	1.00[EUR][1000 genomes]
rs1187788	0.85[EUR][1000 genomes]
rs1187802	0.82[EUR][1000 genomes]
rs1187806	0.85[EUR][1000 genomes]
rs12065249	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12082134	0.89[EUR][1000 genomes]
rs1628854	0.82[EUR][1000 genomes]
rs17742003	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2654910	0.85[EUR][1000 genomes]
rs2817985	0.89[EUR][1000 genomes]
rs2841433	0.89[EUR][1000 genomes]
rs41277160	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs41277162	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs41307658	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs4655415	0.89[EUR][1000 genomes]
rs57140665	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57188196	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57352598	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57376645	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57845296	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58482452	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58865439	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59892045	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60194877	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60727621	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs61832445	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61832446	1.00[AFR][1000 genomes]
rs61832447	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61832460	1.00[AFR][1000 genomes]
rs61832461	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs61832463	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs61832465	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs61832467	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs61832468	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs61832470	1.00[AFR][1000 genomes]
rs61832471	1.00[AFR][1000 genomes]
rs61832474	1.00[AFR][1000 genomes]
rs61832475	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs61832476	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs61832498	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs61832499	0.89[EUR][1000 genomes]
rs61832501	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs61832502	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs61832503	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs61832508	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs61832509	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs61832510	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs61834072	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61834076	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61834077	1.00[AFR][1000 genomes]
rs61834080	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61834082	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61834084	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61834086	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61834087	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61834088	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61834089	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61834091	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61834092	1.00[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs61834093	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61834094	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61834096	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61834099	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61834102	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61834103	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61834104	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61834105	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61834109	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61834110	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61834111	1.00[AFR][1000 genomes]
rs61834116	1.00[EUR][1000 genomes]
rs61834117	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61834118	1.00[EUR][1000 genomes]
rs61834119	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61834123	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs61834126	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs61834135	1.00[AFR][1000 genomes]
rs61834136	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs61834137	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs61834138	0.89[EUR][1000 genomes]
rs61834139	1.00[AFR][1000 genomes]
rs61834140	1.00[AFR][1000 genomes]
rs61834141	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs61834142	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs9429904	0.89[EUR][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	nsv1008594	chr1:213110654-213236750	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:213225200-213253400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr1:213225200-213254400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:213225400-213254000	Weak transcription	Aorta	Aorta
4	chr1:213225400-213254000	Weak transcription	Left Ventricle	heart
5	chr1:213225400-213256600	Weak transcription	Ovary	ovary
6	chr1:213225600-213234000	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr1:213225600-213236000	Weak transcription	Right Atrium	heart
8	chr1:213225600-213243600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr1:213225600-213244000	Weak transcription	HSMM	muscle
10	chr1:213225800-213234200	Weak transcription	Primary B cells from cord blood	blood
11	chr1:213225800-213252800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr1:213225800-213254000	Weak transcription	Primary T cells from cord blood	blood
13	chr1:213226000-213233200	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr1:213226000-213254000	Weak transcription	Fetal Muscle Leg	muscle
15	chr1:213226200-213243800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr1:213226200-213252800	Weak transcription	Fetal Stomach	stomach
17	chr1:213226600-213231400	Weak transcription	Duodenum Mucosa	Duodenum
18	chr1:213226600-213232000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr1:213226800-213237400	Weak transcription	Colon Smooth Muscle	Colon
20	chr1:213227000-213230800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr1:213227000-213232000	Weak transcription	GM12878-XiMat	blood
22	chr1:213227000-213254000	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr1:213227200-213243000	Weak transcription	Primary hematopoietic stem cells	blood
24	chr1:213227800-213231800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr1:213228000-213254200	Weak transcription	Brain Hippocampus Middle	brain
26	chr1:213228600-213232000	Enhancers	HepG2	liver
27	chr1:213228600-213244000	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr1:213228800-213238800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr1:213228800-213239000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr1:213228800-213263200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr1:213229400-213239000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr1:213229400-213254200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr1:213229400-213283400	Weak transcription	Hela-S3	cervix
34	chr1:213229800-213239200	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chr1:213230000-213231000	Flanking Active TSS	K562	blood
36	chr1:213230000-213236200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr1:213230200-213231400	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr1:213230200-213238800	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr1:213230200-213239200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr1:213230400-213239000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr1:213230600-213232000	Weak transcription	Psoas Muscle	Psoas

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