Variant report

Variant	rs6518345
Chromosome Location	chr21:45477100-45477101
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:45438119..45440694-chr21:45475384..45477960,3	K562	blood:
2	chr21:45474928..45477593-chr21:45490413..45492194,2	K562	blood:
3	chr21:45388765..45391178-chr21:45475635..45477292,2	K562	blood:
4	chr21:45419334..45421433-chr21:45476805..45478388,2	K562	blood:
5	chr21:45454972..45457368-chr21:45476022..45478398,2	MCF-7	breast:
6	chr21:45476652..45480295-chr21:45485072..45489102,4	MCF-7	breast:
7	chr21:45473377..45479336-chr21:45481371..45487468,11	K562	blood:

Extended variants
information (count: 87 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs1131999	0.85[JPT][hapmap]
rs11700972	0.89[CHB][hapmap];0.90[JPT][hapmap]
rs12627239	0.86[JPT][hapmap]
rs13049059	0.85[JPT][hapmap]
rs1858665	0.86[JPT][hapmap]
rs2020944	0.82[ASN][1000 genomes]
rs2020945	0.84[CHB][hapmap];0.85[JPT][hapmap]
rs2020946	0.86[JPT][hapmap]
rs2020948	0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs2071142	0.84[CHB][hapmap];0.85[JPT][hapmap]
rs2071143	0.85[JPT][hapmap]
rs2071146	0.86[JPT][hapmap]
rs2071152	0.84[CHB][hapmap];0.85[JPT][hapmap]
rs2073432	0.90[JPT][hapmap]
rs2073433	0.81[JPT][hapmap]
rs2156428	0.84[JPT][hapmap]
rs2238704	0.84[CHB][hapmap];0.85[JPT][hapmap]
rs2238707	0.86[JPT][hapmap]
rs2238711	0.84[CHB][hapmap];0.85[JPT][hapmap]
rs2242950	0.84[CHB][hapmap];0.86[JPT][hapmap]
rs2242953	0.86[JPT][hapmap]
rs2242954	0.86[JPT][hapmap]
rs2243999	0.84[CHB][hapmap];0.84[JPT][hapmap]
rs2245380	0.86[JPT][hapmap]
rs2245386	0.86[JPT][hapmap]
rs2245462	0.84[CHB][hapmap];0.85[JPT][hapmap]
rs2245759	0.86[JPT][hapmap]
rs2247400	0.81[JPT][hapmap]
rs2251267	0.84[CHB][hapmap];0.85[JPT][hapmap]
rs2255716	0.86[JPT][hapmap]
rs2255828	0.84[CHB][hapmap];0.85[JPT][hapmap];0.80[ASN][1000 genomes]
rs2256441	0.84[CHB][hapmap];0.85[JPT][hapmap]
rs2276530	0.86[JPT][hapmap]
rs2277806	0.84[CHB][hapmap];0.85[JPT][hapmap]
rs2299812	0.86[JPT][hapmap]
rs2299815	0.86[JPT][hapmap]
rs2299820	0.86[JPT][hapmap]
rs2516519	0.86[JPT][hapmap]
rs2838468	0.86[JPT][hapmap]
rs2838473	0.86[JPT][hapmap]
rs2838474	0.81[ASN][1000 genomes]
rs2838476	0.84[CHB][hapmap];0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs2838477	0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs2838478	0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs2838480	0.81[ASN][1000 genomes]
rs2838482	0.86[JPT][hapmap]
rs2838483	0.86[JPT][hapmap]
rs2838485	0.86[JPT][hapmap]
rs2838486	0.84[CHB][hapmap];0.85[JPT][hapmap]
rs2838488	0.86[JPT][hapmap]
rs2838489	0.86[JPT][hapmap]
rs2838490	0.84[CHB][hapmap];0.85[JPT][hapmap]
rs2838491	0.84[CHB][hapmap];0.85[JPT][hapmap]
rs2838492	0.86[JPT][hapmap]
rs2838494	0.86[JPT][hapmap]
rs2838496	0.81[JPT][hapmap]
rs2838502	0.84[CHB][hapmap]
rs2838503	0.84[CHB][hapmap]
rs28859288	0.81[ASN][1000 genomes]
rs3788097	0.89[CHB][hapmap];0.85[JPT][hapmap]
rs4819366	0.86[JPT][hapmap]
rs4819376	0.84[CHB][hapmap];0.85[JPT][hapmap]
rs4819378	0.86[JPT][hapmap]
rs56384549	0.82[ASN][1000 genomes]
rs7277269	0.84[CHB][hapmap];0.85[JPT][hapmap]
rs7279727	0.86[JPT][hapmap]
rs7280558	0.84[CHB][hapmap]
rs7281768	0.86[JPT][hapmap]
rs729882	0.81[JPT][hapmap]
rs756554	0.84[CHB][hapmap];0.85[JPT][hapmap]
rs8126564	0.81[JPT][hapmap]
rs8126958	0.84[CHB][hapmap];0.85[JPT][hapmap]
rs8133422	0.81[ASN][1000 genomes]
rs915878	0.86[JPT][hapmap]
rs9306171	0.84[CHB][hapmap];0.85[JPT][hapmap]
rs9306172	0.84[CHB][hapmap];0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs968714	0.84[CHB][hapmap];0.85[JPT][hapmap]
rs9974315	0.81[ASN][1000 genomes]
rs9975708	0.86[JPT][hapmap]
rs9981257	0.86[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33817	chr21:45169412-46031810	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	121 gene(s)	inside rSNPs	diseases
2	nsv913887	chr21:45344799-45670770	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv459293	chr21:45415913-45555079	Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv587721	chr21:45415913-45555079	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	nsv1064549	chr21:45446358-45493720	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1064420	chr21:45460089-45814986	Enhancers Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
