Variant report

Variant	rs74130930
Chromosome Location	chr1:193148322-193148323
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:193146146..193149331-chr1:193151416..193154903,3	MCF-7	breast:
2	chr1:193027186..193030621-chr1:193147292..193150142,3	K562	blood:
3	chr1:193147624..193150374-chr1:193271441..193274331,2	K562	blood:
4	chr1:193144913..193148643-chr1:193149286..193152913,4	K562	blood:

Variant related genes	Relation type
ENSG00000232077	Chromatin interaction
ENSG00000116747	Chromatin interaction
ENSG00000116750	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs16835169	1.00[AMR][1000 genomes]
rs56067713	0.83[AMR][1000 genomes]
rs58056953	0.83[AMR][1000 genomes]
rs60186515	0.96[AFR][1000 genomes]
rs6665739	1.00[AMR][1000 genomes]
rs6665751	1.00[AMR][1000 genomes]
rs6682435	0.83[AMR][1000 genomes]
rs6683844	0.83[AMR][1000 genomes]
rs74130919	0.85[AMR][1000 genomes]
rs74130920	0.83[AMR][1000 genomes]
rs74130921	0.83[AMR][1000 genomes]
rs74130922	0.83[AMR][1000 genomes]
rs74130925	1.00[AMR][1000 genomes]
rs74130927	0.83[AMR][1000 genomes]
rs74130929	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74130932	0.83[AFR][1000 genomes]
rs7551600	0.83[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	nsv532618	chr1:192537006-193149179	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv832148	chr1:193143945-193292897	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:193094800-193155000	Weak transcription	Aorta	Aorta
2	chr1:193110000-193149400	Weak transcription	Right Ventricle	heart
3	chr1:193110000-193155200	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr1:193116600-193149400	Weak transcription	Brain Germinal Matrix	brain
5	chr1:193120400-193150400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr1:193121000-193155200	Weak transcription	Pancreas	Pancrea
7	chr1:193123200-193151600	Weak transcription	Fetal Kidney	kidney
8	chr1:193123200-193153600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr1:193123400-193155200	Weak transcription	Thymus	Thymus
10	chr1:193123600-193149600	Weak transcription	Brain Hippocampus Middle	brain
11	chr1:193123800-193150400	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr1:193123800-193153200	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr1:193124000-193152000	Weak transcription	Liver	Liver
14	chr1:193124000-193153600	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr1:193124000-193154200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr1:193124200-193150400	Weak transcription	NHDF-Ad	bronchial
17	chr1:193125200-193152200	Weak transcription	A549	lung
18	chr1:193126200-193152600	Weak transcription	HepG2	liver
19	chr1:193126200-193154400	Weak transcription	NHEK	skin
20	chr1:193126200-193155200	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr1:193126200-193155200	Weak transcription	Gastric	stomach
22	chr1:193126800-193155000	Weak transcription	Fetal Thymus	thymus
23	chr1:193127600-193154400	Weak transcription	Hela-S3	cervix
24	chr1:193128600-193154800	Weak transcription	NH-A	brain
25	chr1:193128800-193150200	Weak transcription	Osteobl	bone
26	chr1:193129400-193153600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr1:193130400-193154800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr1:193131800-193158600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr1:193133200-193153600	Weak transcription	Fetal Intestine Small	intestine
30	chr1:193133200-193154800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr1:193133200-193154800	Weak transcription	Fetal Muscle Trunk	muscle
32	chr1:193134000-193154400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr1:193135600-193155000	Weak transcription	Small Intestine	intestine
34	chr1:193135600-193155200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr1:193136000-193149400	Weak transcription	Left Ventricle	heart
36	chr1:193136000-193152600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr1:193136000-193152600	Weak transcription	Fetal Stomach	stomach
38	chr1:193137600-193150400	Weak transcription	Stomach Smooth Muscle	stomach
39	chr1:193137600-193154400	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr1:193137600-193154800	Weak transcription	HMEC	breast
41	chr1:193137800-193150400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr1:193138200-193149400	Weak transcription	Primary T helper cells fromperipheralblood	blood
43	chr1:193139200-193151600	Weak transcription	Fetal Heart	heart
44	chr1:193140200-193154800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr1:193140400-193152600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr1:193140400-193155200	Weak transcription	Adipose Nuclei	Adipose
47	chr1:193140400-193159800	Weak transcription	Dnd41	blood
48	chr1:193140600-193149400	Weak transcription	HSMMtube	muscle
49	chr1:193140600-193154800	Weak transcription	HUVEC	blood vessel
50	chr1:193140600-193155200	Weak transcription	Primary hematopoietic stem cells short term culture	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links