Variant report

Variant	rs7723992
Chromosome Location	chr5:41853514-41853515
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:41850949..41853870-chr5:41854462..41856684,2	MCF-7	breast:
2	chr5:41843869..41846135-chr5:41851882..41853656,2	K562	blood:
3	chr5:41851290..41853624-chr5:41855397..41858252,2	K562	blood:

Extended variants
information (count: 155 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:151)

rs_ID	r²[population]
rs10035434	1.00[EUR][1000 genomes]
rs10040757	1.00[EUR][1000 genomes]
rs10043326	1.00[EUR][1000 genomes]
rs10043371	1.00[EUR][1000 genomes]
rs10045473	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs10051322	1.00[EUR][1000 genomes]
rs10052226	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs10053522	1.00[EUR][1000 genomes]
rs10054130	1.00[EUR][1000 genomes]
rs10057546	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10057587	1.00[EUR][1000 genomes]
rs10057645	1.00[EUR][1000 genomes]
rs10059424	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs10060170	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs10062703	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs10064298	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs10064380	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes]
rs10065016	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10065335	1.00[EUR][1000 genomes]
rs10069638	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10070201	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10075429	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10076689	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10077481	1.00[CEU][hapmap];0.93[GIH][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes]
rs10078011	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10079651	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs1027348	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10472357	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs10472359	0.87[EUR][1000 genomes]
rs10473252	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10473255	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs11738956	0.95[EUR][1000 genomes]
rs11741731	1.00[CEU][hapmap]
rs11744826	0.87[EUR][1000 genomes]
rs11745460	1.00[EUR][1000 genomes]
rs11745530	1.00[EUR][1000 genomes]
rs11746530	1.00[EUR][1000 genomes]
rs11747648	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs11747941	0.87[EUR][1000 genomes]
rs11748575	1.00[CEU][hapmap]
rs11748578	1.00[CEU][hapmap]
rs11748933	1.00[EUR][1000 genomes]
rs12109887	0.87[EUR][1000 genomes]
rs13353950	1.00[CEU][hapmap]
rs13355194	1.00[EUR][1000 genomes]
rs13357951	1.00[EUR][1000 genomes]
rs13357980	1.00[CEU][hapmap]
rs13358459	1.00[EUR][1000 genomes]
rs13436920	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap]
rs1423242	0.87[EUR][1000 genomes]
rs1423243	0.87[EUR][1000 genomes]
rs1567323	1.00[EUR][1000 genomes]
rs167583	0.87[EUR][1000 genomes]
rs16872052	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs170299	0.87[EUR][1000 genomes]
rs17339188	1.00[EUR][1000 genomes]
rs188818	0.87[EUR][1000 genomes]
rs2113053	0.83[EUR][1000 genomes]
rs222224	0.87[EUR][1000 genomes]
rs2231910	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs2453241	0.87[EUR][1000 genomes]
rs28647448	1.00[EUR][1000 genomes]
rs316710	0.83[EUR][1000 genomes]
rs316711	0.87[EUR][1000 genomes]
rs316712	0.87[EUR][1000 genomes]
rs316713	0.87[EUR][1000 genomes]
rs316714	0.87[EUR][1000 genomes]
rs316715	0.87[EUR][1000 genomes]
rs316729	0.87[EUR][1000 genomes]
rs316731	0.87[EUR][1000 genomes]
rs316732	0.87[EUR][1000 genomes]
rs316733	0.87[EUR][1000 genomes]
rs316734	0.87[EUR][1000 genomes]
rs316743	0.87[EUR][1000 genomes]
rs316746	0.87[EUR][1000 genomes]
rs316747	0.87[EUR][1000 genomes]
rs316748	0.87[EUR][1000 genomes]
rs316749	0.87[EUR][1000 genomes]
rs316750	0.87[EUR][1000 genomes]
rs316752	0.87[EUR][1000 genomes]
rs316754	0.87[EUR][1000 genomes]
rs316756	0.87[EUR][1000 genomes]
rs316757	0.87[EUR][1000 genomes]
rs316758	0.87[EUR][1000 genomes]
rs34493032	1.00[EUR][1000 genomes]
rs35890705	1.00[EUR][1000 genomes]
rs4957178	1.00[EUR][1000 genomes]
rs4957180	1.00[EUR][1000 genomes]
rs4957434	1.00[CEU][hapmap]
rs4957436	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs4957437	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs4957438	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs57944767	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs582920	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs583090	0.87[EUR][1000 genomes]
rs584067	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs590851	0.90[EUR][1000 genomes]
rs591384	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs602274	0.90[EUR][1000 genomes]
rs605064	0.85[EUR][1000 genomes]
rs607620	0.87[EUR][1000 genomes]
rs609410	0.87[EUR][1000 genomes]
rs61058110	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs614952	0.87[EUR][1000 genomes]
rs621944	0.87[EUR][1000 genomes]
rs627476	0.87[EUR][1000 genomes]
rs641270	0.87[EUR][1000 genomes]
rs654400	0.87[EUR][1000 genomes]
rs67152480	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs675785	0.87[EUR][1000 genomes]
rs675812	0.87[EUR][1000 genomes]
rs678061	0.92[EUR][1000 genomes]
rs679399	0.87[EUR][1000 genomes]
rs72746926	0.95[EUR][1000 genomes]
rs72746928	0.95[EUR][1000 genomes]
rs72746930	0.95[EUR][1000 genomes]
rs72746932	0.95[EUR][1000 genomes]
rs72746933	0.93[EUR][1000 genomes]
rs72746952	0.95[EUR][1000 genomes]
rs72746962	0.90[EUR][1000 genomes]
rs72746966	0.95[EUR][1000 genomes]
