Variant report

Variant	rs13310449
Chromosome Location	chr7:40031268-40031269
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:39987287..39990526-chr7:40030076..40032814,4	MCF-7	breast:
2	chr7:40025445..40027288-chr7:40029164..40032016,2	K562	blood:
3	chr7:40031268..40032823-chr7:40035953..40037510,2	MCF-7	breast:
4	chr7:40030873..40032517-chr7:40032744..40035272,2	MCF-7	breast:
5	chr7:39988482..39990728-chr7:40029986..40032615,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000259826	Chromatin interaction
ENSG00000065883	Chromatin interaction

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10046564	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10224206	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10225492	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10228596	1.00[CHB][hapmap]
rs10234693	0.81[CEU][hapmap]
rs10235989	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10239324	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10246466	0.81[CEU][hapmap]
rs10247292	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10253590	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10272514	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10272641	0.81[CEU][hapmap]
rs10275761	0.81[CEU][hapmap]
rs10277422	1.00[CHB][hapmap]
rs10277853	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10279016	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1082023	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1257699	0.81[CEU][hapmap]
rs12701787	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13231977	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13239106	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13241453	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13310480	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17434388	1.00[CHB][hapmap]
rs17435812	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17496226	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17496247	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17526699	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2052097	0.81[CEU][hapmap]
rs2140254	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2329611	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28492942	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28547436	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28638437	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34326687	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34470312	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34748607	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35052806	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35082351	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35618050	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4273753	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4428576	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4481477	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4498451	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6947071	0.81[EUR][1000 genomes]
rs6952597	0.81[CEU][hapmap]
rs73127832	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73127862	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs731847	0.81[CEU][hapmap]
rs773382	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs773393	0.81[CEU][hapmap]
rs773402	0.81[CEU][hapmap]
rs773424	0.81[CEU][hapmap]
rs7780996	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7797041	0.81[CEU][hapmap]
rs7799846	0.80[CEU][hapmap]
rs809558	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs878785	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9639817	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9639820	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9655036	1.00[CHB][hapmap]
rs9655407	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9690347	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9986996	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9986997	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv887973	chr7:39772654-40110720	Strong transcription Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
2	nsv887975	chr7:39858378-40124137	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
3	nsv1015322	chr7:40006195-40141195	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	esv2761319	chr7:40006195-40142139	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
5	nsv464436	chr7:40018693-40133044	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv606706	chr7:40018693-40133044	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv606707	chr7:40021044-40133044	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	nsv606708	chr7:40021044-40157040	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
9	nsv887978	chr7:40030488-40124137	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:39993600-40048200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr7:39995200-40042600	Weak transcription	K562	blood
3	chr7:40018600-40047800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr7:40020000-40037400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr7:40020400-40077600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr7:40023400-40046800	Weak transcription	HMEC	breast
7	chr7:40023800-40043200	Weak transcription	Stomach Smooth Muscle	stomach
8	chr7:40025000-40031400	Weak transcription	Fetal Intestine Small	intestine
9	chr7:40025400-40033200	Weak transcription	NHLF	lung
10	chr7:40025600-40031400	Weak transcription	Ovary	ovary
11	chr7:40025600-40031400	Weak transcription	Psoas Muscle	Psoas
12	chr7:40025600-40035600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr7:40025600-40037200	Weak transcription	Fetal Lung	lung
14	chr7:40025600-40042600	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr7:40025600-40046800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr7:40025600-40055400	Weak transcription	Rectal Smooth Muscle	rectum
17	chr7:40025800-40031400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr7:40025800-40031400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr7:40025800-40031400	Weak transcription	Lung	lung
20	chr7:40025800-40035000	Weak transcription	GM12878-XiMat	blood
21	chr7:40025800-40039600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr7:40025800-40043200	Weak transcription	Left Ventricle	heart
23	chr7:40025800-40054800	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr7:40025800-40055400	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr7:40025800-40055400	Weak transcription	Fetal Heart	heart
26	chr7:40025800-40055400	Weak transcription	Stomach Mucosa	stomach
27	chr7:40025800-40059600	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr7:40025800-40062800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr7:40025800-40082200	Weak transcription	Spleen	Spleen
30	chr7:40026000-40071200	Weak transcription	Brain Germinal Matrix	brain
31	chr7:40026200-40031400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr7:40026400-40036800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr7:40026600-40096800	Weak transcription	Right Ventricle	heart
34	chr7:40026800-40032200	Strong transcription	Primary B cells from cord blood	blood
35	chr7:40026800-40032200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
36	chr7:40026800-40032800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr7:40027200-40031800	Strong transcription	Primary hematopoietic stem cells	blood
38	chr7:40027200-40031800	Strong transcription	Monocytes-CD14+_RO01746	blood
39	chr7:40027200-40032200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr7:40027400-40032600	Weak transcription	Colon Smooth Muscle	Colon
41	chr7:40027400-40045400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr7:40027600-40031400	Weak transcription	Gastric	stomach
43	chr7:40027600-40032200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr7:40027600-40042000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr7:40027600-40042400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr7:40027600-40042400	Weak transcription	Esophagus	oesophagus
47	chr7:40027600-40043200	Weak transcription	Pancreas	Pancrea
48	chr7:40027800-40033000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr7:40027800-40042200	Weak transcription	Osteobl	bone
50	chr7:40027800-40047400	Weak transcription	Fetal Kidney	kidney

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