Variant report

Variant	rs10919175
Chromosome Location	chr1:169452749-169452750
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:56)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:56 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TBP	chr1:169452707-169453173	K562	blood:	n/a	n/a
2	MAFK	chr1:169452659-169453059	HepG2	liver:	n/a	chr1:169452800-169452815
3	RFX5	chr1:169452660-169453550	Hela-S3	cervix:	n/a	chr1:169452824-169452833
4	POLR2A	chr1:169452718-169453174	K562	blood:	n/a	n/a
5	FOXA1	chr1:169452644-169453231	HepG2	liver:	n/a	n/a
6	USF1	chr1:169452613-169453275	K562	blood:	n/a	n/a
7	MXI1	chr1:169452691-169453459	HepG2	liver:	n/a	n/a
8	MXI1	chr1:169452742-169453593	Hela-S3	cervix:	n/a	n/a
9	MAFK	chr1:169452707-169452986	HepG2	liver:	n/a	chr1:169452800-169452815
10	POLR2A	chr1:169452374-169456758	MCF10A-Er-Src	breast:	n/a	n/a
11	CEBPB	chr1:169452668-169456351	Hela-S3	cervix:	n/a	n/a
12	EP300	chr1:169452368-169453399	K562	blood:	n/a	chr1:169452398-169452412
13	MAFF	chr1:169452704-169453211	HepG2	liver:	n/a	n/a
14	MYC	chr1:169452672-169453483	K562	blood:	n/a	n/a
15	USF2	chr1:169452737-169453452	Hela-S3	cervix:	n/a	chr1:169452942-169452953
16	CREB1	chr1:169452739-169453168	HepG2	liver:	n/a	n/a
17	POLR2A	chr1:169452665-169453713	HepG2	liver:	n/a	n/a
18	RFX5	chr1:169452738-169452948	K562	blood:	n/a	chr1:169452824-169452833
19	MAX	chr1:169452679-169453253	K562	blood:	n/a	n/a
20	MYC	chr1:169452634-169454733	MCF10A-Er-Src	breast:	n/a	n/a
21	TBL1XR1	chr1:169452606-169453618	K562	blood:	n/a	n/a
22	SIN3AK20	chr1:169452581-169456049	MCF-7	breast:	n/a	n/a
23	POLR2A	chr1:169451934-169453706	K562	blood:	n/a	n/a
24	POLR2A	chr1:169452556-169453875	H1-hESC	embryonic stem cell:	n/a	n/a
25	EP300	chr1:169452674-169453006	HepG2	liver:	n/a	n/a
26	MYC	chr1:169452677-169453536	K562	blood:	n/a	n/a
27	FOXA1	chr1:169452662-169453095	HepG2	liver:	n/a	n/a
28	MYBL2	chr1:169452674-169453270	HepG2	liver:	n/a	n/a
29	CEBPB	chr1:169452713-169453113	MCF-7	breast:	n/a	n/a
30	EP300	chr1:169452738-169453132	K562	blood:	n/a	n/a
31	MAFK	chr1:169452353-169453173	K562	blood:	n/a	chr1:169452800-169452815
32	CEBPB	chr1:169452677-169452948	A549	lung:	n/a	n/a
33	NFYB	chr1:169452604-169453046	Hela-S3	cervix:	n/a	n/a
34	MAX	chr1:169452726-169453215	K562	blood:	n/a	n/a
35	CBX3	chr1:169452686-169453680	K562	blood:	n/a	n/a
36	BHLHE40	chr1:169452733-169453159	K562	blood:	n/a	n/a
37	POLR2A	chr1:169452526-169456603	MCF10A-Er-Src	breast:	n/a	n/a
38	CEBPB	chr1:169452712-169452982	K562	blood:	n/a	n/a
39	CEBPB	chr1:169452633-169453066	HepG2	liver:	n/a	n/a
40	CEBPB	chr1:169452624-169452991	IMR90	lung:	n/a	n/a
41	POLR2A	chr1:169451926-169456727	IMR90	lung:	n/a	n/a
42	MAX	chr1:169452723-169453525	K562	blood:	n/a	n/a
43	HCFC1	chr1:169452490-169456441	Hela-S3	cervix:	n/a	n/a
44	CREB1	chr1:169452648-169453312	HepG2	liver:	n/a	n/a
45	CHD1	chr1:169452645-169456936	IMR90	lung:	n/a	chr1:169453020-169453027 chr1:169455009-169455019 chr1:169454476-169454486
46	ZC3H11A	chr1:169452663-169453225	K562	blood:	n/a	n/a
47	HEY1	chr1:169452737-169453239	HepG2	liver:	n/a	n/a
48	MAFF	chr1:169452678-169453094	K562	blood:	n/a	n/a
49	USF1	chr1:169452728-169453102	H1-hESC	embryonic stem cell:	n/a	n/a
50	MYC	chr1:169452672-169453381	K562	blood:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:169451858..169456935-chr1:169476541..169486862,15	MCF-7	breast:
2	chr1:169428536..169430863-chr1:169451257..169453654,2	K562	blood:
3	chr1:169337822..169339719-chr1:169451874..169454199,3	K562	blood:
4	chr1:169449894..169459462-chr1:169475885..169501963,75	MCF-7	breast:
5	chr1:169338121..169342264-chr1:169451874..169455112,4	K562	blood:
6	chr1:169437031..169439523-chr1:169451162..169453352,3	MCF-7	breast:
7	chr1:169452217..169454597-chr1:169772651..169775174,2	K562	blood:
8	chr1:169434019..169436756-chr1:169452207..169454585,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000213062	TF binding region
ENSG00000198734	Chromatin interaction
ENSG00000234437	Chromatin interaction
ENSG00000117477	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11589952	0.80[YRI][hapmap]
rs12408451	0.84[JPT][hapmap]
rs2056926	0.84[JPT][hapmap]

