Variant report

Variant	rs7897448
Chromosome Location	chr10:5075015-5075016
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:5074993-5075043	HCM	heart:	n/a
2	chr10:5074993-5075043	HEEpiC	esophagus:	n/a
3	chr10:5074993-5075043	IMR90	lung:	fetal
4	chr10:5074993-5075043	SK-N-MC	brain:	n/a
5	chr10:5074993-5075043	AG04449	skin:	fetal
6	chr10:5074993-5075043	AG09319	gingival:	n/a
7	chr10:5074993-5075043	AoSMC	blood vessel:	n/a
8	chr10:5074993-5075043	MCF10A-Er-Src	breast:	n/a
9	chr10:5074993-5075043	ECC-1	luminal epithelium:	n/a
10	chr10:5074993-5075043	Hela-S3	cervix:	n/a
11	chr10:5074993-5075043	PrEC	prostate:	n/a
12	chr10:5074993-5075043	GM19239	blood:	n/a
13	chr10:5074993-5075043	HUVEC	blood vessel:	n/a
14	chr10:5074993-5075043	HL-60	blood:	n/a
15	chr10:5074993-5075043	GM12878	blood:	n/a
16	chr10:5074993-5075043	NHBE	bronchial:	n/a
17	chr10:5074993-5075043	GM12891	blood:	n/a
18	chr10:5074993-5075043	AG04450	lung:	fetal
19	chr10:5074993-5075043	A549	lung:	n/a
20	chr10:5074993-5075043	HCT-116	colon:	n/a
21	chr10:5074993-5075043	K562	blood:	n/a
22	chr10:5074993-5075043	ProgFib	skin:	n/a
23	chr10:5074993-5075043	BJ	skin:	n/a
24	chr10:5074993-5075043	Jurkat	blood:	n/a
25	chr10:5074993-5075043	HNPCEpiC	eye:	n/a
26	chr10:5074993-5075043	CMK	blood:	n/a
27	chr10:5074993-5075043	NHDF-neo	bronchial:	n/a
28	chr10:5074993-5075043	PANC-1	pancreas:	n/a
29	chr10:5074993-5075043	U87	brain:	n/a
30	chr10:5074993-5075043	HRE	kidney:	n/a
31	chr10:5074993-5075043	GM12892	blood:	n/a
32	chr10:5074993-5075043	HRCEpiC	kidney:	n/a
33	chr10:5074993-5075043	H1-hESC	embryonic stem cell:	embryo
34	chr10:5074993-5075043	SK-N-SH	brain:	n/a
35	chr10:5074993-5075043	HAEpiC	amniotic membrane:	n/a
36	chr10:5074993-5075043	NB4	blood:	n/a
37	chr10:5074993-5075043	Caco-2	colon:	n/a
38	chr10:5074993-5075043	HIPEpiC	eye:	n/a
39	chr10:5074993-5075043	BE2_C	brain:	n/a
40	chr10:5074993-5075043	PFSK-1	brain:	n/a
41	chr10:5074993-5075043	MCF-7	breast:	n/a
42	chr10:5074993-5075043	SAEC	small airway:	n/a
43	chr10:5074993-5075043	NH-A	brain:	n/a
44	chr10:5074993-5075043	HPAEpiC	pulmonary alveolar:	n/a
45	chr10:5074993-5075043	HRPEpiC	eye:	n/a
46	chr10:5074993-5075043	GM06990	blood:	n/a
47	chr10:5074993-5075043	HEK293	kidney:	embryo
48	chr10:5074993-5075043	HepG2	liver:	n/a
49	chr10:5074993-5075043	ovcar-3	ovarian:	n/a
50	chr10:5074993-5075043	HCPEpiC	choroid plexus:	n/a

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:5067000..5068647-chr10:5074072..5076812,2	MCF-7	breast:
2	chr10:5074304..5076231-chr10:5473842..5475799,2	K562	blood:
3	chr10:5073664..5075237-chr10:5075576..5077420,2	MCF-7	breast:

No data

Variant related genes	Relation type
AKR1C3	CpG island

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10400188	0.89[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs10736995	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10736996	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10795237	0.90[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs10795238	0.90[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs10795240	0.91[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs10904401	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12249281	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1937838	0.92[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1937896	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1937897	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2096421	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2105451	0.90[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2211628	0.90[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2263348	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2801899	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2801901	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2801904	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2801905	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2801911	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2801913	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2801914	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2801916	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2801917	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2801920	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4242784	0.81[AMR][1000 genomes]
rs4255442	0.90[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4551664	0.90[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4881381	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57018498	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6601895	0.90[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7068555	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7070192	0.88[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7081787	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7089756	0.92[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7100778	0.88[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7898816	0.87[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7900708	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7904013	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7907397	0.92[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7911668	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7913122	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7921957	0.90[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs9702133	0.88[AMR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv894792	chr10:4832920-5498724	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv948794	chr10:4863093-5227382	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv1045155	chr10:4872239-5211318	Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv1040343	chr10:4872814-5196815	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv540462	chr10:4872814-5196815	Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	nsv869470	chr10:4878904-5203685	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
7	nsv466713	chr10:4901798-5319679	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	nsv549881	chr10:4901798-5319679	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
9	nsv534685	chr10:4914018-5853324	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats 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	68 gene(s)	inside rSNPs	diseases
10	nsv1050246	chr10:4927428-5211318	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
11	nsv549882	chr10:4943518-5203864	Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
12	esv2763913	chr10:4961021-5321407	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
13	nsv894794	chr10:4972761-5121745	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
14	nsv430122	chr10:4986040-5134511	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
15	nsv1039386	chr10:5008383-5348491	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
16	nsv1036566	chr10:5037926-5261426	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
17	nsv549883	chr10:5037926-5275762	Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
18	nsv831773	chr10:5069805-5109716	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:5068000-5075200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr10:5068000-5076800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr10:5073400-5076000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr10:5074000-5075200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr10:5074000-5075400	Weak transcription	HUVEC	blood vessel
6	chr10:5074000-5078800	Weak transcription	Stomach Mucosa	stomach
7	chr10:5074800-5076600	Enhancers	Hela-S3	cervix
8	chr10:5075000-5075200	Enhancers	Osteobl	bone
9	chr10:5075000-5076000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr10:5075000-5076200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr10:5075000-5076200	Enhancers	NHDF-Ad	bronchial
12	chr10:5075000-5076400	Enhancers	HMEC	breast
13	chr10:5075000-5076800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr10:5075000-5076800	Enhancers	Muscle Satellite Cultured Cells	--

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