Variant report

Variant	rs2375696
Chromosome Location	chr8:55048363-55048364
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:55048148-55048511	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr8:55047213-55048541	Hela-S3	cervix:	n/a	n/a
3	MXI1	chr8:55046923-55048745	SK-N-SH	brain:	n/a	chr8:55047788-55047797 chr8:55047786-55047795 chr8:55047788-55047797
4	MXI1	chr8:55047000-55048652	IMR90	lung:	n/a	chr8:55047788-55047797 chr8:55047786-55047795 chr8:55047788-55047797
5	MAX	chr8:55047241-55048613	NB4	blood:	n/a	chr8:55047785-55047798 chr8:55048114-55048121 chr8:55047786-55047797 chr8:55047782-55047801 chr8:55047787-55047797 chr8:55047786-55047797 chr8:55047786-55047795 chr8:55047785-55047798 chr8:55047785-55047798 chr8:55047787-55047796 chr8:55047786-55047796 chr8:55047786-55047797 chr8:55047787-55047797 chr8:55047787-55047796 chr8:55047785-55047798 chr8:55048112-55048123 chr8:55047787-55047796 chr8:55047786-55047796
6	POLR2A	chr8:55047460-55048485	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr8:55047022-55048398	PANC-1	pancreas:	n/a	n/a
8	POLR2A	chr8:55046946-55048717	K562	blood:	n/a	n/a
9	MAX	chr8:55048236-55048473	K562	blood:	n/a	n/a
10	EGR1	chr8:55048268-55048478	K562	blood:	n/a	n/a
11	CEBPB	chr8:55047226-55048476	Hela-S3	cervix:	n/a	chr8:55047415-55047428 chr8:55047415-55047428
12	TBP	chr8:55047062-55048568	K562	blood:	n/a	n/a
13	POLR2A	chr8:55048299-55048624	HUVEC	blood vessel:	n/a	n/a
14	MYC	chr8:55046957-55048514	A549	lung:	n/a	chr8:55047785-55047798 chr8:55048114-55048121 chr8:55047786-55047797 chr8:55047782-55047801 chr8:55047787-55047797 chr8:55047786-55047797 chr8:55047786-55047795 chr8:55047785-55047798 chr8:55047785-55047798 chr8:55047787-55047796 chr8:55047786-55047796 chr8:55047786-55047797 chr8:55047787-55047797 chr8:55047787-55047796 chr8:55047785-55047798 chr8:55048112-55048123 chr8:55047787-55047796 chr8:55047786-55047796
15	MAX	chr8:55047230-55048669	Hela-S3	cervix:	n/a	chr8:55047785-55047798 chr8:55048114-55048121 chr8:55047786-55047797 chr8:55047782-55047801 chr8:55047787-55047797 chr8:55047786-55047797 chr8:55047786-55047795 chr8:55047785-55047798 chr8:55047785-55047798 chr8:55047787-55047796 chr8:55047786-55047796 chr8:55047786-55047797 chr8:55047787-55047797 chr8:55047787-55047796 chr8:55047785-55047798 chr8:55048112-55048123 chr8:55047787-55047796 chr8:55047786-55047796
16	POLR2A	chr8:55047417-55048644	Hela-S3	cervix:	n/a	n/a
17	POLR2A	chr8:55047487-55048396	MCF-7	breast:	n/a	n/a
18	POLR2A	chr8:55046948-55049384	MCF10A-Er-Src	breast:	n/a	n/a
19	POLR2A	chr8:55047084-55050513	K562	blood:	n/a	n/a
20	MYC	chr8:55047204-55048554	K562	blood:	n/a	chr8:55047785-55047798 chr8:55048114-55048121 chr8:55047786-55047797 chr8:55047782-55047801 chr8:55047787-55047797 chr8:55047786-55047797 chr8:55047786-55047795 chr8:55047785-55047798 chr8:55047785-55047798 chr8:55047787-55047796 chr8:55047786-55047796 chr8:55047786-55047797 chr8:55047787-55047797 chr8:55047787-55047796 chr8:55047785-55047798 chr8:55048112-55048123 chr8:55047787-55047796 chr8:55047786-55047796
21	POLR2A	chr8:55047009-55048615	HepG2	liver:	n/a	n/a
22	POLR2A	chr8:55046853-55049272	GM12891	blood:	n/a	n/a
23	POLR2A	chr8:55046839-55048699	SK-N-MC	brain:	n/a	n/a
24	MXI1	chr8:55047257-55048445	Hela-S3	cervix:	n/a	chr8:55047788-55047797 chr8:55047786-55047795 chr8:55047788-55047797
25	POLR2A	chr8:55048151-55048686	HUVEC	blood vessel:	n/a	n/a
26	GTF3C2	chr8:55047993-55048511	Hela-S3	cervix:	n/a	n/a
27	POLR2A	chr8:55047051-55048471	GM18505	blood:	n/a	n/a
28	POLR2A	chr8:55047477-55048594	IMR90	lung:	n/a	n/a
29	MYC	chr8:55046953-55048624	MCF10A-Er-Src	breast:	n/a	chr8:55047785-55047798 chr8:55048114-55048121 chr8:55047786-55047797 chr8:55047782-55047801 chr8:55047787-55047797 chr8:55047786-55047797 chr8:55047786-55047795 chr8:55047785-55047798 chr8:55047785-55047798 chr8:55047787-55047796 chr8:55047786-55047796 chr8:55047786-55047797 chr8:55047787-55047797 chr8:55047787-55047796 chr8:55047785-55047798 chr8:55048112-55048123 chr8:55047787-55047796 chr8:55047786-55047796
30	POLR2A	chr8:55047400-55048996	Hela-S3	cervix:	n/a	n/a
31	POLR2A	chr8:55047469-55048551	K562	blood:	n/a	n/a
32	POLR2A	chr8:55047092-55048461	K562	blood:	n/a	n/a
33	POLR2A	chr8:55047056-55048482	K562	blood:	n/a	n/a
34	FOXA2	chr8:55048303-55048538	HepG2	liver:	n/a	n/a
35	CHD1	chr8:55047079-55048365	GM12878	blood:	n/a	n/a
36	MAX	chr8:55047510-55048511	Hela-S3	cervix:	n/a	chr8:55047785-55047798 chr8:55048114-55048121 chr8:55047786-55047797 chr8:55047782-55047801 chr8:55047787-55047797 chr8:55047786-55047797 chr8:55047786-55047795 chr8:55047785-55047798 chr8:55047785-55047798 chr8:55047787-55047796 chr8:55047786-55047796 chr8:55047786-55047797 chr8:55047787-55047797 chr8:55047787-55047796 chr8:55047785-55047798 chr8:55048112-55048123 chr8:55047787-55047796 chr8:55047786-55047796