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	esv10418	chr1:169059628-169621268	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv831871	chr1:169320673-169486680	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv1001454	chr1:169387381-169465274	Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv1005941	chr1:169410486-169456393	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10919175	NME7	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169430000-169452800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr1:169430000-169452800	Weak transcription	Brain Germinal Matrix	brain
3	chr1:169430000-169452800	Weak transcription	HMEC	breast
4	chr1:169430000-169452800	Weak transcription	NHDF-Ad	bronchial
5	chr1:169430000-169452800	Weak transcription	NHEK	skin
6	chr1:169430000-169453400	Weak transcription	Colonic Mucosa	Colon
7	chr1:169430000-169453800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr1:169430000-169454000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr1:169430000-169454400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr1:169430000-169454400	Weak transcription	Spleen	Spleen
11	chr1:169430200-169453200	Weak transcription	Esophagus	oesophagus
12	chr1:169430600-169452800	Weak transcription	Small Intestine	intestine
13	chr1:169435200-169452800	Weak transcription	Fetal Kidney	kidney
14	chr1:169437400-169452800	Weak transcription	Aorta	Aorta
15	chr1:169437400-169452800	Weak transcription	Rectal Smooth Muscle	rectum
16	chr1:169438600-169453200	Weak transcription	Fetal Lung	lung
17	chr1:169443000-169452800	Weak transcription	A549	lung
18	chr1:169443800-169452800	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr1:169444200-169454000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr1:169444600-169452800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr1:169446600-169453000	Weak transcription	Colon Smooth Muscle	Colon
22	chr1:169446800-169452800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr1:169446800-169452800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr1:169446800-169452800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr1:169446800-169452800	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr1:169446800-169453000	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr1:169446800-169453000	Weak transcription	Fetal Thymus	thymus
28	chr1:169446800-169454200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr1:169446800-169454200	Weak transcription	Fetal Muscle Trunk	muscle
30	chr1:169447000-169452800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr1:169447000-169452800	Weak transcription	Gastric	stomach
32	chr1:169447000-169452800	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr1:169448000-169457000	Active TSS	Right Ventricle	heart
34	chr1:169448200-169452800	Weak transcription	Pancreas	Pancrea
35	chr1:169448200-169452800	Weak transcription	Monocytes-CD14+_RO01746	blood
36	chr1:169448200-169453000	Weak transcription	Lung	lung
37	chr1:169449000-169453600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr1:169449800-169452800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr1:169450000-169456000	Active TSS	Psoas Muscle	Psoas
40	chr1:169451000-169453800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
41	chr1:169451000-169454000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr1:169451600-169452800	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr1:169451600-169453600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr1:169451600-169457000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr1:169451800-169452800	Active TSS	HUES6 Cell Line	embryonic stem cell
46	chr1:169451800-169452800	Enhancers	Brain Substantia Nigra	brain
47	chr1:169451800-169453800	Active TSS	Skeletal Muscle Male	skeletal muscle
48	chr1:169451800-169455400	Active TSS	Skeletal Muscle Female	skeletal muscle
49	chr1:169452000-169452800	Enhancers	Brain Cingulate Gyrus	brain
50	chr1:169452000-169452800	Enhancers	Brain Inferior Temporal Lobe	brain

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