Variant report

Variant	rs73985223
Chromosome Location	chr17:38021155-38021156
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	chr17:38019552-38022062	GM12891	blood:	n/a	n/a
2	ATF2	chr17:38021060-38022082	GM12878	blood:	n/a	n/a
3	STAT3	chr17:38020351-38021998	GM12878	blood:	n/a	n/a
4	RUNX3	chr17:38020895-38022090	GM12878	blood:	n/a	n/a
5	POLR2A	chr17:38019648-38022019	GM18505	blood:	n/a	n/a
6	POLR2A	chr17:38019769-38021967	GM18951	blood:	n/a	n/a
7	TBP	chr17:38021117-38022083	GM12878	blood:	n/a	n/a
8	TBL1XR1	chr17:38021127-38022028	GM12878	blood:	n/a	n/a
9	BCLAF1	chr17:38019864-38022044	GM12878	blood:	n/a	n/a
10	SPI1	chr17:38020970-38022287	GM12878	blood:	n/a	chr17:38021880-38021889 chr17:38021878-38021891
11	MEF2A	chr17:38021130-38022096	GM12878	blood:	n/a	chr17:38021801-38021815 chr17:38021851-38021865 chr17:38021803-38021814 chr17:38021240-38021255 chr17:38021799-38021820 chr17:38021846-38021867 chr17:38021799-38021820 chr17:38021801-38021816
12	IKZF1	chr17:38021063-38022068	GM12878	blood:	n/a	n/a
13	SPI1	chr17:38021027-38021635	HL-60	blood:	n/a	n/a
14	NFATC1	chr17:38021083-38022039	GM12878	blood:	n/a	n/a
15	POLR2A	chr17:38019684-38021913	GM19099	blood:	n/a	n/a
16	RELA	chr17:38019928-38021965	GM18526	blood:	n/a	n/a
17	EP300	chr17:38020253-38022082	GM12878	blood:	n/a	chr17:38021879-38021893 chr17:38020455-38020471 chr17:38020277-38020291 chr17:38021020-38021034 chr17:38020547-38020563
18	POLR2A	chr17:38020189-38021853	GM15510	blood:	n/a	n/a
19	TCF7L2	chr17:38020397-38021193	HEK293	kidney:	n/a	chr17:38020790-38020799
20	ATF2	chr17:38021011-38022016	GM12878	blood:	n/a	n/a
21	MEF2C	chr17:38021022-38022041	GM12878	blood:	n/a	chr17:38021801-38021815 chr17:38021851-38021865 chr17:38021803-38021814 chr17:38021240-38021255 chr17:38021799-38021820 chr17:38021089-38021100 chr17:38021846-38021867 chr17:38021799-38021820 chr17:38021102-38021119 chr17:38021801-38021816 chr17:38021090-38021099
22	SPI1	chr17:38021143-38021523	GM12878	blood:	n/a	n/a
23	POLR2A	chr17:38019860-38021965	GM19193	blood:	n/a	n/a
24	RELA	chr17:38021149-38022039	GM18951	blood:	n/a	n/a
25	BATF	chr17:38021134-38021514	GM12878	blood:	n/a	n/a
26	POLR2A	chr17:38019501-38022100	GM12878	blood:	n/a	n/a
27	POLR2A	chr17:38021088-38021810	GM12891	blood:	n/a	n/a
28	POLR2A	chr17:38021113-38021544	GM12891	blood:	n/a	n/a
29	POLR2A	chr17:38019545-38021836	GM12878	blood:	n/a	n/a
30	NFATC1	chr17:38021146-38022029	GM12878	blood:	n/a	n/a
31	GATA1	chr17:38019829-38021176	PBDE	blood:	n/a	n/a
32	NFIC	chr17:38019476-38022542	GM12878	blood:	n/a	n/a
33	STAT5A	chr17:38020977-38022006	GM12878	blood:	n/a	n/a
34	RCOR1	chr17:38021088-38021996	GM12878	blood:	n/a	n/a
35	POLR2A	chr17:38019554-38022098	GM12892	blood:	n/a	n/a
36	POLR2A	chr17:38019854-38021879	GM12892	blood:	n/a	n/a
37	POLR2A	chr17:38021049-38021692	GM12892	blood:	n/a	n/a
38	PML	chr17:38019701-38022084	GM12878	blood:	n/a	n/a
39	BCL11A	chr17:38021138-38021425	GM12878	blood:	n/a	n/a
40	MXI1	chr17:38019716-38021539	GM12878	blood:	n/a	n/a
41	MTA3	chr17:38020995-38022097	GM12878	blood:	n/a	n/a
42	NFIC	chr17:38020994-38022389	GM12878	blood:	n/a	n/a
43	RUNX3	chr17:38021115-38022013	GM12878	blood:	n/a	n/a
44	BCLAF1	chr17:38021114-38022005	GM12878	blood:	n/a	n/a
45	MTA3	chr17:38019486-38022031	GM12878	blood:	n/a	n/a
46	RELA	chr17:38019961-38022080	GM19099	blood:	n/a	n/a
47	POLR2A	chr17:38019853-38021155	GM12891	blood:	n/a	n/a
48	TAF1	chr17:38021135-38021527	GM12878	blood:	n/a	n/a
49	RELA	chr17:38019670-38022049	GM18505	blood:	n/a	n/a
50	STAT5A	chr17:38020917-38022091	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:38016485..38022109-chr17:38022345..38027890,7	K562	blood:

Variant related genes	Relation type
