Variant report

Variant	rs58420974
Chromosome Location	chr2:101179798-101179799
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:101033038..101035627-chr2:101178228..101182939,5	K562	blood:
2	chr2:101177750..101180702-chr2:101616968..101620230,4	MCF-7	breast:
3	chr2:101032545..101035627-chr2:101179557..101182939,4	K562	blood:
4	chr2:101179725..101181553-chr2:101183212..101186603,3	K562	blood:
5	chr11:809151..809926-chr2:101179178..101179904,2	Hela-S3	cervix:
6	chr2:101177993..101180966-chr2:101192692..101194735,2	K562	blood:
7	chr2:101041152..101044058-chr2:101179314..101180934,2	K562	blood:
8	chr2:101177732..101180772-chr2:101616573..101620250,3	K562	blood:
9	chr2:101178645..101181337-chr2:101184679..101187696,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000177600	Chromatin interaction
ENSG00000115539	Chromatin interaction
ENSG00000177595	Chromatin interaction
ENSG00000071082	Chromatin interaction
ENSG00000238029	Chromatin interaction
ENSG00000223947	Chromatin interaction
ENSG00000238328	Chromatin interaction
ENSG00000115526	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10178491	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10190324	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10200086	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1052117	1.00[ASN][1000 genomes]
rs1114285	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11681805	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11691661	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12469332	0.82[ASN][1000 genomes]
rs13393125	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1401753	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1533655	0.82[ASN][1000 genomes]
rs2971007	1.00[ASN][1000 genomes]
rs4850940	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4851334	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4851335	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4851337	1.00[ASN][1000 genomes]
rs4851338	1.00[ASN][1000 genomes]
rs61370232	1.00[ASN][1000 genomes]
rs62155213	1.00[ASN][1000 genomes]
rs66689046	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs67061569	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6739992	1.00[ASN][1000 genomes]
rs6747613	1.00[ASN][1000 genomes]
rs6748900	1.00[ASN][1000 genomes]
rs6753993	1.00[ASN][1000 genomes]
rs7557603	1.00[ASN][1000 genomes]
rs7560366	1.00[ASN][1000 genomes]
rs7594904	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007777	chr2:100816913-101308914	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv535844	chr2:100816913-101308914	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv582531	chr2:100908508-101207639	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv916792	chr2:101021066-101525200	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv582532	chr2:101029002-101531943	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	nsv834312	chr2:101044438-101238166	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:101178200-101179800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr2:101178400-101180200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr2:101178400-101180200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
4	chr2:101178400-101180200	Active TSS	Duodenum Smooth Muscle	Duodenum
5	chr2:101178400-101180200	Active TSS	Fetal Brain Male	brain
6	chr2:101178400-101180200	Active TSS	Fetal Intestine Large	intestine
7	chr2:101178400-101180200	Active TSS	Fetal Stomach	stomach
8	chr2:101178400-101180400	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr2:101178400-101180400	Active TSS	Rectal Smooth Muscle	rectum
10	chr2:101178400-101180600	Active TSS	Fetal Brain Female	brain
11	chr2:101178400-101180600	Active TSS	Osteobl	bone
12	chr2:101178400-101180800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr2:101178400-101180800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr2:101178600-101180000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr2:101178600-101180200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
16	chr2:101178600-101180200	Active TSS	H1 Cell Line	embryonic stem cell
17	chr2:101178600-101180200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr2:101178600-101180200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr2:101178600-101180200	Active TSS	Colonic Mucosa	Colon
20	chr2:101178600-101180200	Active TSS	Fetal Intestine Small	intestine
21	chr2:101178600-101180200	Active TSS	Fetal Lung	lung
22	chr2:101178600-101180200	Active TSS	HMEC	breast
23	chr2:101178600-101180400	Active TSS	ES-I3 Cell Line	embryonic stem cell
24	chr2:101178600-101180400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr2:101178600-101180400	Active TSS	Fetal Kidney	kidney
26	chr2:101178600-101180400	Active TSS	Left Ventricle	heart
27	chr2:101178600-101180400	Active TSS	Right Atrium	heart
28	chr2:101178600-101180400	Active TSS	HSMMtube	muscle
29	chr2:101178600-101180400	Active TSS	NHEK	skin
30	chr2:101178600-101180600	Active TSS	H9 Cell Line	embryonic stem cell
31	chr2:101178600-101180600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr2:101178600-101180600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr2:101178600-101180600	Active TSS	HSMM	muscle
34	chr2:101178600-101180600	Active TSS	NHLF	lung
35	chr2:101178800-101179800	Active TSS	Primary monocytes fromperipheralblood	blood
36	chr2:101178800-101179800	Active TSS	Primary T cells fromperipheralblood	blood
37	chr2:101178800-101179800	Active TSS	Primary hematopoietic stem cells	blood
38	chr2:101178800-101179800	Active TSS	Primary T helper cells fromperipheralblood	blood
39	chr2:101178800-101179800	Active TSS	Adipose Nuclei	Adipose
40	chr2:101178800-101179800	Active TSS	Liver	Liver
41	chr2:101178800-101179800	Active TSS	Skeletal Muscle Male	skeletal muscle
42	chr2:101178800-101179800	Active TSS	Skeletal Muscle Female	skeletal muscle
43	chr2:101178800-101179800	Active TSS	Monocytes-CD14+_RO01746	blood
44	chr2:101178800-101180000	Active TSS	Primary T cells from cord blood	blood
45	chr2:101178800-101180000	Active TSS	Cortex derived primary cultured neurospheres	brain
46	chr2:101178800-101180000	Active TSS	Fetal Muscle Trunk	muscle
47	chr2:101178800-101180000	Active TSS	Fetal Thymus	thymus
48	chr2:101178800-101180000	Active TSS	Rectal Mucosa Donor 29	rectum
49	chr2:101178800-101180200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr2:101178800-101180200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links