Variant report

Variant	rs532612653
Chromosome Location	chr17:18085628-18085629
allele	-/AACAGCCATGGCA
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	MAX	chr17:18085562-18088680	NB4	blood:	n/a	chr17:18086307-18086316 chr17:18086746-18086755 chr17:18087462-18087472
2	MXI1	chr17:18085581-18092228	SK-N-SH	brain:	n/a	chr17:18086672-18086687 chr17:18088362-18088377
3	POLR2A	chr17:18085316-18087349	K562	blood:	n/a	n/a
4	POLR2A	chr17:18085387-18087616	U87	brain:	n/a	n/a
5	RCOR1	chr17:18085443-18087234	K562	blood:	n/a	n/a
6	POLR2A	chr17:18085171-18087601	HepG2	liver:	n/a	n/a
7	KAP1	chr17:18085280-18087212	U2OS	brain:	n/a	n/a
8	POLR2A	chr17:18085606-18088111	GM12878	blood:	n/a	n/a
9	POLR2A	chr17:18085536-18086003	U87	brain:	n/a	n/a
10	HCFC1	chr17:18085487-18088855	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr17:18085388-18087444	PBDE	blood:	n/a	n/a
12	MTA3	chr17:18085372-18088527	GM12878	blood:	n/a	n/a
13	POLR2A	chr17:18085614-18085731	MCF-7	breast:	n/a	n/a
14	ZNF263	chr17:18085466-18088545	HEK293-T-REx	kidney:	n/a	n/a
15	POLR2A	chr17:18085357-18085819	HepG2	liver:	n/a	n/a
16	GATA1	chr17:18085385-18087937	PBDE	blood:	n/a	n/a
17	POLR2A	chr17:18085599-18087441	HCT-116	colon:	n/a	n/a
18	POLR2A	chr17:18085540-18087567	K562	blood:	n/a	n/a
19	TCF12	chr17:18085472-18088621	A549	lung:	n/a	n/a
20	TBP	chr17:18085617-18087393	K562	blood:	n/a	n/a
21	POLR2A	chr17:18085509-18088813	GM12878	blood:	n/a	n/a
22	MXI1	chr17:18085395-18088498	GM12878	blood:	n/a	chr17:18088362-18088377 chr17:18086672-18086687
23	MTA3	chr17:18085341-18085795	GM12878	blood:	n/a	n/a
24	EBF1	chr17:18085489-18085738	GM12878	blood:	n/a	n/a
25	MYC	chr17:18085610-18087376	NB4	blood:	n/a	chr17:18086307-18086316 chr17:18086746-18086755
26	POLR2A	chr17:18085579-18085675	MCF-7	breast:	n/a	n/a
27	EBF1	chr17:18085469-18085819	GM12878	blood:	n/a	n/a
28	CHD1	chr17:18085568-18085914	GM12878	blood:	n/a	n/a
29	POLR2A	chr17:18085608-18088464	Hela-S3	cervix:	n/a	n/a
30	USF2	chr17:18085596-18085813	GM12878	blood:	n/a	n/a
31	MAZ	chr17:18085605-18085788	GM12878	blood:	n/a	n/a
32	POLR2A	chr17:18085534-18087601	ProgFib	skin:	n/a	n/a
33	POLR2A	chr17:18085568-18089598	IMR90	lung:	n/a	n/a
34	RCOR1	chr17:18085311-18088560	IMR90	lung:	n/a	n/a
35	KAP1	chr17:18085492-18087210	HEK293	kidney:	n/a	n/a
36	POLR2A	chr17:18085387-18087622	U87	brain:	n/a	n/a
37	SMARCC1	chr17:18085552-18087441	Hela-S3	cervix:	n/a	n/a
38	HEY1	chr17:18085606-18087499	HepG2	liver:	n/a	chr17:18086411-18086426 chr17:18087298-18087313
39	POLR2A	chr17:18085602-18085694	MCF-7	breast:	n/a	n/a
40	POLR2A	chr17:18085424-18087397	GM12878	blood:	n/a	n/a
41	POLR2A	chr17:18085502-18088337	Raji	blood:	n/a	n/a
42	MAX	chr17:18085452-18088622	A549	lung:	n/a	chr17:18086307-18086316 chr17:18086746-18086755 chr17:18087462-18087472
43	POLR2A	chr17:18085216-18087458	GM12891	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:18085249..18088032-chr17:18163903..18166046,2	MCF-7	breast:
2	chr17:18057350..18061680-chr17:18083813..18088656,8	K562	blood:
3	chr17:18057503..18062681-chr17:18084968..18089396,8	MCF-7	breast:
4	chr17:18085197..18089449-chr17:18160313..18164902,6	K562	blood:
5	chr17:18061742..18067292-chr17:18083221..18089651,7	K562	blood:
6	chr17:18085295..18087427-chr9:125026325..125027854,2	MCF-7	breast:
7	chr17:18085097..18087844-chr17:18150702..18152403,2	MCF-7	breast:
8	chr17:18063606..18070028-chr17:18081885..18087934,10	MCF-7	breast:

Variant related genes	Relation type
ALKBH5	TF binding region
ENSG00000119446	Chromatin interaction
ENSG00000177731	Chromatin interaction
ENSG00000091536	Chromatin interaction
ENSG00000148187	Chromatin interaction
ENSG00000177427	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531183	chr17:17571035-18205309	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
2	nsv916653	chr17:17651916-18454952	Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
3	nsv533142	chr17:17691726-18236686	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
4	nsv482491	chr17:17959577-18153920	Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv1061162	chr17:17978838-18259234	Flanking Active TSS Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
