Variant report

Variant	rs852460
Chromosome Location	chr7:5665339-5665340
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:5663770..5665922-chr7:5672442..5674114,2	K562	blood:
2	chr7:5663656..5665421-chr7:5667676..5669592,2	K562	blood:
3	chr7:5661872..5664251-chr7:5664462..5667384,2	MCF-7	breast:
4	chr7:5665100..5667122-chr7:5668120..5670662,2	K562	blood:
5	chr7:5663444..5665689-chr7:5666174..5668112,2	K562	blood:
6	chr7:5663770..5665768-chr7:5672068..5673942,2	K562	blood:
7	chr7:5652003..5655064-chr7:5663036..5666683,3	MCF-7	breast:

Extended variants
information (count: 120 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:99)

rs_ID	r²[population]
rs10271741	0.81[ASN][1000 genomes]
rs10807950	0.94[ASN][1000 genomes]
rs10951961	0.94[ASN][1000 genomes]
rs11763027	0.94[ASN][1000 genomes]
rs1640231	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1725186	1.00[ASN][1000 genomes]
rs1725187	1.00[ASN][1000 genomes]
rs1990835	0.94[ASN][1000 genomes]
rs2008418	0.81[ASN][1000 genomes]
rs2008425	0.81[ASN][1000 genomes]
rs2112008	0.94[ASN][1000 genomes]
rs2161012	0.94[ASN][1000 genomes]
rs2345863	0.81[ASN][1000 genomes]
rs2345864	0.94[ASN][1000 genomes]
rs2881234	0.82[ASN][1000 genomes]
rs28874635	0.87[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2908430	1.00[ASN][1000 genomes]
rs3735288	1.00[ASN][1000 genomes]
rs3857756	0.82[ASN][1000 genomes]
rs4720636	0.94[ASN][1000 genomes]
rs4720639	0.94[ASN][1000 genomes]
rs4720645	0.81[ASN][1000 genomes]
rs4724714	0.94[ASN][1000 genomes]
rs4724716	0.94[ASN][1000 genomes]
rs4724720	0.94[ASN][1000 genomes]
rs4724721	0.94[ASN][1000 genomes]
rs4724723	0.94[ASN][1000 genomes]
rs4724727	0.81[ASN][1000 genomes]
rs4724732	0.87[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4724734	0.81[ASN][1000 genomes]
rs62455878	0.81[ASN][1000 genomes]
rs6463508	0.94[ASN][1000 genomes]
rs6463515	0.81[ASN][1000 genomes]
rs66467570	0.81[ASN][1000 genomes]
rs6944453	0.81[ASN][1000 genomes]
rs6945676	0.81[ASN][1000 genomes]
rs6947405	0.94[ASN][1000 genomes]
rs6956990	0.94[ASN][1000 genomes]
rs6969486	0.81[ASN][1000 genomes]
rs710939	1.00[ASN][1000 genomes]
rs710940	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs710942	1.00[ASN][1000 genomes]
rs7784394	0.94[ASN][1000 genomes]
rs7790499	0.94[ASN][1000 genomes]
rs7794571	0.81[ASN][1000 genomes]
rs7809914	0.81[ASN][1000 genomes]
rs852261	0.94[ASN][1000 genomes]
rs852262	0.94[ASN][1000 genomes]
rs852264	0.94[ASN][1000 genomes]
rs852378	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs852393	0.94[ASN][1000 genomes]
rs852395	0.94[ASN][1000 genomes]
rs852396	0.81[EUR][1000 genomes]
rs852398	1.00[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs852399	1.00[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs852401	0.88[ASN][1000 genomes]
rs852403	0.94[ASN][1000 genomes]
rs852404	1.00[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs852405	0.94[ASN][1000 genomes]
rs852407	1.00[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs852408	1.00[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs852411	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs852412	1.00[ASN][1000 genomes]
rs852413	0.94[ASN][1000 genomes]
rs852414	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs852416	1.00[ASN][1000 genomes]
rs852418	1.00[ASN][1000 genomes]
rs852419	0.94[ASN][1000 genomes]
rs852437	1.00[ASN][1000 genomes]
rs852438	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs852439	1.00[ASN][1000 genomes]
rs852440	1.00[ASN][1000 genomes]
rs852442	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs852443	1.00[ASN][1000 genomes]
rs852449	0.94[ASN][1000 genomes]
rs852451	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs852455	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs852458	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs852459	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs852462	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs852465	1.00[ASN][1000 genomes]
rs852466	1.00[ASN][1000 genomes]
rs852467	1.00[ASN][1000 genomes]
rs852469	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs852471	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs852474	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs852475	1.00[ASN][1000 genomes]
rs852476	1.00[ASN][1000 genomes]
rs852477	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs852487	1.00[ASN][1000 genomes]
rs852490	1.00[ASN][1000 genomes]
rs852514	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs852515	0.89[ASN][1000 genomes]
rs852518	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs852521	1.00[ASN][1000 genomes]
rs852523	1.00[ASN][1000 genomes]
rs852524	1.00[ASN][1000 genomes]
rs852525	1.00[ASN][1000 genomes]
rs941016	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869165	chr7:4889618-5799719	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	352 gene(s)	inside rSNPs	diseases
2	nsv530979	chr7:5101631-5864814	Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	350 gene(s)	inside rSNPs	diseases
3	nsv530981	chr7:5157150-5920006	Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	348 gene(s)	inside rSNPs	diseases
4	esv1814049	chr7:5314993-5675131	Active TSS Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	333 gene(s)	inside rSNPs	diseases
5	nsv530983	chr7:5370746-6070852	Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	368 gene(s)	inside rSNPs	diseases