37	POLR2A	chr8:55047085-55048369	GM19193	blood:	n/a	n/a
38	EGR1	chr8:55048242-55048517	K562	blood:	n/a	n/a
39	POLR2A	chr8:55046856-55049193	GM12878	blood:	n/a	n/a
40	TAF1	chr8:55047394-55048522	H1-hESC	embryonic stem cell:	n/a	n/a
41	POLR2A	chr8:55047028-55050378	MCF10A-Er-Src	breast:	n/a	n/a
42	HCFC1	chr8:55047296-55048648	Hela-S3	cervix:	n/a	n/a
43	MAZ	chr8:55048230-55048497	K562	blood:	n/a	n/a
44	ZNF384	chr8:55047221-55048428	K562	blood:	n/a	n/a
45	POLR2A	chr8:55047034-55049117	K562	blood:	n/a	n/a
46	POLR2A	chr8:55047063-55048552	K562	blood:	n/a	n/a
47	TBP	chr8:55047324-55048499	H1-hESC	embryonic stem cell:	n/a	n/a
48	MYC	chr8:55047083-55048585	K562	blood:	n/a	chr8:55047785-55047798 chr8:55048114-55048121 chr8:55047786-55047797 chr8:55047782-55047801 chr8:55047787-55047797 chr8:55047786-55047797 chr8:55047786-55047795 chr8:55047785-55047798 chr8:55047785-55047798 chr8:55047787-55047796 chr8:55047786-55047796 chr8:55047786-55047797 chr8:55047787-55047797 chr8:55047787-55047796 chr8:55047785-55047798 chr8:55048112-55048123 chr8:55047787-55047796 chr8:55047786-55047796
49	MYC	chr8:55046943-55048561	K562	blood:	n/a	chr8:55047785-55047798 chr8:55048114-55048121 chr8:55047786-55047797 chr8:55047782-55047801 chr8:55047787-55047797 chr8:55047786-55047797 chr8:55047786-55047795 chr8:55047785-55047798 chr8:55047785-55047798 chr8:55047787-55047796 chr8:55047786-55047796 chr8:55047786-55047797 chr8:55047787-55047797 chr8:55047787-55047796 chr8:55047785-55047798 chr8:55048112-55048123 chr8:55047787-55047796 chr8:55047786-55047796
50	POLR2A	chr8:55047012-55048369	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:54933199..54936694-chr8:55047814..55049965,3	K562	blood:
2	chr8:54792772..54795313-chr8:55047110..55049629,2	MCF-7	breast:
3	chr8:55013205..55015046-chr8:55046385..55049225,2	MCF-7	breast:
4	chr8:54932312..54937718-chr8:55045869..55049283,5	MCF-7	breast:
5	chr8:55046961..55051250-chr8:55057827..55066628,8	K562	blood:
6	chr8:55012759..55014929-chr8:55046340..55050101,4	K562	blood:
7	chr8:54933199..54936650-chr8:55046856..55051256,7	K562	blood:
8	chr8:55012569..55016203-chr8:55046168..55049938,7	MCF-7	breast:

Variant related genes	Relation type
MRPL15	TF binding region
ENSG00000147509	Chromatin interaction
ENSG00000187735	Chromatin interaction
ENSG00000251835	Chromatin interaction
ENSG00000120992	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10216491	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1039926	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10504161	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10958396	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10958397	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11984645	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11984672	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11991952	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11993959	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11994629	0.90[EUR][1000 genomes]
rs11996128	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12114043	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12114739	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12674895	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12679103	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12679542	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13276927	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13277185	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16919782	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16919784	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1828835	0.90[EUR][1000 genomes]
rs2008122	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2271567	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2292589	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2292590	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28573859	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34168614	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34997387	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4737479	0.90[EUR][1000 genomes]
rs4737485	0.90[EUR][1000 genomes]
rs4737486	0.90[EUR][1000 genomes]
rs4738678	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs58387069	0.90[EUR][1000 genomes]
rs58948369	0.88[EUR][1000 genomes]
rs61213253	0.80[EUR][1000 genomes]
rs61477279	0.81[EUR][1000 genomes]
