Variant report

Variant	rs17023974
Chromosome Location	chr1:120107182-120107183
allele	A/G
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	SPI1	chr1:120106900-120108304	GM12878	blood:	n/a	chr1:120107293-120107306
2	SPI1	chr1:120107100-120107491	GM12891	blood:	n/a	chr1:120107293-120107306
3	BCL3	chr1:120107142-120107447	GM12878	blood:	n/a	chr1:120107299-120107308
4	SPI1	chr1:120107133-120107464	GM12878	blood:	n/a	chr1:120107293-120107306
5	SPI1	chr1:120107049-120107576	HL-60	blood:	n/a	chr1:120107293-120107306
6	SPI1	chr1:120107155-120107519	GM12891	blood:	n/a	chr1:120107293-120107306
7	ATF2	chr1:120107169-120107553	GM12878	blood:	n/a	n/a
8	SPI1	chr1:120107166-120107440	GM12878	blood:	n/a	chr1:120107293-120107306

Variant related genes	Relation type
GAPDHP27	TF binding region

Extended variants
information (count: 95 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10157474	1.00[EUR][1000 genomes]
rs10494226	1.00[EUR][1000 genomes]
rs12405653	1.00[EUR][1000 genomes]
rs12411048	1.00[EUR][1000 genomes]
rs13376069	1.00[EUR][1000 genomes]
rs17023666	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17023789	1.00[EUR][1000 genomes]
rs17023809	1.00[EUR][1000 genomes]
rs1856889	1.00[EUR][1000 genomes]
rs1977209	1.00[EUR][1000 genomes]
rs1998180	1.00[EUR][1000 genomes]
rs2208377	1.00[EUR][1000 genomes]
rs2208378	1.00[EUR][1000 genomes]
rs33937873	1.00[EUR][1000 genomes]
rs4258257	1.00[EUR][1000 genomes]
rs4567318	1.00[EUR][1000 genomes]
rs56119175	1.00[EUR][1000 genomes]
rs56188766	1.00[EUR][1000 genomes]
rs56673765	1.00[EUR][1000 genomes]
rs56850733	1.00[EUR][1000 genomes]
rs56913763	1.00[EUR][1000 genomes]
rs57052489	1.00[EUR][1000 genomes]
rs57583533	1.00[EUR][1000 genomes]
rs57803062	1.00[EUR][1000 genomes]
rs58233700	1.00[EUR][1000 genomes]
rs58428582	1.00[EUR][1000 genomes]
rs58575398	1.00[EUR][1000 genomes]
rs58689501	1.00[EUR][1000 genomes]
rs58933433	1.00[EUR][1000 genomes]
rs59375730	1.00[EUR][1000 genomes]
rs59727458	1.00[EUR][1000 genomes]
rs59885501	1.00[EUR][1000 genomes]
rs60438295	1.00[EUR][1000 genomes]
rs60498350	1.00[EUR][1000 genomes]
rs60502880	1.00[EUR][1000 genomes]
rs60876981	1.00[EUR][1000 genomes]
rs61080896	1.00[EUR][1000 genomes]
rs61332695	1.00[EUR][1000 genomes]
rs61528123	1.00[EUR][1000 genomes]
rs6200	1.00[EUR][1000 genomes]
rs6201	1.00[EUR][1000 genomes]
rs6202	1.00[EUR][1000 genomes]
rs6205	1.00[EUR][1000 genomes]
rs6661258	1.00[EUR][1000 genomes]
rs6663113	1.00[EUR][1000 genomes]
rs6670659	1.00[EUR][1000 genomes]
rs6670858	1.00[EUR][1000 genomes]
rs6674048	1.00[EUR][1000 genomes]
rs6674218	1.00[EUR][1000 genomes]
rs6676283	1.00[EUR][1000 genomes]
rs6685275	1.00[EUR][1000 genomes]
rs6691961	1.00[EUR][1000 genomes]
rs67392954	1.00[EUR][1000 genomes]
rs72561793	1.00[EUR][1000 genomes]
rs72986612	1.00[EUR][1000 genomes]
rs72986636	1.00[EUR][1000 genomes]
rs74114643	1.00[EUR][1000 genomes]
rs74114646	1.00[EUR][1000 genomes]
rs74114647	1.00[EUR][1000 genomes]
rs74114696	1.00[EUR][1000 genomes]
rs7519379	1.00[EUR][1000 genomes]
rs7535128	1.00[EUR][1000 genomes]
rs7535899	1.00[EUR][1000 genomes]
rs7542827	1.00[EUR][1000 genomes]
rs932603	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932014	chr1:119476480-120471049	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
2	nsv1000391	chr1:119837978-120287056	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv535077	chr1:119837978-120287056	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	nsv1004662	chr1:119847447-120154798	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	esv2763647	chr1:119929442-120154798	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv1000939	chr1:119983342-120471049	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
7	esv2757749	chr1:120016696-120214577	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
8	esv2758964	chr1:120016696-120214577	Enhancers ZNF genes & repeats Active TSS Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
9	esv5682	chr1:120072464-120135533	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv946186	chr1:120091427-120161787	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	nsv470734	chr1:120091433-120145883	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv520283	chr1:120091434-120126990	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	nsv818400	chr1:120091434-120126990	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
14	nsv872171	chr1:120093312-120126990	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
15	nsv872172	chr1:120093312-120131597	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
16	nsv872173	chr1:120093312-120137445	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
17	nsv1015031	chr1:120095922-120140011	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
18	nsv872174	chr1:120096458-120126990	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
19	esv2756860	chr1:120098661-120162442	Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
20	nsv1010835	chr1:120098719-120126990	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
21	nsv1011568	chr1:120098719-120129553	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
22	nsv1007488	chr1:120098719-120140011	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
23	nsv999314	chr1:120098719-120156465	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
24	nsv547616	chr1:120099044-120123642	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region lncRNA	2 gene(s)	inside rSNPs	diseases
25	nsv872175	chr1:120099980-120143753	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
26	nsv872176	chr1:120099980-120145883	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
27	nsv872177	chr1:120099980-120152082	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
28	esv2600511	chr1:120101844-120140670	Enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
29	esv3407721	chr1:120103335-120140798	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
30	esv14340	chr1:120104966-120113946	Weak transcription Enhancers Flanking Active TSS	TF binding region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:120092800-120116600	Weak transcription	Spleen	Spleen
2	chr1:120097200-120107400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:120097600-120107400	Weak transcription	Brain Hippocampus Middle	brain
4	chr1:120105000-120108000	Enhancers	Fetal Lung	lung
5	chr1:120105000-120108800	Enhancers	Fetal Intestine Large	intestine
6	chr1:120105200-120108600	Enhancers	Fetal Intestine Small	intestine
7	chr1:120106200-120107200	Enhancers	Monocytes-CD14+_RO01746	blood
8	chr1:120106200-120107400	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr1:120106600-120107400	Enhancers	GM12878-XiMat	blood
10	chr1:120106800-120107600	Weak transcription	Right Atrium	heart
11	chr1:120106800-120108600	Weak transcription	Ovary	ovary
12	chr1:120106800-120111600	Weak transcription	Lung	lung
13	chr1:120106800-120112400	Enhancers	Placenta	Placenta
14	chr1:120107000-120107400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr1:120107000-120107600	Enhancers	Primary hematopoietic stem cells	blood
16	chr1:120107000-120109200	Enhancers	Primary neutrophils fromperipheralblood	blood
17	chr1:120107000-120109200	Enhancers	Primary B cells from peripheral blood	blood

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