6	nsv887404	chr7:5402606-5667645	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	331 gene(s)	inside rSNPs	diseases
7	nsv916391	chr7:5417945-5889565	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	336 gene(s)	inside rSNPs	diseases
8	nsv887408	chr7:5432672-5667645	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	331 gene(s)	inside rSNPs	diseases
9	nsv830890	chr7:5464933-5705158	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
10	nsv533108	chr7:5488018-6316581	Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	390 gene(s)	inside rSNPs	diseases
11	nsv1025434	chr7:5537571-5705283	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	297 gene(s)	inside rSNPs	diseases
12	nsv482449	chr7:5557585-5743673	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	294 gene(s)	inside rSNPs	diseases
13	nsv1033556	chr7:5565080-6186815	Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	357 gene(s)	inside rSNPs	diseases
14	nsv538710	chr7:5565080-6186815	Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	357 gene(s)	inside rSNPs	diseases
15	nsv887414	chr7:5584934-5667645	Flanking Bivalent TSS/Enh Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
16	nsv887415	chr7:5584934-5675305	Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
17	nsv887416	chr7:5584934-5695259	Genic enhancers Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
18	nsv530467	chr7:5617816-5815082	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
19	nsv1017612	chr7:5629728-5819144	Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
20	nsv1021989	chr7:5629728-6186815	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
21	nsv1034883	chr7:5651680-5696147	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:5638800-5671000	Weak transcription	Right Atrium	heart
2	chr7:5647600-5673200	Weak transcription	Fetal Brain Male	brain
3	chr7:5650000-5669600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr7:5655600-5673200	Weak transcription	Psoas Muscle	Psoas
5	chr7:5655800-5665400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr7:5657400-5665600	Strong transcription	Fetal Intestine Small	intestine
7	chr7:5658200-5666400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
8	chr7:5658400-5665400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr7:5658400-5665600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr7:5658400-5666200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
11	chr7:5658600-5668600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr7:5659000-5665400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr7:5659000-5665400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr7:5659000-5667200	Strong transcription	Liver	Liver
15	chr7:5659000-5667600	Strong transcription	Thymus	Thymus
16	chr7:5659000-5668200	Strong transcription	Primary neutrophils fromperipheralblood	blood
17	chr7:5659000-5669800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr7:5659000-5672800	Strong transcription	Primary monocytes fromperipheralblood	blood
19	chr7:5659200-5673400	Strong transcription	Dnd41	blood
20	chr7:5659800-5667000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr7:5660200-5666000	Strong transcription	Primary T helper cells PMA-I stimulated	--
22	chr7:5660200-5669200	Strong transcription	Primary T cells from cord blood	blood
23	chr7:5660400-5668000	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr7:5660600-5666000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr7:5660600-5666200	Strong transcription	Primary B cells from cord blood	blood
26	chr7:5660600-5667000	Strong transcription	Primary T cells fromperipheralblood	blood
27	chr7:5660600-5693800	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr7:5661000-5665600	Strong transcription	Primary B cells from peripheral blood	blood
29	chr7:5661000-5667000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr7:5661200-5665400	Strong transcription	Brain Angular Gyrus	brain
31	chr7:5661200-5665400	Strong transcription	Skeletal Muscle Female	skeletal muscle
32	chr7:5661200-5665400	Strong transcription	HepG2	liver
33	chr7:5661200-5665600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr7:5661200-5665600	Strong transcription	Placenta	Placenta
35	chr7:5661200-5665800	Strong transcription	Rectal Mucosa Donor 31	rectum
36	chr7:5661200-5666000	Strong transcription	Rectal Mucosa Donor 29	rectum
37	chr7:5661200-5666600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr7:5661400-5665400	Strong transcription	A549	lung
39	chr7:5661400-5667000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr7:5661400-5668000	Strong transcription	Sigmoid Colon	Sigmoid Colon
41	chr7:5661400-5669800	Strong transcription	Primary T helper cells fromperipheralblood	blood
42	chr7:5661800-5665800	Strong transcription	Primary hematopoietic stem cells	blood
43	chr7:5661800-5666200	Strong transcription	Fetal Thymus	thymus
44	chr7:5661800-5673600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
45	chr7:5662000-5665400	Strong transcription	HUES48 Cell Line	embryonic stem cell
46	chr7:5662000-5665400	Strong transcription	HUES64 Cell Line	embryonic stem cell
47	chr7:5662200-5665800	Strong transcription	GM12878-XiMat	blood
48	chr7:5662400-5665800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr7:5662600-5665600	Strong transcription	Lung	lung
50	chr7:5663000-5669400	Weak transcription	HUVEC	blood vessel

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