rs6473911	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6473913	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6473914	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6473915	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7012031	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs71517558	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72614667	0.90[EUR][1000 genomes]
rs72614668	0.91[EUR][1000 genomes]
rs72614670	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72614671	0.83[EUR][1000 genomes]
rs7830051	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7842911	0.82[EUR][1000 genomes]
rs952194	0.89[EUR][1000 genomes]
rs981638	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023983	chr8:54790309-55145770	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv539623	chr8:54790309-55145770	Bivalent Enhancer Genic enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1026869	chr8:54989732-55089360	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
4	nsv890923	chr8:54994759-55049255	Active TSS Genic enhancers Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
5	nsv890924	chr8:54994759-55052148	Active TSS Genic enhancers Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
6	nsv890925	chr8:55005489-55052148	Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2375696	MRPL15	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:55046800-55048800	Active TSS	K562	blood
2	chr8:55047000-55048400	Active TSS	Duodenum Mucosa	Duodenum
3	chr8:55047000-55048600	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr8:55047000-55048800	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr8:55047000-55048800	Active TSS	iPS-20b Cell Line	embryonic stem cell
6	chr8:55047000-55048800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
7	chr8:55047000-55049000	Active TSS	Psoas Muscle	Psoas
8	chr8:55047200-55048400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr8:55047200-55048400	Active TSS	Pancreas	Pancrea
10	chr8:55047200-55048600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
11	chr8:55047200-55048600	Active TSS	H9 Cell Line	embryonic stem cell
12	chr8:55047200-55048600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
13	chr8:55047200-55048600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr8:55047200-55048600	Active TSS	Brain Substantia Nigra	brain
15	chr8:55047200-55048600	Active TSS	Colonic Mucosa	Colon
16	chr8:55047200-55048600	Active TSS	Sigmoid Colon	Sigmoid Colon
17	chr8:55047200-55048600	Active TSS	HSMMtube	muscle
18	chr8:55047200-55048800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr8:55047200-55048800	Active TSS	HUES64 Cell Line	embryonic stem cell
20	chr8:55047200-55048800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr8:55047200-55048800	Active TSS	Rectal Mucosa Donor 31	rectum
22	chr8:55047200-55049000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr8:55047200-55049000	Flanking Active TSS	Primary B cells from cord blood	blood
24	chr8:55047200-55049000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr8:55047400-55048400	Active TSS	Primary hematopoietic stem cells	blood
26	chr8:55047400-55048400	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
27	chr8:55047400-55048400	Active TSS	Liver	Liver
28	chr8:55047400-55048400	Active TSS	Brain Anterior Caudate	brain
29	chr8:55047400-55048400	Active TSS	Brain Cingulate Gyrus	brain
30	chr8:55047400-55048400	Active TSS	Brain Inferior Temporal Lobe	brain
31	chr8:55047400-55048400	Active TSS	Esophagus	oesophagus
32	chr8:55047400-55048400	Active TSS	Fetal Intestine Small	intestine
33	chr8:55047400-55048400	Active TSS	Lung	lung
34	chr8:55047400-55048400	Active TSS	HepG2	liver
35	chr8:55047400-55048600	Active TSS	iPS-15b Cell Line	embryonic stem cell
36	chr8:55047400-55048600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr8:55047400-55048600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr8:55047400-55048600	Active TSS	Aorta	Aorta
39	chr8:55047400-55048600	Active TSS	Brain Angular Gyrus	brain
40	chr8:55047400-55048600	Active TSS	Brain Hippocampus Middle	brain
41	chr8:55047400-55048600	Active TSS	Colon Smooth Muscle	Colon
42	chr8:55047400-55048600	Active TSS	Fetal Intestine Large	intestine
43	chr8:55047400-55048600	Active TSS	Fetal Muscle Trunk	muscle
44	chr8:55047400-55048600	Active TSS	Fetal Stomach	stomach
45	chr8:55047400-55048600	Active TSS	Left Ventricle	heart
46	chr8:55047400-55048600	Active TSS	Ovary	ovary
47	chr8:55047400-55048600	Active TSS	Stomach Mucosa	stomach
48	chr8:55047400-55048800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr8:55047400-55048800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr8:55047400-55048800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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