Variant report

Variant	rs16942128
Chromosome Location	chr17:45764235-45764236
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:75)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:75 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOS	chr17:45763689-45764664	HUVEC	blood vessel:	n/a	chr17:45764188-45764199
2	BCL3	chr17:45761066-45765975	A549	lung:	n/a	chr17:45762320-45762329 chr17:45761498-45761507
3	TEAD4	chr17:45764160-45764850	HepG2	liver:	n/a	n/a
4	JUND	chr17:45764104-45764252	HepG2	liver:	n/a	n/a
5	POLR2A	chr17:45763778-45764750	GM12878	blood:	n/a	n/a
6	POLR2A	chr17:45761123-45765686	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr17:45761016-45766013	HepG2	liver:	n/a	n/a
8	POLR2A	chr17:45764161-45764295	GM12878	blood:	n/a	n/a
9	MBD4	chr17:45764180-45764838	HepG2	liver:	n/a	n/a
10	POLR2A	chr17:45763735-45765619	MCF-7	breast:	n/a	n/a
11	POLR2A	chr17:45760728-45765897	A549	lung:	n/a	n/a
12	POLR2A	chr17:45760907-45765868	SK-N-SH	brain:	n/a	n/a
13	POLR2A	chr17:45760984-45765876	U87	brain:	n/a	n/a
14	CREB1	chr17:45764063-45764808	HepG2	liver:	n/a	n/a
15	CREB1	chr17:45764182-45764820	HepG2	liver:	n/a	n/a
16	POLR2A	chr17:45764095-45764332	K562	blood:	n/a	n/a
17	JUN	chr17:45764111-45764652	HepG2	liver:	n/a	n/a
18	POLR2A	chr17:45763805-45765611	GM12891	blood:	n/a	n/a
19	POLR2A	chr17:45760984-45765870	U87	brain:	n/a	n/a
20	POLR2A	chr17:45763842-45765946	HUVEC	blood vessel:	n/a	n/a
21	POLR2A	chr17:45764057-45765856	U87	brain:	n/a	n/a
22	POLR2A	chr17:45758952-45766470	PANC-1	pancreas:	n/a	n/a
23	POLR2A	chr17:45763798-45764564	Hela-S3	cervix:	n/a	n/a
24	MAFF	chr17:45764165-45764644	HepG2	liver:	n/a	n/a
25	JUN	chr17:45763967-45764445	HUVEC	blood vessel:	n/a	n/a
26	POLR2A	chr17:45764092-45765784	HCT-116	colon:	n/a	n/a
27	POLR2A	chr17:45763799-45764369	GM12878	blood:	n/a	n/a
28	POLR2A	chr17:45761050-45765590	HepG2	liver:	n/a	n/a
29	CEBPB	chr17:45763285-45764435	IMR90	lung:	n/a	chr17:45763751-45763762
30	CEBPB	chr17:45763592-45764728	HepG2	liver:	n/a	chr17:45763751-45763762
31	POLR2A	chr17:45763780-45764346	GM12892	blood:	n/a	n/a
32	POLR2A	chr17:45763522-45765856	U87	brain:	n/a	n/a
33	FOSL2	chr17:45763845-45764699	HepG2	liver:	n/a	n/a
34	POLR2A	chr17:45763991-45765810	HepG2	liver:	n/a	n/a
35	POLR2A	chr17:45762680-45764943	SK-N-SH	brain:	n/a	n/a
36	POLR2A	chr17:45761025-45765803	GM12891	blood:	n/a	n/a
37	POLR2A	chr17:45763813-45764711	HUVEC	blood vessel:	n/a	n/a
38	POLR2A	chr17:45763812-45764708	HepG2	liver:	n/a	n/a
39	FOSL2	chr17:45763857-45764776	HepG2	liver:	n/a	n/a
40	POLR2A	chr17:45763831-45764340	GM12891	blood:	n/a	n/a
41	JUND	chr17:45764065-45764726	HepG2	liver:	n/a	n/a
42	NFATC1	chr17:45764045-45765713	GM12878	blood:	n/a	n/a
43	JUND	chr17:45764143-45765678	SK-N-SH	brain:	n/a	n/a
44	POLR2A	chr17:45760244-45765917	PFSK-1	brain:	n/a	n/a
45	POLR2A	chr17:45763805-45764325	GM12891	blood:	n/a	n/a
46	FOXA1	chr17:45764216-45764675	HepG2	liver:	n/a	n/a
47	STAT5A	chr17:45763972-45765772	GM12878	blood:	n/a	chr17:45764590-45764602
48	POLR2A	chr17:45760907-45765675	GM12892	blood:	n/a	n/a
49	GATA2	chr17:45763930-45764523	HUVEC	blood vessel:	n/a	n/a
50	MTA3	chr17:45764051-45765740	GM12878	blood:	n/a	n/a

