Variant report

Variant	rs2232831
Chromosome Location	chr17:17400049-17400050
allele	A/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	chr17:17398390-17400436	IMR90	lung:	n/a	n/a
2	ELF1	chr17:17400029-17400480	GM12878	blood:	n/a	chr17:17400332-17400344 chr17:17400450-17400462
3	CTCF	chr17:17399723-17401178	A549	lung:	n/a	chr17:17400289-17400310 chr17:17400287-17400305 chr17:17400290-17400303 chr17:17400288-17400304 chr17:17400300-17400313
4	CTCF	chr17:17399337-17400838	SK-N-SH	brain:	n/a	chr17:17400289-17400310 chr17:17400287-17400305 chr17:17400290-17400303 chr17:17400288-17400304 chr17:17400300-17400313
5	MAX	chr17:17399132-17400555	A549	lung:	n/a	n/a
6	FOSL2	chr17:17399838-17400370	A549	lung:	n/a	n/a
7	POLR2A	chr17:17398207-17400620	H1-neurons	neurons:	n/a	n/a
8	CTCF	chr17:17399980-17400130	GM12872	blood:	n/a	n/a
9	RFX5	chr17:17399548-17400431	Hela-S3	cervix:	n/a	n/a
10	CREB1	chr17:17399371-17400059	A549	lung:	n/a	n/a
11	RAD21	chr17:17399235-17400823	SK-N-SH	brain:	n/a	chr17:17400293-17400303 chr17:17399877-17399887 chr17:17400293-17400305 chr17:17400291-17400304 chr17:17400288-17400307
12	CTCF	chr17:17400040-17400190	HFF	foreskin:	n/a	n/a
13	MAX	chr17:17399727-17400393	NB4	blood:	n/a	n/a
14	RAD21	chr17:17400000-17400596	MCF-7	breast:	n/a	chr17:17400293-17400303 chr17:17400293-17400305 chr17:17400291-17400304 chr17:17400288-17400307
15	CTCF	chr17:17399999-17400550	A549	lung:	n/a	chr17:17400289-17400310 chr17:17400287-17400305 chr17:17400290-17400303 chr17:17400288-17400304 chr17:17400300-17400313
16	POLR2A	chr17:17399194-17400496	A549	lung:	n/a	n/a
17	POLR2A	chr17:17399237-17400071	ECC-1	luminal epithelium:	n/a	n/a
18	CHD2	chr17:17399492-17400278	HepG2	liver:	n/a	chr17:17399802-17399812 chr17:17399880-17399890
19	POLR2A	chr17:17399452-17400052	A549	lung:	n/a	n/a
20	MAX	chr17:17398301-17400576	H1-hESC	embryonic stem cell:	n/a	n/a
21	UBTF	chr17:17399786-17400459	K562	blood:	n/a	n/a
22	HDAC2	chr17:17399806-17400525	MCF-7	breast:	n/a	chr17:17400278-17400287
23	MAX	chr17:17400048-17400454	K562	blood:	n/a	n/a
24	POLR2A	chr17:17397985-17400505	MCF-7	breast:	n/a	n/a
25	JUND	chr17:17399671-17400359	K562	blood:	n/a	chr17:17399800-17399809
26	POLR2A	chr17:17399220-17400545	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chr17:17399373-17400359	Hela-S3	cervix:	n/a	n/a
28	POLR2A	chr17:17399483-17400108	ECC-1	luminal epithelium:	n/a	n/a
29	RAD21	chr17:17399971-17400633	HCT-116	colon:	n/a	chr17:17400293-17400303 chr17:17400293-17400305 chr17:17400291-17400304 chr17:17400288-17400307
30	MAZ	chr17:17399288-17400963	IMR90	lung:	n/a	chr17:17400576-17400585 chr17:17400755-17400765
31	RAD21	chr17:17399832-17400691	ECC-1	luminal epithelium:	n/a	chr17:17400293-17400303 chr17:17399877-17399887 chr17:17400293-17400305 chr17:17400291-17400304 chr17:17400288-17400307
32	POLR2A	chr17:17398671-17400417	HepG2	liver:	n/a	n/a
33	RUNX3	chr17:17400045-17400444	GM12878	blood:	n/a	n/a
34	POLR2A	chr17:17399349-17400375	Hela-S3	cervix:	n/a	n/a
35	EGR1	chr17:17399625-17400058	MCF-7	breast:	n/a	chr17:17399803-17399816 chr17:17399800-17399813 chr17:17399804-17399814 chr17:17399719-17399729 chr17:17399868-17399881 chr17:17399803-17399816 chr17:17399800-17399814
36	ELF1	chr17:17399925-17400526	GM12878	blood:	n/a	chr17:17400332-17400344 chr17:17400450-17400462 chr17:17399940-17399952
37	CTCF	chr17:17399977-17400547	K562	blood:	n/a	chr17:17400289-17400310 chr17:17400287-17400305 chr17:17400290-17400303 chr17:17400288-17400304 chr17:17400300-17400313
38	CTCF	chr17:17399974-17400587	MCF-7	breast:	n/a	chr17:17400289-17400310 chr17:17400287-17400305 chr17:17400290-17400303 chr17:17400288-17400304 chr17:17400300-17400313
39	CREB1	chr17:17399197-17400540	HepG2	liver:	n/a	n/a
40	POLR2A	chr17:17399433-17400072	SK-N-SH	brain:	n/a	n/a
41	HMGN3	chr17:17399237-17400488	K562	blood:	n/a	n/a
42	TCF12	chr17:17399492-17400521	A549	lung:	n/a	n/a
43	ZBTB7A	chr17:17399645-17400436	ECC-1	luminal epithelium:	n/a	n/a
44	CTCF	chr17:17399921-17400580	HCT-116	colon:	n/a	chr17:17400289-17400310 chr17:17400287-17400305 chr17:17400290-17400303 chr17:17400288-17400304 chr17:17400300-17400313
45	CTCF	chr17:17400041-17400441	HepG2	liver:	n/a	chr17:17400289-17400310 chr17:17400287-17400305 chr17:17400290-17400303 chr17:17400288-17400304 chr17:17400300-17400313
46	CTCF	chr17:17400012-17400579	HCT-116	colon:	n/a	chr17:17400289-17400310 chr17:17400287-17400305 chr17:17400290-17400303 chr17:17400288-17400304 chr17:17400300-17400313
47	JUND	chr17:17399411-17400490	A549	lung:	n/a	chr17:17399800-17399809
48	POLR2A	chr17:17399276-17400175	PBDE	blood:	n/a	n/a
49	RAD21	chr17:17400047-17400568	A549	lung:	n/a	chr17:17400293-17400303 chr17:17400293-17400305 chr17:17400291-17400304 chr17:17400288-17400307
50	RAD21	chr17:17399498-17400514	IMR90	lung:	n/a	chr17:17400293-17400303 chr17:17399877-17399887 chr17:17400293-17400305 chr17:17400291-17400304 chr17:17400288-17400307

