Variant report

Variant	rs7906245
Chromosome Location	chr10:5023984-5023985
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:5023921..5025963-chr10:5094008..5095926,2	MCF-7	breast:
2	chr10:5023796..5026040-chr10:5031260..5032791,2	K562	blood:
3	chr10:4891514..4892562-chr10:5023687..5025924,15	MCF-7	breast:
4	chr10:4891535..4892324-chr10:5023515..5024836,4	MCF-7	breast:
5	chr10:4911007..4912573-chr10:5023921..5026705,2	K562	blood:
6	chr10:4857646..4858298-chr10:5023972..5024754,3	MCF-7	breast:
7	chr10:5023813..5025849-chr10:5137556..5139143,2	K562	blood:
8	chr10:4867291..4868823-chr10:5022590..5025405,2	K562	blood:
9	chr10:4893212..4893987-chr10:5023967..5024540,4	MCF-7	breast:
10	chr10:5022739..5024559-chr10:5026616..5029182,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AKR1C3-4	chr10:5022258-5025472	NONHSAT011123

No data

Variant related genes	Relation type
ENSG00000196139	Chromatin interaction
ENSG00000165568	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11252853	0.81[AMR][1000 genomes]
rs12263706	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12264439	0.82[AMR][1000 genomes]
rs12264914	0.83[AMR][1000 genomes]
rs12355347	0.85[ASN][1000 genomes]
rs35767584	0.80[ASN][1000 genomes]
rs3890593	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3890643	0.80[ASN][1000 genomes]
rs3898029	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3923936	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3925947	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4445550	0.82[AMR][1000 genomes]
rs4512733	0.91[AMR][1000 genomes]
rs56136181	0.88[ASN][1000 genomes]
rs6601882	0.84[AMR][1000 genomes]
rs6601883	0.85[AMR][1000 genomes]
rs6601884	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6650153	0.88[ASN][1000 genomes]
rs67362530	0.80[ASN][1000 genomes]
rs68057779	0.80[ASN][1000 genomes]
rs7076886	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7089378	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs71230207	0.80[ASN][1000 genomes]
rs7916644	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 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	nsv825221	chr10:4999349-5046239	Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
16	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7906245	AKR1C1	cis	Whole Blood	GTEx

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:5005800-5027400	Weak transcription	Fetal Stomach	stomach
2	chr10:5005800-5045800	Weak transcription	HSMMtube	muscle
3	chr10:5006000-5024000	Weak transcription	Fetal Muscle Trunk	muscle
4	chr10:5007400-5024200	Weak transcription	NHEK	skin
5	chr10:5008200-5044000	Weak transcription	Fetal Brain Male	brain
6	chr10:5009400-5027200	Weak transcription	Spleen	Spleen
7	chr10:5009600-5024000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr10:5009600-5027000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr10:5010200-5024000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr10:5011600-5044200	Weak transcription	Fetal Brain Female	brain
11	chr10:5011800-5024200	Weak transcription	Aorta	Aorta
12	chr10:5011800-5027000	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr10:5011800-5043800	Weak transcription	Psoas Muscle	Psoas
14	chr10:5012000-5024000	Weak transcription	Osteobl	bone
15	chr10:5012000-5027000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr10:5016000-5024000	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr10:5019400-5044600	Weak transcription	Brain Germinal Matrix	brain
18	chr10:5021600-5032600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr10:5021800-5024000	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr10:5021800-5044400	Weak transcription	NHDF-Ad	bronchial
21	chr10:5023200-5024000	Strong transcription	Liver	Liver
22	chr10:5023200-5024000	Enhancers	Stomach Mucosa	stomach
23	chr10:5023200-5024800	Enhancers	Fetal Intestine Large	intestine
24	chr10:5023600-5024400	Enhancers	HepG2	liver
25	chr10:5023600-5024800	Enhancers	Fetal Intestine Small	intestine
26	chr10:5023600-5025400	Enhancers	Fetal Muscle Leg	muscle
27	chr10:5023800-5024000	Enhancers	Duodenum Mucosa	Duodenum
28	chr10:5023800-5024000	Flanking Active TSS	Fetal Heart	heart
29	chr10:5023800-5024000	Enhancers	Rectal Mucosa Donor 29	rectum
30	chr10:5023800-5024000	Enhancers	Skeletal Muscle Male	skeletal muscle
31	chr10:5023800-5024000	Genic enhancers	Stomach Smooth Muscle	stomach
32	chr10:5023800-5024200	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr10:5023800-5024200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr10:5023800-5024200	Enhancers	Lung	lung
35	chr10:5023800-5024400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr10:5023800-5024400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr10:5023800-5024400	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr10:5023800-5024400	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr10:5023800-5024400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr10:5023800-5024400	Enhancers	Primary hematopoietic stem cells	blood
41	chr10:5023800-5024400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr10:5023800-5024400	Enhancers	Colon Smooth Muscle	Colon
43	chr10:5023800-5024400	Genic enhancers	Esophagus	oesophagus
44	chr10:5023800-5024400	Enhancers	Fetal Lung	lung
45	chr10:5023800-5024400	Enhancers	Ovary	ovary
46	chr10:5023800-5024400	Enhancers	Right Atrium	heart
47	chr10:5023800-5024400	Flanking Active TSS	K562	blood
48	chr10:5023800-5024600	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr10:5023800-5024600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr10:5023800-5024600	Enhancers	Gastric	stomach

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