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:45750704..45751981-chr17:45764009..45765030,12	MCF-7	breast:
2	chr17:45761397..45766819-chr17:45768713..45773362,9	K562	blood:
3	chr17:45764006..45765006-chr17:45774813..45775370,2	MCF-7	breast:
4	chr17:45751990..45755538-chr17:45760652..45765275,4	MCF-7	breast:
5	chr17:45758194..45759902-chr17:45762797..45765497,2	K562	blood:
6	chr17:45745574..45748775-chr17:45762933..45765883,3	K562	blood:
7	chr17:45752325..45755092-chr17:45763938..45765718,2	K562	blood:
8	chr17:45761680..45764235-chr17:45810358..45812226,2	MCF-7	breast:
9	chr17:45750858..45751981-chr17:45764122..45765029,9	MCF-7	breast:
10	chr17:45762090..45764390-chr17:45820597..45823079,2	K562	blood:
11	chr17:45749021..45751778-chr17:45762179..45764324,3	K562	blood:
12	chr17:45760258..45764544-chr17:45769222..45773538,5	MCF-7	breast:
13	chr17:45759177..45766275-chr17:45767435..45773662,12	K562	blood:
14	chr17:45750672..45751212-chr17:45764128..45764905,2	MCF-7	breast:
15	chr17:45763121..45767993-chr17:48940261..48944774,6	MCF-7	breast:
16	chr17:45763614..45766168-chr17:49023284..49025624,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000264558	TF binding region
ENSG00000073861	Chromatin interaction
ENSG00000108424	Chromatin interaction
ENSG00000198933	Chromatin interaction
ENSG00000229980	Chromatin interaction
ENSG00000141232	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1136613	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1136614	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16958421	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16969984	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2240017	0.81[JPT][hapmap]
rs56767960	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57517565	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59583855	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59866241	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59911216	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60014739	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61419652	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8071832	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9789082	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062983	chr17:45030095-45789543	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	esv1811231	chr17:45520374-45764956	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	esv1813964	chr17:45520374-45764956	Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	esv2758458	chr17:45520374-45764956	Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	esv2758693	chr17:45520374-45764956	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
6	nsv428344	chr17:45520374-45764956	Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
7	nsv498122	chr17:45763853-46064327	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs16942128	CD247	trans	brain	seeQTL

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45728800-45765600	Strong transcription	Fetal Muscle Trunk	muscle
2	chr17:45730400-45764800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr17:45730400-45765000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr17:45733200-45765000	Strong transcription	HMEC	breast
5	chr17:45738400-45765600	Strong transcription	Primary T cells from cord blood	blood
6	chr17:45742000-45764800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr17:45743000-45764600	Strong transcription	GM12878-XiMat	blood
8	chr17:45747800-45764400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
9	chr17:45748200-45764400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr17:45748200-45764400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr17:45752600-45765400	Strong transcription	Fetal Thymus	thymus
12	chr17:45753400-45765200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr17:45758200-45770200	Weak transcription	Fetal Heart	heart
14	chr17:45758200-45770600	Weak transcription	Fetal Brain Male	brain
15	chr17:45758400-45767400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr17:45759800-45767400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr17:45760000-45764400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr17:45760000-45765200	Weak transcription	Stomach Mucosa	stomach
19	chr17:45760000-45769400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr17:45760200-45764400	Weak transcription	Brain Angular Gyrus	brain
21	chr17:45760200-45764600	Weak transcription	Brain Cingulate Gyrus	brain
22	chr17:45760200-45764800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr17:45760200-45769600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr17:45760200-45769600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr17:45760200-45770000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr17:45760200-45770000	Weak transcription	Rectal Smooth Muscle	rectum
27	chr17:45760200-45770200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr17:45760400-45764600	Weak transcription	Brain Hippocampus Middle	brain
29	chr17:45760400-45765000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr17:45760400-45765000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr17:45760400-45765200	Weak transcription	Ovary	ovary
32	chr17:45760400-45765200	Weak transcription	Spleen	Spleen
33	chr17:45760400-45766800	Weak transcription	Fetal Intestine Small	intestine
34	chr17:45760400-45768800	Weak transcription	Fetal Kidney	kidney
35	chr17:45760400-45769800	Weak transcription	Right Ventricle	heart
36	chr17:45760400-45770000	Weak transcription	Colonic Mucosa	Colon
37	chr17:45760400-45770000	Weak transcription	Pancreas	Pancrea
38	chr17:45760400-45770200	Weak transcription	Colon Smooth Muscle	Colon
39	chr17:45760400-45770400	Weak transcription	Gastric	stomach
40	chr17:45760400-45770400	Weak transcription	Hela-S3	cervix
41	chr17:45760600-45764400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr17:45761000-45765400	Strong transcription	Fetal Brain Female	brain
43	chr17:45761200-45770000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr17:45761400-45764800	Strong transcription	Primary B cells from cord blood	blood
45	chr17:45761400-45764800	Genic enhancers	HUVEC	blood vessel
46	chr17:45761400-45764800	Genic enhancers	Osteobl	bone
47	chr17:45761600-45765600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr17:45761600-45765800	Strong transcription	Brain Germinal Matrix	brain
49	chr17:45761600-45769800	Weak transcription	Esophagus	oesophagus
50	chr17:45762000-45769400	Weak transcription	Primary B cells from peripheral blood	blood

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