IKZF3	TF binding region
ZPBP2	TF binding region
ENSG00000186075	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1453558	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16965388	1.00[EUR][1000 genomes]
rs28623237	1.00[EUR][1000 genomes]
rs59246468	1.00[EUR][1000 genomes]
rs73985221	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73985222	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73985224	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73985226	1.00[EUR][1000 genomes]
rs73985227	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73985229	1.00[EUR][1000 genomes]
rs73985230	1.00[EUR][1000 genomes]
rs8071135	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064787	chr17:37892843-38054410	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	nsv543342	chr17:37892843-38054410	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	esv1795575	chr17:37974075-38041762	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38017800-38021400	Active TSS	Primary B cells from peripheral blood	blood
2	chr17:38017800-38021400	Active TSS	Primary T cells fromperipheralblood	blood
3	chr17:38017800-38021400	Active TSS	GM12878-XiMat	blood
4	chr17:38019600-38021200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
5	chr17:38019600-38021200	Active TSS	Thymus	Thymus
6	chr17:38020000-38021400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
7	chr17:38020200-38021200	Active TSS	Fetal Thymus	thymus
8	chr17:38020400-38021200	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
9	chr17:38020400-38021800	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
10	chr17:38020400-38022800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
11	chr17:38020600-38021200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
12	chr17:38020600-38024200	Weak transcription	Spleen	Spleen
13	chr17:38020800-38021200	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
14	chr17:38020800-38021400	Flanking Active TSS	Primary T cells from cord blood	blood
15	chr17:38020800-38021400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
16	chr17:38020800-38021400	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
17	chr17:38020800-38021600	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
18	chr17:38020800-38021600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr17:38020800-38021800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr17:38020800-38022000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
21	chr17:38020800-38022400	Flanking Active TSS	Primary B cells from cord blood	blood
22	chr17:38020800-38023600	Weak transcription	Esophagus	oesophagus
23	chr17:38020800-38023800	Weak transcription	Pancreas	Pancrea
24	chr17:38021000-38021200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
25	chr17:38021000-38021200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
26	chr17:38021000-38021200	Active TSS	Primary T helper cells fromperipheralblood	blood
27	chr17:38021000-38021200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr17:38021000-38021400	Bivalent Enhancer	Primary hematopoietic stem cells	blood
29	chr17:38021000-38021400	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
30	chr17:38021000-38021400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
31	chr17:38021000-38021400	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
32	chr17:38021000-38021600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
33	chr17:38021000-38021600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
34	chr17:38021000-38022000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
35	chr17:38021000-38024200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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