Variant report

Variant	rs13278875
Chromosome Location	chr8:103297642-103297643
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:103269830..103271400-chr8:103295991..103297872,2	K562	blood:
2	chr8:103270450..103272206-chr8:103296928..103298886,2	MCF-7	breast:

Extended variants
information (count: 92 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs10090707	1.00[MEX][hapmap]
rs1037700	1.00[JPT][hapmap]
rs10505020	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11774038	1.00[JPT][hapmap]
rs11774772	1.00[JPT][hapmap]
rs11778468	1.00[JPT][hapmap]
rs11780954	1.00[JPT][hapmap]
rs11781662	1.00[JPT][hapmap]
rs12707772	0.93[CEU][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13248603	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13249865	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13250998	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13259151	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13261195	1.00[JPT][hapmap]
rs13261528	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13262662	0.95[EUR][1000 genomes]
rs13263132	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13267660	1.00[JPT][hapmap]
rs13269273	0.80[CEU][hapmap]
rs13269311	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13270908	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13278113	1.00[JPT][hapmap]
rs13278798	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1465164	1.00[ASN][1000 genomes]
rs1465165	1.00[ASN][1000 genomes]
rs1465166	1.00[ASN][1000 genomes]
rs16869130	1.00[ASN][1000 genomes]
rs16869132	1.00[ASN][1000 genomes]
rs16869352	1.00[JPT][hapmap]
rs17415702	1.00[ASN][1000 genomes]
rs17415729	1.00[ASN][1000 genomes]
rs17415778	1.00[ASN][1000 genomes]
rs17416694	1.00[ASN][1000 genomes]
rs17500046	1.00[ASN][1000 genomes]
rs17500151	1.00[ASN][1000 genomes]
rs17500306	1.00[ASN][1000 genomes]
rs17500367	1.00[ASN][1000 genomes]
rs17506740	1.00[ASN][1000 genomes]
rs17506775	1.00[ASN][1000 genomes]
rs17507464	1.00[ASN][1000 genomes]
rs17507512	1.00[ASN][1000 genomes]
rs2061299	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.82[MEX][hapmap];1.00[MKK][hapmap];0.86[TSI][hapmap];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2305832	1.00[JPT][hapmap]
rs28927991	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs28999669	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34270914	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34278087	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34279135	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34297513	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34351006	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34356268	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34730203	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34976508	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35166521	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35316247	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35558370	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35818724	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs35873559	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35969173	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35980679	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs36178006	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3735723	1.00[JPT][hapmap]
rs3899035	1.00[ASN][1000 genomes]
rs4483125	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56003023	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59572423	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71518852	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71518861	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71518862	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs718165	1.00[JPT][hapmap]
rs72681127	1.00[ASN][1000 genomes]
rs72681128	1.00[ASN][1000 genomes]
rs72681129	1.00[ASN][1000 genomes]
rs72681131	1.00[ASN][1000 genomes]
rs72681134	1.00[ASN][1000 genomes]
rs72681136	1.00[ASN][1000 genomes]
rs72681138	1.00[ASN][1000 genomes]
rs7843178	1.00[JPT][hapmap]
rs7845877	0.88[EUR][1000 genomes]
rs9650000	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9650001	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9650002	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9773443	1.00[JPT][hapmap]

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	nsv1020359	chr8:103109921-103318415	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1033829	chr8:103110057-103525696	Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv1021459	chr8:103163436-103401754	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers 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 miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv539701	chr8:103163436-103401754	Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv1025935	chr8:103199207-103468322	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
6	nsv1018990	chr8:103207922-103357742	Genic enhancers Strong transcription Flanking Active TSS Weak transcription Enhancers 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 miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv539702	chr8:103207922-103357742	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers 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 target site	19 gene(s)	inside rSNPs	diseases
8	nsv1028890	chr8:103207922-103401754	Weak transcription Genic enhancers Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
9	nsv528486	chr8:103279922-103373304	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs13278875	RIMS2	cis	cerebellum	SCAN
rs13278875	KCNS2	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103252200-103318800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr8:103256000-103299000	Strong transcription	Primary B cells from peripheral blood	blood
3	chr8:103256000-103299000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr8:103256000-103299600	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr8:103256200-103299600	Strong transcription	Primary monocytes fromperipheralblood	blood
6	chr8:103257400-103299400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
7	chr8:103262400-103299400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr8:103262600-103299600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr8:103262600-103329800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr8:103262800-103299600	Strong transcription	HSMM	muscle
11	chr8:103263000-103299000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr8:103263000-103299000	Strong transcription	Liver	Liver
13	chr8:103263000-103299000	Strong transcription	Fetal Thymus	thymus
14	chr8:103263200-103298800	Strong transcription	Duodenum Mucosa	Duodenum
15	chr8:103263400-103298200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr8:103263400-103299000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr8:103263400-103299000	Strong transcription	Dnd41	blood
18	chr8:103263400-103327800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr8:103263400-103327800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr8:103264000-103299000	Strong transcription	Primary T helper cells fromperipheralblood	blood
21	chr8:103264200-103299000	Strong transcription	Primary T cells fromperipheralblood	blood
22	chr8:103264800-103298800	Strong transcription	Primary T helper cells PMA-I stimulated	--
23	chr8:103266200-103299400	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr8:103266800-103329000	Strong transcription	HUES6 Cell Line	embryonic stem cell
25	chr8:103267400-103327800	Strong transcription	HUES48 Cell Line	embryonic stem cell
26	chr8:103267400-103329000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
27	chr8:103267600-103327800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
28	chr8:103268000-103327200	Strong transcription	H1 Cell Line	embryonic stem cell
29	chr8:103268200-103298400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr8:103268200-103327600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr8:103268200-103328000	Strong transcription	HUES64 Cell Line	embryonic stem cell
32	chr8:103268800-103308400	Strong transcription	Fetal Muscle Leg	muscle
33	chr8:103269400-103299200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr8:103275800-103299600	Strong transcription	Rectal Mucosa Donor 31	rectum
35	chr8:103281200-103299400	Strong transcription	Primary B cells from cord blood	blood
36	chr8:103282400-103299800	Weak transcription	Stomach Mucosa	stomach
37	chr8:103282600-103299600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr8:103284800-103299600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
39	chr8:103286000-103299600	Strong transcription	NHDF-Ad	bronchial
40	chr8:103286200-103300000	Strong transcription	HepG2	liver
41	chr8:103286400-103299400	Strong transcription	Adipose Nuclei	Adipose
42	chr8:103286400-103299600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr8:103286600-103299400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr8:103286600-103302000	Strong transcription	Primary neutrophils fromperipheralblood	blood
45	chr8:103287000-103298800	Strong transcription	Osteobl	bone
46	chr8:103287400-103299200	Strong transcription	Primary hematopoietic stem cells	blood
47	chr8:103287800-103302200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr8:103287800-103312800	Strong transcription	Cortex derived primary cultured neurospheres	brain
49	chr8:103288000-103299000	Strong transcription	Primary T cells from cord blood	blood
50	chr8:103290000-103298200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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