7	nsv544472	chr21:45460089-45814986	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6518345	PWP2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45445400-45509400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr21:45446400-45502200	Weak transcription	Fetal Heart	heart
3	chr21:45446600-45479600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr21:45451000-45494400	Weak transcription	Fetal Brain Male	brain
5	chr21:45458000-45482800	Weak transcription	HMEC	breast
6	chr21:45458200-45479400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr21:45458200-45483000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr21:45459400-45478000	Weak transcription	Aorta	Aorta
9	chr21:45459400-45483000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr21:45460000-45477800	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr21:45463400-45480600	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr21:45463400-45485200	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr21:45463600-45485000	Strong transcription	Thymus	Thymus
14	chr21:45464200-45480000	Strong transcription	Primary B cells from peripheral blood	blood
15	chr21:45465200-45485200	Strong transcription	Primary neutrophils fromperipheralblood	blood
16	chr21:45465800-45480000	Strong transcription	Dnd41	blood
17	chr21:45465800-45485000	Strong transcription	Fetal Thymus	thymus
18	chr21:45465800-45487800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr21:45466000-45480800	Strong transcription	Primary T cells from cord blood	blood
20	chr21:45466000-45484400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr21:45466200-45480600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr21:45468400-45502400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr21:45468800-45502600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr21:45469000-45480000	Strong transcription	Primary hematopoietic stem cells	blood
25	chr21:45469000-45480400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr21:45469400-45487000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr21:45469400-45502000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr21:45470400-45478000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr21:45470400-45480600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr21:45470800-45480000	Strong transcription	GM12878-XiMat	blood
31	chr21:45471200-45477800	Strong transcription	Primary T helper cells PMA-I stimulated	--
32	chr21:45471200-45477800	Strong transcription	Primary T helper cells fromperipheralblood	blood
33	chr21:45471400-45480000	Strong transcription	Esophagus	oesophagus
34	chr21:45471400-45480400	Strong transcription	HUES6 Cell Line	embryonic stem cell
35	chr21:45471400-45487000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr21:45471600-45477800	Strong transcription	K562	blood
37	chr21:45471600-45480000	Strong transcription	Primary T helper naive cells from peripheral blood	blood
38	chr21:45471800-45477800	Strong transcription	Primary T cells fromperipheralblood	blood
39	chr21:45471800-45480600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr21:45471800-45495400	Strong transcription	Fetal Muscle Leg	muscle
41	chr21:45471800-45502200	Strong transcription	Fetal Intestine Small	intestine
42	chr21:45472000-45477600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr21:45472000-45477800	Weak transcription	Fetal Lung	lung
44	chr21:45472000-45480400	Strong transcription	Adipose Nuclei	Adipose
45	chr21:45472000-45480400	Strong transcription	Sigmoid Colon	Sigmoid Colon
46	chr21:45472000-45494200	Weak transcription	Psoas Muscle	Psoas
47	chr21:45472000-45502600	Strong transcription	Duodenum Mucosa	Duodenum
48	chr21:45472200-45479000	Weak transcription	Small Intestine	intestine
49	chr21:45472200-45480000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr21:45472200-45480600	Strong transcription	Rectal Mucosa Donor 29	rectum

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