Variant report

Variant	rs74078130
Chromosome Location	chr1:59372804-59372805
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:59242448..59252747-chr1:59356992..59375072,48	K562	blood:
2	chr1:59364854..59367542-chr1:59372083..59374801,2	K562	blood:
3	chr1:59366576..59370002-chr1:59372804..59375528,3	K562	blood:
4	chr1:59242448..59251438-chr1:59358057..59375559,39	K562	blood:
5	chr1:59370025..59373918-chr1:59374367..59377851,5	K562	blood:

Variant related genes	Relation type
ENSG00000177606	Chromatin interaction
ENSG00000234807	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs17118526	1.00[AMR][1000 genomes]
rs4647011	1.00[AMR][1000 genomes]
rs4647013	1.00[AMR][1000 genomes]
rs4647019	1.00[AMR][1000 genomes]
rs57129742	1.00[AMR][1000 genomes]
rs58010530	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59100869	1.00[AMR][1000 genomes]
rs59165416	1.00[AMR][1000 genomes]
rs74078118	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74078124	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74078128	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74078129	0.85[AFR][1000 genomes]
rs74078639	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005354	chr1:59283572-59535812	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv829959	chr1:59340330-59503085	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv546316	chr1:59368947-59457815	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:59369800-59388200	Weak transcription	Gastric	stomach
2	chr1:59370000-59373200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:59370000-59377800	Weak transcription	Aorta	Aorta
4	chr1:59370200-59373200	Weak transcription	Primary B cells from peripheral blood	blood
5	chr1:59370200-59373600	Enhancers	Rectal Mucosa Donor 31	rectum
6	chr1:59370200-59374000	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr1:59370200-59374200	Weak transcription	HSMM	muscle
8	chr1:59370200-59374200	Weak transcription	HSMMtube	muscle
9	chr1:59370200-59374200	Weak transcription	Osteobl	bone
10	chr1:59370200-59374400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr1:59370200-59374400	Weak transcription	Psoas Muscle	Psoas
12	chr1:59370200-59374400	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr1:59370200-59375200	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr1:59370200-59377200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr1:59370200-59377600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr1:59370400-59374400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr1:59370400-59374400	Weak transcription	Adipose Nuclei	Adipose
18	chr1:59370600-59374200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr1:59370600-59374200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr1:59370600-59374200	Weak transcription	HMEC	breast
21	chr1:59370600-59374200	Weak transcription	NH-A	brain
22	chr1:59370600-59374200	Weak transcription	NHEK	skin
23	chr1:59370600-59375200	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr1:59370600-59375400	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr1:59370600-59375400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr1:59370600-59377400	Weak transcription	Fetal Muscle Leg	muscle
27	chr1:59370600-59377400	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr1:59370800-59373400	Weak transcription	Hela-S3	cervix
29	chr1:59370800-59374200	Weak transcription	NHLF	lung
30	chr1:59371000-59373200	Weak transcription	Lung	lung
31	chr1:59371000-59374200	Weak transcription	Fetal Intestine Large	intestine
32	chr1:59371000-59374200	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr1:59371000-59374400	Weak transcription	Small Intestine	intestine
34	chr1:59371200-59374200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr1:59371400-59373000	Enhancers	Placenta Amnion	Placenta Amnion
36	chr1:59371400-59373200	Weak transcription	HUVEC	blood vessel
37	chr1:59371400-59374800	Weak transcription	Stomach Mucosa	stomach
38	chr1:59371600-59374200	Weak transcription	NHDF-Ad	bronchial
39	chr1:59371600-59374400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr1:59371800-59373200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr1:59372000-59373200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr1:59372000-59375400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr1:59372200-59377400	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr1:59372400-59373200	Weak transcription	HepG2	liver
45	chr1:59372400-59374400	Weak transcription	Fetal Intestine Small	intestine
46	chr1:59372400-59374400	Weak transcription	A549	lung
47	chr1:59372600-59373200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr1:59372600-59373400	Enhancers	Duodenum Mucosa	Duodenum
49	chr1:59372800-59373400	Enhancers	K562	blood

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