Variant report

Variant	rs62624965
Chromosome Location	chr1:197070816-197070817
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:197068919..197071341-chr1:197120763..197122532,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs17514507	1.00[AMR][1000 genomes]
rs17514528	1.00[AMR][1000 genomes]
rs17514535	1.00[AMR][1000 genomes]
rs17514669	1.00[AMR][1000 genomes]
rs17514676	1.00[AMR][1000 genomes]
rs17514760	1.00[AMR][1000 genomes]
rs17514851	1.00[AMR][1000 genomes]
rs17549561	1.00[AMR][1000 genomes]
rs17549589	1.00[AMR][1000 genomes]
rs17549664	1.00[AMR][1000 genomes]
rs17549866	1.00[AMR][1000 genomes]
rs35203521	1.00[AMR][1000 genomes]
rs56859250	1.00[AMR][1000 genomes]
rs62623455	1.00[AMR][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	nsv528460	chr1:196542567-197446702	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	esv2758990	chr1:196590837-197169772	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv427897	chr1:196590837-197169772	Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	esv2757767	chr1:196977799-197169772	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv873065	chr1:197027749-197076194	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv873068	chr1:197046782-197076194	Strong transcription ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
7	nsv873069	chr1:197055925-197109042	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:197052200-197074400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr1:197052200-197076200	Weak transcription	NHLF	lung
3	chr1:197052200-197083600	Weak transcription	Fetal Stomach	stomach
4	chr1:197052200-197106600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:197052200-197114200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr1:197054000-197071200	Weak transcription	Brain Germinal Matrix	brain
7	chr1:197054200-197071200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:197054200-197113600	Weak transcription	Fetal Kidney	kidney
9	chr1:197054600-197072400	Weak transcription	Thymus	Thymus
10	chr1:197055000-197114200	Weak transcription	Primary B cells from cord blood	blood
11	chr1:197055600-197074000	Weak transcription	Placenta	Placenta
12	chr1:197057200-197071800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr1:197057200-197073200	Weak transcription	NHEK	skin
14	chr1:197060000-197073800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr1:197060400-197071200	Weak transcription	Fetal Lung	lung
16	chr1:197060400-197072400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr1:197061200-197073200	Weak transcription	HepG2	liver
18	chr1:197061800-197072000	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr1:197063000-197071600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr1:197063000-197071600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr1:197063000-197072400	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr1:197063000-197072400	Weak transcription	Fetal Muscle Trunk	muscle
23	chr1:197063000-197072400	Weak transcription	GM12878-XiMat	blood
24	chr1:197063000-197072600	Weak transcription	A549	lung
25	chr1:197063000-197072600	Weak transcription	HUVEC	blood vessel
26	chr1:197063000-197072800	Weak transcription	NH-A	brain
27	chr1:197063000-197073200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr1:197063200-197072400	Weak transcription	Primary hematopoietic stem cells	blood
29	chr1:197063600-197072400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr1:197064000-197073000	Weak transcription	HMEC	breast
31	chr1:197064200-197072800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr1:197064600-197073000	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr1:197064800-197072200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr1:197065400-197071000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr1:197065600-197071800	Weak transcription	Fetal Brain Female	brain
36	chr1:197065600-197072000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr1:197065600-197072000	Weak transcription	NHDF-Ad	bronchial
38	chr1:197065800-197073000	Weak transcription	Primary neutrophils fromperipheralblood	blood
39	chr1:197066600-197072400	Weak transcription	Ovary	ovary
40	chr1:197066600-197083600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr1:197067000-197071800	Weak transcription	Monocytes-CD14+_RO01746	blood
42	chr1:197067000-197092200	Weak transcription	Fetal Intestine Large	intestine
43	chr1:197068200-197071800	Weak transcription	HSMM	muscle
44	chr1:197068200-197072800	Weak transcription	Hela-S3	cervix
45	chr1:197069000-197071200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
46	chr1:197069200-197071400	Enhancers	Primary T helper naive cells from peripheral blood	blood
47	chr1:197069200-197071400	Enhancers	Primary T helper cells PMA-I stimulated	--
48	chr1:197069200-197071400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr1:197069400-197071000	Enhancers	Fetal Heart	heart
50	chr1:197069400-197071000	Weak transcription	Dnd41	blood

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