6	nsv492305	chr17:17980441-18424702	Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
7	nsv907770	chr17:18003845-18098018	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
8	nsv907771	chr17:18013560-18098018	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
9	nsv907772	chr17:18030524-18098018	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
10	nsv510702	chr17:18037676-18116801	Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
11	esv3411665	chr17:18085527-18089325	Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:18076000-18086000	Weak transcription	Ovary	ovary
2	chr17:18084400-18085800	Enhancers	Fetal Thymus	thymus
3	chr17:18084400-18086000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr17:18084400-18086000	Enhancers	Placenta Amnion	Placenta Amnion
5	chr17:18084600-18085800	Enhancers	HMEC	breast
6	chr17:18084800-18085800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr17:18084800-18085800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr17:18085000-18085800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr17:18085000-18085800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr17:18085000-18086000	Enhancers	Gastric	stomach
11	chr17:18085000-18086000	Flanking Active TSS	Dnd41	blood
12	chr17:18085000-18086000	Flanking Active TSS	K562	blood
13	chr17:18085200-18085800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr17:18085200-18085800	Enhancers	Primary hematopoietic stem cells	blood
15	chr17:18085200-18085800	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr17:18085200-18085800	Enhancers	Stomach Mucosa	stomach
17	chr17:18085200-18086000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
18	chr17:18085400-18085800	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr17:18085400-18085800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr17:18085400-18085800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr17:18085400-18085800	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr17:18085400-18085800	Enhancers	Primary B cells from cord blood	blood
23	chr17:18085400-18085800	Enhancers	Primary B cells from peripheral blood	blood
24	chr17:18085400-18085800	Enhancers	Primary T cells from cord blood	blood
25	chr17:18085400-18085800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chr17:18085400-18085800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
27	chr17:18085400-18085800	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr17:18085400-18085800	Enhancers	Brain Substantia Nigra	brain
29	chr17:18085400-18085800	Flanking Active TSS	Fetal Kidney	kidney
30	chr17:18085400-18085800	Enhancers	Sigmoid Colon	Sigmoid Colon
31	chr17:18085400-18086000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr17:18085400-18086000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr17:18085400-18086000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
34	chr17:18085400-18086000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr17:18085400-18086000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
36	chr17:18085400-18086000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
37	chr17:18085400-18086000	Enhancers	Fetal Heart	heart
38	chr17:18085400-18086000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
39	chr17:18085400-18086000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
40	chr17:18085400-18086000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
41	chr17:18085400-18086000	Flanking Active TSS	Stomach Smooth Muscle	stomach
42	chr17:18085400-18086000	Enhancers	Spleen	Spleen
43	chr17:18085400-18086000	Flanking Active TSS	A549	lung
44	chr17:18085400-18086000	Flanking Active TSS	GM12878-XiMat	blood
45	chr17:18085400-18086000	Flanking Active TSS	Hela-S3	cervix
46	chr17:18085400-18086000	Flanking Active TSS	HepG2	liver
47	chr17:18085400-18086000	Flanking Active TSS	Osteobl	bone
48	chr17:18085400-18086200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
49	chr17:18085400-18086200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
50	chr17:18085400-18086200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links