Variant report

Variant	rs4650283
Chromosome Location	chr1:75186056-75186057
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:75184341..75186211-chr1:75195843..75198815,2	K562	blood:
2	chr1:75184634..75186342-chr1:75186359..75187995,2	K562	blood:
3	chr1:75185247..75187667-chr1:75196459..75199563,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000116791	Chromatin interaction
ENSG00000162623	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11163178	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12073318	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs16910	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28801184	0.82[AFR][1000 genomes]
rs41289224	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59091667	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60212353	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61524157	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011745	chr1:74730942-75477618	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv535003	chr1:74730942-75477618	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv830259	chr1:75089177-75241062	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv871152	chr1:75152186-75197533	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a
5	esv1851105	chr1:75152186-75302921	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:75159400-75187400	Weak transcription	NHEK	skin
2	chr1:75166400-75191400	Weak transcription	Placenta	Placenta
3	chr1:75166600-75194800	Weak transcription	Esophagus	oesophagus
4	chr1:75166800-75189200	Weak transcription	Spleen	Spleen
5	chr1:75167000-75197200	Weak transcription	Right Ventricle	heart
6	chr1:75167600-75190600	Strong transcription	Liver	Liver
7	chr1:75167600-75190800	Strong transcription	Primary T helper cells fromperipheralblood	blood
8	chr1:75167800-75190000	Strong transcription	Adipose Nuclei	Adipose
9	chr1:75168600-75187000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr1:75168800-75186400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr1:75169000-75189600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr1:75169400-75190600	Strong transcription	Primary B cells from cord blood	blood
13	chr1:75169400-75191600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr1:75169800-75191800	Weak transcription	Colonic Mucosa	Colon
15	chr1:75170400-75189600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
16	chr1:75170600-75187000	Weak transcription	Stomach Mucosa	stomach
17	chr1:75170600-75187200	Weak transcription	Small Intestine	intestine
18	chr1:75170800-75187200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr1:75171000-75197200	Weak transcription	Brain Angular Gyrus	brain
20	chr1:75171800-75189800	Strong transcription	HepG2	liver
21	chr1:75172000-75189400	Strong transcription	Fetal Muscle Leg	muscle
22	chr1:75173400-75189200	Strong transcription	Ovary	ovary
23	chr1:75173400-75189600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr1:75173600-75189600	Strong transcription	Duodenum Mucosa	Duodenum
25	chr1:75174600-75189600	Strong transcription	Primary T cells fromperipheralblood	blood
26	chr1:75174800-75198000	Weak transcription	Thymus	Thymus
27	chr1:75175400-75187600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr1:75175400-75196000	Weak transcription	HSMMtube	muscle
29	chr1:75176400-75189400	Strong transcription	Primary T cells from cord blood	blood
30	chr1:75176600-75189600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr1:75176800-75191600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr1:75177400-75188800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr1:75177400-75191600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr1:75177400-75191600	Weak transcription	Gastric	stomach
35	chr1:75177400-75191800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr1:75177800-75186600	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr1:75178000-75191800	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr1:75178800-75189400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr1:75179000-75189600	Strong transcription	Skeletal Muscle Female	skeletal muscle
40	chr1:75179000-75189800	Strong transcription	Primary B cells from peripheral blood	blood
41	chr1:75179200-75189600	Strong transcription	Primary T helper cells PMA-I stimulated	--
42	chr1:75179400-75191200	Strong transcription	Cortex derived primary cultured neurospheres	brain
43	chr1:75179600-75189800	Strong transcription	Rectal Mucosa Donor 29	rectum
44	chr1:75179600-75191200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr1:75179800-75186600	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr1:75179800-75186800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr1:75179800-75189400	Strong transcription	Left Ventricle	heart
48	chr1:75179800-75191600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr1:75179800-75191600	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr1:75180000-75191000	Weak transcription	ES-I3 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links