rs72746968	0.95[EUR][1000 genomes]
rs72746975	0.95[EUR][1000 genomes]
rs72746983	0.95[EUR][1000 genomes]
rs72746985	1.00[EUR][1000 genomes]
rs72746995	1.00[EUR][1000 genomes]
rs72746996	0.95[EUR][1000 genomes]
rs72746997	0.95[EUR][1000 genomes]
rs72746999	1.00[EUR][1000 genomes]
rs72747000	1.00[EUR][1000 genomes]
rs72747001	1.00[EUR][1000 genomes]
rs72747002	1.00[EUR][1000 genomes]
rs72748607	1.00[EUR][1000 genomes]
rs72748608	1.00[EUR][1000 genomes]
rs72748609	1.00[EUR][1000 genomes]
rs72748611	1.00[EUR][1000 genomes]
rs72748613	1.00[EUR][1000 genomes]
rs72748614	1.00[EUR][1000 genomes]
rs72748616	1.00[EUR][1000 genomes]
rs72748619	1.00[EUR][1000 genomes]
rs72748620	1.00[EUR][1000 genomes]
rs72748623	0.83[EUR][1000 genomes]
rs72761834	0.87[EUR][1000 genomes]
rs7341062	1.00[EUR][1000 genomes]
rs7706652	0.87[EUR][1000 genomes]
rs7712106	1.00[EUR][1000 genomes]
rs9292826	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9292828	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9292832	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs9885033	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs9885117	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830271	chr5:41716527-41895710	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent Enhancer 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	45 gene(s)	inside rSNPs	diseases
2	esv2762518	chr5:41780210-41935113	Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	108 gene(s)	inside rSNPs	diseases
3	nsv830272	chr5:41833365-41986167	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	111 gene(s)	inside rSNPs	diseases
4	nsv4811	chr5:41844522-41887353	Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:41824600-41859400	Weak transcription	Spleen	Spleen
2	chr5:41831200-41854400	Weak transcription	Colonic Mucosa	Colon
3	chr5:41832800-41869200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr5:41836000-41857200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr5:41836600-41863800	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr5:41837200-41858600	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr5:41841800-41869200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr5:41843800-41855600	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr5:41849000-41853800	Strong transcription	NHDF-Ad	bronchial
10	chr5:41849000-41855200	Strong transcription	HUES64 Cell Line	embryonic stem cell
11	chr5:41849000-41856000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr5:41849000-41856200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr5:41849000-41856400	Strong transcription	Adipose Nuclei	Adipose
14	chr5:41849000-41856600	Strong transcription	Primary T helper cells fromperipheralblood	blood
15	chr5:41849000-41856600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr5:41849000-41857000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
17	chr5:41849000-41857000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr5:41849000-41857200	Strong transcription	Primary T helper cells PMA-I stimulated	--
19	chr5:41849000-41857200	Strong transcription	K562	blood
20	chr5:41849000-41857800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr5:41849000-41862200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr5:41849000-41862600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr5:41849000-41862800	Strong transcription	Primary B cells from peripheral blood	blood
24	chr5:41849000-41862800	Strong transcription	Fetal Thymus	thymus
25	chr5:41849200-41853800	Strong transcription	Cortex derived primary cultured neurospheres	brain
26	chr5:41849200-41854000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr5:41849200-41854000	Strong transcription	Primary T cells from cord blood	blood
28	chr5:41849200-41854000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr5:41849200-41854000	Strong transcription	Brain Anterior Caudate	brain
30	chr5:41849200-41854000	Strong transcription	HMEC	breast
31	chr5:41849200-41854000	Strong transcription	Osteobl	bone
32	chr5:41849200-41854200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr5:41849200-41854200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr5:41849200-41854200	Strong transcription	NH-A	brain
35	chr5:41849200-41854400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
36	chr5:41849200-41854400	Strong transcription	Duodenum Smooth Muscle	Duodenum
37	chr5:41849200-41854400	Strong transcription	Fetal Kidney	kidney
38	chr5:41849200-41854600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr5:41849200-41855400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr5:41849200-41855600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr5:41849200-41855800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
42	chr5:41849200-41855800	Strong transcription	HUVEC	blood vessel
43	chr5:41849200-41856200	Strong transcription	Primary T helper naive cells from peripheral blood	blood
44	chr5:41849200-41856400	Strong transcription	Primary B cells from cord blood	blood
45	chr5:41849200-41856400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr5:41849200-41856600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr5:41849200-41856600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr5:41849200-41856600	Strong transcription	NHEK	skin
49	chr5:41849200-41856800	Strong transcription	Primary hematopoietic stem cells	blood
50	chr5:41849200-41857000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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