Variant report

Variant	rs62490454
Chromosome Location	chr7:140184676-140184677
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:140182169..140184861-chr7:140185042..140187424,2	K562	blood:
2	chr7:139875628..139877580-chr7:140184540..140187021,2	K562	blood:
3	chr7:140175927..140181758-chr7:140182392..140187030,7	K562	blood:
4	chr7:140177800..140180943-chr7:140182386..140186052,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000006459	Chromatin interaction
ENSG00000260231	Chromatin interaction
ENSG00000133606	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs4726830	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59738001	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62490453	0.84[ASN][1000 genomes]
rs62490456	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62490457	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62490458	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62490459	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62492360	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62492361	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62492362	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62492363	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62492364	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73480302	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv464734	chr7:140108096-140217670	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv608500	chr7:140108096-140217670	Genic enhancers Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	esv1803443	chr7:140146694-140263109	Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases
4	esv3377641	chr7:140181549-140190537	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	esv3492577	chr7:140181601-140190476	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	esv3492578	chr7:140181601-140190476	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv437576	chr7:140182985-140217670	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:140179800-140184800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr7:140179800-140185200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr7:140179800-140187800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr7:140179800-140198000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr7:140180000-140184800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr7:140180000-140184800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr7:140180000-140184800	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr7:140180000-140185200	Weak transcription	NHEK	skin
9	chr7:140180000-140188200	Weak transcription	Stomach Smooth Muscle	stomach
10	chr7:140183000-140185800	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr7:140183200-140185200	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr7:140183200-140185200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
13	chr7:140183400-140185200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr7:140183400-140185800	Enhancers	H9 Cell Line	embryonic stem cell
15	chr7:140184400-140185000	Enhancers	Duodenum Mucosa	Duodenum
16	chr7:140184400-140185200	Enhancers	Hela-S3	cervix
17	chr7:140184400-140185400	Enhancers	Sigmoid Colon	Sigmoid Colon
18	chr7:140184400-140185600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr7:140184400-140185600	Enhancers	Fetal Intestine Large	intestine
20	chr7:140184400-140185800	Enhancers	H1 Cell Line	embryonic stem cell
21	chr7:140184400-140185800	Enhancers	Fetal Intestine Small	intestine
22	chr7:140184400-140186200	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr7:140184400-140186600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr7:140184400-140188000	Enhancers	K562	blood
25	chr7:140184600-140184800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
26	chr7:140184600-140185000	Enhancers	Monocytes-CD14+_RO01746	blood
27	chr7:140184600-140185200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr7:140184600-140185200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
29	chr7:140184600-140185200	Bivalent Enhancer	HUVEC	blood vessel
30	chr7:140184600-140185400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr7:140184600-140185600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr7:140184600-140185600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
33	chr7:140184600-140185600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
34	chr7:140184600-140185600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr7:140184600-140185800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
36	chr7:140184600-140185800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links