Variant report

Variant	rs11070278
Chromosome Location	chr15:40854703-40854704
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:40854296..40857804-chr15:40884735..40887632,3	K562	blood:

Variant related genes	Relation type
ENSG00000137812	Chromatin interaction

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

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

rs_ID	r²[population]
rs10444792	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10518696	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10851397	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11070276	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11632319	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11637275	0.81[AFR][1000 genomes]
rs12442697	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12916218	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1530942	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1530943	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16970734	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs16970854	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1869303	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1987795	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs2014367	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2034653	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2084941	0.83[EUR][1000 genomes]
rs2278887	0.94[ASN][1000 genomes]
rs2278889	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2290379	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2412528	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2412530	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2412533	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2924389	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2959535	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2959547	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3803354	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4467046	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4561439	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4923873	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4923877	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4923878	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4923879	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4924473	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4924474	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4924476	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4924482	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4924483	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57140606	0.90[EUR][1000 genomes]
rs57736474	0.89[EUR][1000 genomes]
rs582736	0.84[EUR][1000 genomes]
rs589650	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs607118	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs611933	0.85[EUR][1000 genomes]
rs617031	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs623187	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs624486	0.86[EUR][1000 genomes]
rs640919	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6492952	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6492953	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6492955	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs651131	0.82[EUR][1000 genomes]
rs667623	0.81[EUR][1000 genomes]
rs7163648	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7163889	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7164056	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7164166	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7164405	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7167239	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7167922	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7168913	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7168927	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7170073	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7170327	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7170946	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73396510	0.89[EUR][1000 genomes]
rs73396515	0.89[EUR][1000 genomes]
rs8024579	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8024802	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8029208	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8032453	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8033739	0.98[EUR][1000 genomes]
rs8034726	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs8038350	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8040187	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs8041816	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs8041991	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8043197	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs896797	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs921624	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9284288	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs976402	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9783737	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[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	esv34145	chr15:40549617-40889824	Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv832984	chr15:40794391-40998535	Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
3	esv2758378	chr15:40832545-40995111	Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	esv2760026	chr15:40832545-40995111	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats 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	44 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11070278	C15orf57	cis	Whole Blood	GTEx

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40821800-40856400	Weak transcription	Colon Smooth Muscle	Colon
2	chr15:40822600-40856400	Weak transcription	Small Intestine	intestine
3	chr15:40828000-40856600	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr15:40831600-40856600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr15:40838000-40856400	Weak transcription	A549	lung
6	chr15:40838600-40855600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr15:40840000-40856400	Weak transcription	Fetal Brain Female	brain
8	chr15:40840000-40856600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr15:40842400-40856200	Weak transcription	Colonic Mucosa	Colon
10	chr15:40843200-40856400	Weak transcription	Fetal Heart	heart
11	chr15:40843800-40856400	Weak transcription	HSMMtube	muscle
12	chr15:40846000-40855600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr15:40846200-40855000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr15:40846200-40856200	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr15:40846600-40855000	Weak transcription	Psoas Muscle	Psoas
16	chr15:40846600-40855800	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr15:40846600-40856400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr15:40846600-40856400	Weak transcription	Right Atrium	heart
19	chr15:40846600-40856600	Weak transcription	Aorta	Aorta
20	chr15:40846600-40856600	Weak transcription	Gastric	stomach
21	chr15:40846800-40856000	Weak transcription	Stomach Mucosa	stomach
22	chr15:40847200-40855000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr15:40847200-40855600	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr15:40847200-40856400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr15:40847400-40855000	Weak transcription	Fetal Brain Male	brain
26	chr15:40847400-40856200	Weak transcription	Brain Germinal Matrix	brain
27	chr15:40847400-40856400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr15:40847400-40856600	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr15:40848000-40856400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr15:40848000-40856400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr15:40848000-40856400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr15:40848000-40856400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr15:40848400-40856400	Weak transcription	NHDF-Ad	bronchial
34	chr15:40848600-40855000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr15:40848600-40855000	Weak transcription	Brain Anterior Caudate	brain
36	chr15:40848600-40855200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr15:40848600-40855800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr15:40848600-40856000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr15:40848600-40856200	Weak transcription	Brain Cingulate Gyrus	brain
40	chr15:40848600-40856200	Weak transcription	HSMM	muscle
41	chr15:40848600-40856200	Weak transcription	HUVEC	blood vessel
42	chr15:40848600-40856200	Weak transcription	NHLF	lung
43	chr15:40848600-40856400	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr15:40848600-40856400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr15:40848600-40856400	Weak transcription	Primary hematopoietic stem cells	blood
46	chr15:40848600-40856400	Weak transcription	Brain Substantia Nigra	brain
47	chr15:40848600-40856400	Weak transcription	NH-A	brain
48	chr15:40848800-40855200	Weak transcription	Duodenum Mucosa	Duodenum
49	chr15:40848800-40855600	Weak transcription	HepG2	liver
50	chr15:40848800-40856200	Weak transcription	Rectal Mucosa Donor 31	rectum

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