Variant report

Variant	rs62490397
Chromosome Location	chr7:140080789-140080790
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:140080071..140081628-chr7:140085201..140088129,2	K562	blood:

Variant related genes	Relation type
ENSG00000202472	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10235190	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11763598	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12667471	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12669654	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12703793	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12703794	0.88[EUR][1000 genomes]
rs12703796	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12703799	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4341086	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4368896	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4448174	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4587251	0.86[AMR][1000 genomes]
rs62490398	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6464710	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6464713	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6953541	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6970664	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6976805	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7786963	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7796411	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7803606	0.90[AMR][1000 genomes];0.91[EUR][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	nsv1022919	chr7:140043299-140120546	Active TSS Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	esv2762706	chr7:140054170-140119629	Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv522190	chr7:140066411-140130663	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:140033600-140096000	Weak transcription	Stomach Mucosa	stomach
2	chr7:140034800-140085600	Weak transcription	Psoas Muscle	Psoas
3	chr7:140042000-140084800	Weak transcription	Hela-S3	cervix
4	chr7:140047600-140084200	Weak transcription	Fetal Brain Male	brain
5	chr7:140049200-140090200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr7:140052000-140097400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr7:140058600-140096000	Weak transcription	Small Intestine	intestine
8	chr7:140058800-140081400	Weak transcription	A549	lung
9	chr7:140058800-140084400	Weak transcription	Gastric	stomach
10	chr7:140058800-140097200	Weak transcription	Brain Anterior Caudate	brain
11	chr7:140059400-140091400	Weak transcription	Fetal Heart	heart
12	chr7:140063400-140082600	Strong transcription	Primary neutrophils fromperipheralblood	blood
13	chr7:140068000-140089000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr7:140069200-140082000	Weak transcription	Colon Smooth Muscle	Colon
15	chr7:140069600-140091800	Weak transcription	Esophagus	oesophagus
16	chr7:140072000-140082400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr7:140074000-140082200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr7:140074000-140082200	Strong transcription	Fetal Stomach	stomach
19	chr7:140074200-140082400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr7:140074800-140082400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr7:140075400-140082200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr7:140075400-140082400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
23	chr7:140075400-140082400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
24	chr7:140075400-140082400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr7:140075400-140082400	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr7:140075600-140081800	Strong transcription	Fetal Intestine Small	intestine
27	chr7:140075600-140082400	Strong transcription	HUES6 Cell Line	embryonic stem cell
28	chr7:140075600-140082400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr7:140075600-140082400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr7:140075600-140082400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr7:140075600-140082400	Strong transcription	Adipose Nuclei	Adipose
32	chr7:140075600-140082400	Strong transcription	Liver	Liver
33	chr7:140075600-140082400	Strong transcription	Duodenum Mucosa	Duodenum
34	chr7:140075600-140082400	Strong transcription	Fetal Intestine Large	intestine
35	chr7:140075600-140082400	Strong transcription	Fetal Muscle Trunk	muscle
36	chr7:140075600-140082600	Strong transcription	HUES48 Cell Line	embryonic stem cell
37	chr7:140075600-140082600	Strong transcription	HUES64 Cell Line	embryonic stem cell
38	chr7:140076200-140082400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr7:140076400-140082400	Strong transcription	Rectal Mucosa Donor 29	rectum
40	chr7:140076400-140088800	Weak transcription	GM12878-XiMat	blood
41	chr7:140076600-140082200	Strong transcription	Fetal Brain Female	brain
42	chr7:140076600-140084800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
43	chr7:140076600-140090000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr7:140076600-140090200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr7:140076800-140082000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr7:140076800-140082400	Strong transcription	H1 Cell Line	embryonic stem cell
47	chr7:140076800-140082400	Strong transcription	Fetal Thymus	thymus
48	chr7:140076800-140084400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr7:140076800-140089600	Weak transcription	Primary hematopoietic stem cells	blood
50	chr7:140076800-140089600	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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