Variant report

Variant	rs59214288
Chromosome Location	chr1:215778527-215778528
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:215771902..215774762-chr1:215776329..215779964,4	K562	blood:
2	chr1:215773100..215776523-chr1:215778398..215780983,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000136636	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs59654382	1.00[AFR][1000 genomes]
rs60427287	0.86[AFR][1000 genomes]
rs6695032	0.87[AFR][1000 genomes]
rs73083424	1.00[AFR][1000 genomes]
rs73083434	1.00[AFR][1000 genomes]
rs73083440	0.87[AFR][1000 genomes]
rs73083442	0.87[AFR][1000 genomes]
rs73083444	0.87[AFR][1000 genomes]
rs73083463	0.87[AFR][1000 genomes]
rs73083482	0.87[AFR][1000 genomes]
rs73083485	0.87[AFR][1000 genomes]
rs73083488	0.87[AFR][1000 genomes]
rs73085420	1.00[AFR][1000 genomes]
rs73085431	0.86[AFR][1000 genomes]
rs73085432	0.86[AFR][1000 genomes]
rs73085444	1.00[AFR][1000 genomes]
rs73085451	1.00[AFR][1000 genomes]
rs73085460	1.00[AFR][1000 genomes]
rs73085461	0.86[AFR][1000 genomes]
rs73087422	1.00[AFR][1000 genomes]
rs73087434	0.86[AFR][1000 genomes]
rs73087436	0.86[AFR][1000 genomes]
rs73087456	0.86[AFR][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	esv1796390	chr1:215561548-215799074	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv430324	chr1:215649163-216082605	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer 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	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:215741800-215786200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:215741800-215809800	Weak transcription	Colonic Mucosa	Colon
3	chr1:215742000-215786400	Weak transcription	Thymus	Thymus
4	chr1:215742200-215786400	Weak transcription	Primary T cells from cord blood	blood
5	chr1:215743200-215785800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr1:215750000-215778600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr1:215750000-215786200	Weak transcription	Small Intestine	intestine
8	chr1:215750000-215805000	Weak transcription	Lung	lung
9	chr1:215750200-215785800	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr1:215750200-215786200	Weak transcription	Pancreas	Pancrea
11	chr1:215750200-215790400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr1:215750200-215795400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr1:215750200-215796000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr1:215750200-215804400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr1:215750200-215809200	Weak transcription	Gastric	stomach
16	chr1:215752800-215781400	Weak transcription	Hela-S3	cervix
17	chr1:215753200-215792200	Weak transcription	Aorta	Aorta
18	chr1:215753400-215778600	Weak transcription	Fetal Thymus	thymus
19	chr1:215755800-215804800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr1:215757000-215782600	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr1:215758600-215781000	Weak transcription	Dnd41	blood
22	chr1:215760400-215786200	Weak transcription	Stomach Smooth Muscle	stomach
23	chr1:215765200-215790400	Weak transcription	Esophagus	oesophagus
24	chr1:215766400-215786200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr1:215768000-215791800	Weak transcription	Fetal Brain Male	brain
26	chr1:215768400-215781000	Weak transcription	Fetal Kidney	kidney
27	chr1:215768400-215790600	Weak transcription	Right Ventricle	heart
28	chr1:215769000-215781000	Weak transcription	NHEK	skin
29	chr1:215770200-215781400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr1:215770600-215785000	Weak transcription	Fetal Brain Female	brain
31	chr1:215771200-215778600	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr1:215771200-215779000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr1:215771200-215781400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr1:215771200-215782000	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr1:215771200-215786200	Weak transcription	HSMMtube	muscle
36	chr1:215773000-215790400	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr1:215773200-215779800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr1:215773200-215781800	Weak transcription	Brain Germinal Matrix	brain
39	chr1:215773200-215782000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr1:215773200-215782600	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr1:215773200-215785800	Weak transcription	Primary B cells from cord blood	blood
42	chr1:215773400-215778600	Weak transcription	Psoas Muscle	Psoas
43	chr1:215773400-215778600	Weak transcription	NHLF	lung
44	chr1:215773400-215781400	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr1:215773400-215786200	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr1:215773600-215785400	Weak transcription	Brain Anterior Caudate	brain
47	chr1:215773600-215786200	Weak transcription	Fetal Intestine Small	intestine
48	chr1:215773600-215792400	Weak transcription	Brain Angular Gyrus	brain
49	chr1:215773800-215778800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr1:215773800-215778800	Strong transcription	Fetal Lung	lung

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