Variant report

Variant	rs2018318
Chromosome Location	chr1:175115567-175115568
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:175115119..175117020-chr1:175119706..175122509,2	K562	blood:
2	chr1:174999715..175000287-chr1:175115510..175116172,2	MCF-7	breast:
3	chr1:175115502..175116290-chr1:175190557..175191448,3	MCF-7	breast:
4	chr1:175115501..175116143-chr1:175288535..175289144,2	K562	blood:
5	chr1:174998905..174999499-chr1:175115519..175116507,5	MCF-7	breast:

Extended variants
information (count: 16 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10489327	0.82[MEX][hapmap]
rs10489328	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1057285	0.83[MEX][hapmap]
rs12139941	0.82[MEX][hapmap]
rs16847872	0.82[MEX][hapmap]
rs1894708	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2187958	1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.91[MEX][hapmap];0.83[TSI][hapmap];0.96[ASN][1000 genomes]
rs2269655	0.82[MEX][hapmap]
rs2861157	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3737933	0.91[CEU][hapmap];0.83[GIH][hapmap];0.91[MEX][hapmap];0.85[EUR][1000 genomes]
rs4651335	0.84[ASN][1000 genomes]
rs6679268	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73032622	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv508648	chr1:175056387-175121913	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv522101	chr1:175109517-175151183	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv429924	chr1:175110480-175134314	Enhancers Bivalent/Poised TSS Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs2018318	KIAA0040	Cis_1M	lymphoblastoid	RTeQTL
rs2018318	MRPS14	cis	parietal	SCAN
rs2018318	CACYBP	cis	cerebellum	SCAN
rs2018318	CACYBP	cis	parietal	SCAN

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:175108000-175119800	Weak transcription	Adipose Nuclei	Adipose
2	chr1:175110200-175127400	Weak transcription	Left Ventricle	heart
3	chr1:175111400-175122600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr1:175111600-175115600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr1:175111600-175116000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr1:175111600-175119600	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr1:175111800-175115600	Weak transcription	Fetal Intestine Large	intestine
8	chr1:175112400-175115600	Weak transcription	Primary B cells from peripheral blood	blood
9	chr1:175112400-175115600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr1:175114800-175115600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr1:175114800-175115800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr1:175114800-175115800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr1:175114800-175115800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr1:175114800-175115800	Flanking Active TSS	Liver	Liver
15	chr1:175114800-175116400	Enhancers	HMEC	breast
16	chr1:175115000-175115800	Enhancers	NHEK	skin
17	chr1:175115000-175116200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr1:175115000-175116600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
19	chr1:175115000-175125000	Weak transcription	Right Atrium	heart
20	chr1:175115200-175116000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr1:175115200-175116000	Enhancers	Stomach Mucosa	stomach
22	chr1:175115200-175116400	Enhancers	H1 Cell Line	embryonic stem cell
23	chr1:175115200-175116400	Enhancers	Placenta	Placenta
24	chr1:175115200-175117600	Enhancers	Fetal Brain Male	brain
25	chr1:175115400-175115600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
26	chr1:175115400-175115600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr1:175115400-175115600	Enhancers	Pancreatic Islets	Pancreatic Islet
28	chr1:175115400-175115800	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
29	chr1:175115400-175116000	Enhancers	HepG2	liver
30	chr1:175115400-175116400	Enhancers	GM12878-XiMat	blood

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