Variant report

Variant	rs62482210
Chromosome Location	chr7:100035123-100035124
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	E2F6	chr7:100034960-100035151	K562	blood:	n/a	n/a
2	POLR2A	chr7:100034683-100035559	K562	blood:	n/a	n/a
3	WRNIP1	chr7:100035066-100035167	GM12878	blood:	n/a	n/a
4	POLR2A	chr7:100035085-100035179	HUVEC	blood vessel:	n/a	n/a
5	POLR2A	chr7:100034643-100035523	GM12878	blood:	n/a	n/a
6	POLR2A	chr7:100034978-100035312	ECC-1	luminal epithelium:	n/a	n/a
7	POLR2A	chr7:100025626-100035518	HepG2	liver:	n/a	n/a
8	POLR2A	chr7:100035051-100035302	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr7:100034086..100036624-chr7:100146945..100148605,2	K562	blood:
2	chr7:100033372..100035718-chr7:100301969..100303920,2	MCF-7	breast:
3	chr7:99723524..99726119-chr7:100033732..100035408,2	K562	blood:
4	chr7:100033802..100035674-chr7:100086776..100088609,2	MCF-7	breast:
5	chr7:100033593..100036077-chr7:100064067..100067059,3	K562	blood:
6	chr7:100025583..100035841-chr7:100071553..100080023,19	MCF-7	breast:
7	chr7:100034415..100037250-chr7:100289483..100291820,2	MCF-7	breast:
8	chr7:100033419..100035678-chr7:100463885..100466048,2	MCF-7	breast:
9	chr7:99715913..99718707-chr7:100032846..100035303,2	MCF-7	breast:

No data

Variant related genes	Relation type
PPP1R35	TF binding region
ENSG00000106290	Chromatin interaction
ENSG00000087077	Chromatin interaction
ENSG00000214309	Chromatin interaction
ENSG00000242798	Chromatin interaction
ENSG00000172336	Chromatin interaction
ENSG00000166997	Chromatin interaction
ENSG00000166924	Chromatin interaction
ENSG00000166925	Chromatin interaction
ENSG00000106351	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs2286265	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28714213	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3350965	chr7:99747460-100146105	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	304 gene(s)	inside rSNPs	diseases
2	esv1829095	chr7:99814675-100494084	Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	393 gene(s)	inside rSNPs	diseases
3	nsv831071	chr7:99918025-100113413	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	287 gene(s)	inside rSNPs	diseases
4	nsv527107	chr7:100014711-100064719	Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	269 gene(s)	inside rSNPs	diseases
5	nsv888776	chr7:100014711-100198386	Flanking Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	297 gene(s)	inside rSNPs	diseases
6	nsv888777	chr7:100014711-100221867	Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	304 gene(s)	inside rSNPs	diseases
7	nsv888778	chr7:100014711-100236593	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	310 gene(s)	inside rSNPs	diseases
8	nsv888779	chr7:100014711-100313420	Genic enhancers Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	321 gene(s)	inside rSNPs	diseases
9	nsv888780	chr7:100032665-100198386	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
10	nsv984550	chr7:100034415-100080060	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100034200-100035200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr7:100034200-100037600	Weak transcription	Spleen	Spleen
3	chr7:100034200-100039600	Weak transcription	Lung	lung
4	chr7:100034200-100042000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr7:100034400-100037400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr7:100034600-100035200	Enhancers	Thymus	Thymus
7	chr7:100034600-100035400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr7:100034600-100035600	Enhancers	Fetal Muscle Trunk	muscle
9	chr7:100034600-100036600	Weak transcription	NHLF	lung
10	chr7:100034600-100036800	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr7:100034600-100037200	Enhancers	K562	blood
12	chr7:100034600-100037200	Weak transcription	NH-A	brain
13	chr7:100034600-100038200	Enhancers	HUVEC	blood vessel
14	chr7:100034600-100039200	Weak transcription	Fetal Stomach	stomach
15	chr7:100034600-100039400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr7:100034600-100039400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr7:100034600-100039800	Weak transcription	Right Ventricle	heart
18	chr7:100034600-100041600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr7:100034600-100042000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr7:100034600-100042000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr7:100034600-100042000	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr7:100034600-100042000	Weak transcription	Right Atrium	heart
23	chr7:100034600-100042000	Weak transcription	HSMM	muscle
24	chr7:100034600-100043800	Weak transcription	NHEK	skin
25	chr7:100034600-100047800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr7:100034600-100047800	Weak transcription	Brain Angular Gyrus	brain
27	chr7:100034600-100047800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr7:100034600-100047800	Weak transcription	Esophagus	oesophagus
29	chr7:100034600-100047800	Weak transcription	Fetal Brain Female	brain
30	chr7:100034600-100047800	Weak transcription	Rectal Smooth Muscle	rectum
31	chr7:100034800-100036800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr7:100034800-100036800	Weak transcription	Osteobl	bone
33	chr7:100034800-100037000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr7:100034800-100039400	Weak transcription	Gastric	stomach
35	chr7:100034800-100040400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr7:100034800-100040800	Weak transcription	Fetal Intestine Small	intestine
37	chr7:100035000-100035200	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr7:100035000-100035400	Enhancers	GM12878-XiMat	blood
39	chr7:100035000-100035600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr7:100035000-100036000	Weak transcription	Adipose Nuclei	Adipose
41	chr7:100035000-100036600	Weak transcription	Placenta	Placenta
42	chr7:100035000-100036800	Weak transcription	Hela-S3	cervix
43	chr7:100035000-100036800	Weak transcription	HepG2	liver
44	chr7:100035000-100037400	Weak transcription	A549	lung
45	chr7:100035000-100041000	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr7:100035000-100041400	Weak transcription	Fetal Muscle Leg	muscle
47	chr7:100035000-100042000	Weak transcription	Fetal Thymus	thymus
48	chr7:100035000-100042000	Weak transcription	Pancreas	Pancrea
49	chr7:100035000-100042000	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr7:100035000-100042200	Weak transcription	Primary T cells from cord blood	blood

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