Variant report

Variant	rs59232020
Chromosome Location	chr1:94091265-94091266
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:94090065..94091914-chr1:94120278..94122709,2	K562	blood:
2	chr1:94088580..94091392-chr1:94145973..94148606,2	MCF-7	breast:
3	chr1:94089082..94091665-chr1:94278876..94280669,2	MCF-7	breast:
4	chr1:94080816..94083593-chr1:94090826..94092537,2	K562	blood:

Variant related genes	Relation type
ENSG00000137936	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs17110195	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17110198	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17110248	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17110252	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17110298	1.00[ASN][1000 genomes]
rs236268	0.85[EUR][1000 genomes]
rs41292657	1.00[ASN][1000 genomes]
rs56072327	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56369705	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57866435	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6541385	0.81[EUR][1000 genomes]
rs74101645	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74101646	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74101653	0.89[EUR][1000 genomes]
rs74101655	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74101658	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74101664	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74101673	1.00[ASN][1000 genomes]
rs74101674	1.00[ASN][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	nsv482370	chr1:94000799-94183692	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	esv2755338	chr1:94059579-94176079	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94057600-94106400	Weak transcription	Primary B cells from cord blood	blood
2	chr1:94077200-94099000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr1:94081200-94095000	Genic enhancers	HSMM	muscle
4	chr1:94083400-94093800	Weak transcription	Psoas Muscle	Psoas
5	chr1:94083400-94108200	Weak transcription	Esophagus	oesophagus
6	chr1:94083600-94101600	Weak transcription	Stomach Smooth Muscle	stomach
7	chr1:94083800-94091400	Weak transcription	Fetal Stomach	stomach
8	chr1:94083800-94095000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr1:94084000-94091400	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr1:94084200-94091400	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr1:94084200-94101000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr1:94084400-94091400	Enhancers	HepG2	liver
13	chr1:94085200-94091400	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr1:94085200-94092200	Enhancers	Placenta	Placenta
15	chr1:94085400-94093600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr1:94085400-94107600	Weak transcription	Primary B cells from peripheral blood	blood
17	chr1:94085800-94091800	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr1:94086200-94091600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr1:94086200-94092600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr1:94086800-94098000	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr1:94086800-94101200	Weak transcription	Fetal Muscle Trunk	muscle
22	chr1:94087400-94092600	Genic enhancers	Hela-S3	cervix
23	chr1:94087800-94091600	Enhancers	Brain Germinal Matrix	brain
24	chr1:94087800-94092200	Enhancers	NHLF	lung
25	chr1:94088000-94091400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr1:94088000-94091800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr1:94088000-94092400	Enhancers	NH-A	brain
28	chr1:94088200-94094800	Genic enhancers	A549	lung
29	chr1:94088200-94095600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr1:94088400-94092400	Weak transcription	Fetal Intestine Small	intestine
31	chr1:94088400-94093200	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr1:94088400-94096400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr1:94088400-94100400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr1:94088600-94091800	Weak transcription	Fetal Intestine Large	intestine
35	chr1:94088600-94118800	Weak transcription	Gastric	stomach
36	chr1:94089000-94091600	Enhancers	HSMMtube	muscle
37	chr1:94089000-94092400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr1:94089200-94091600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr1:94089400-94091600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr1:94089400-94092400	Enhancers	NHDF-Ad	bronchial
41	chr1:94089400-94094000	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr1:94089600-94092200	Enhancers	Left Ventricle	heart
43	chr1:94089600-94092200	Enhancers	HMEC	breast
44	chr1:94089600-94093000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr1:94089600-94097400	Genic enhancers	NHEK	skin
46	chr1:94089800-94092200	Enhancers	Right Atrium	heart
47	chr1:94090000-94091400	Weak transcription	Duodenum Mucosa	Duodenum
48	chr1:94090000-94091600	Enhancers	Skeletal Muscle Male	skeletal muscle
49	chr1:94090000-94093000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr1:94090000-94093000	Weak transcription	Rectal Mucosa Donor 31	rectum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links