No.	Distal block	Cell Line	Cell type
1	chr17:17399759..17400695-chr17:17544845..17545554,2	K562	blood:
2	chr17:17398857..17400412-chr17:17494167..17496293,2	K562	blood:
3	chr17:17379236..17381999-chr17:17395224..17401626,6	MCF-7	breast:
4	chr17:17399330..17400214-chr6:31509455..31510221,2	Hela-S3	cervix:
5	chr17:17291335..17291987-chr17:17399782..17400706,3	MCF-7	breast:
6	chr17:17399769..17400801-chr17:17471936..17472657,4	MCF-7	breast:
7	chr17:17259051..17260073-chr17:17399842..17400699,3	MCF-7	breast:
8	chr17:17396995..17404908-chr17:17406815..17414609,13	MCF-7	breast:
9	chr17:17399866..17402763-chr17:17404179..17406127,2	MCF-7	breast:
10	chr17:17380261..17384039-chr17:17397347..17401058,7	MCF-7	breast:
11	chr17:17259111..17259919-chr17:17399843..17400794,5	MCF-7	breast:
12	chr17:17400013..17403525-chr17:17411408..17414122,3	MCF-7	breast:
13	chr17:17399780..17400738-chr17:17471636..17473808,15	MCF-7	breast:
14	chr17:17398348..17401153-chr17:17494060..17496594,3	MCF-7	breast:
15	chr17:17349182..17349868-chr17:17399782..17400771,2	MCF-7	breast:
16	chr17:17139597..17142266-chr17:17398056..17400275,2	MCF-7	breast:
17	chr17:17291141..17292010-chr17:17399819..17400387,2	MCF-7	breast:
18	chr17:17398240..17400896-chr17:17493826..17497836,5	MCF-7	breast:

Variant related genes	Relation type
RASD1	TF binding region
ENSG00000265511	Chromatin interaction
ENSG00000154803	Chromatin interaction
ENSG00000234006	Chromatin interaction
ENSG00000264187	Chromatin interaction
ENSG00000141026	Chromatin interaction
ENSG00000264666	Chromatin interaction
ENSG00000198563	Chromatin interaction
ENSG00000133027	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs11652200	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1242490	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1242493	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1242498	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1242499	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1242500	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1242501	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1242502	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1242503	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1242505	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1242506	0.85[ASN][1000 genomes]
rs1242511	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1242514	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1242515	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1242517	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1242518	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1263507	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1263509	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12938634	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1918249	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2660836	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2694920	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2694926	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2694927	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28435349	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4479310	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4646408	0.85[EUR][1000 genomes]
rs4646410	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4924868	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4924877	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4924890	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4924891	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs711352	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7219976	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7220132	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7220217	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7946	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs8074074	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8074191	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv482648	chr17:17315268-17455442	Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv907729	chr17:17338536-17425279	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer 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	21 gene(s)	inside rSNPs	diseases
3	nsv907730	chr17:17358004-17415217	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv907731	chr17:17358004-17504856	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	nsv907732	chr17:17381764-17415217	Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	nsv907733	chr17:17381764-17422608	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
7	nsv907734	chr17:17381764-17425858	Enhancers Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
8	nsv907735	chr17:17381764-17448589	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
9	nsv907736	chr17:17381764-17465458	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
10	nsv907737	chr17:17388167-17411030	Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17397200-17400400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
2	chr17:17397400-17400400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr17:17397400-17400400	Active TSS	Right Atrium	heart
4	chr17:17397600-17400400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr17:17397800-17400200	Active TSS	Psoas Muscle	Psoas
6	chr17:17397800-17400200	Active TSS	HSMMtube	muscle
7	chr17:17397800-17400200	Active TSS	NHDF-Ad	bronchial
8	chr17:17398000-17400400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
9	chr17:17398000-17400400	Active TSS	HSMM	muscle
10	chr17:17398000-17400800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr17:17398200-17400400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr17:17398200-17400800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr17:17398600-17400200	Flanking Active TSS	Primary B cells from cord blood	blood
14	chr17:17398600-17400200	Active TSS	Fetal Kidney	kidney
15	chr17:17398800-17400200	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
16	chr17:17398800-17400400	Active TSS	Right Ventricle	heart
17	chr17:17399000-17400200	Active TSS	Colon Smooth Muscle	Colon
18	chr17:17399000-17400200	Active TSS	Lung	lung
19	chr17:17399000-17400400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
20	chr17:17399000-17400400	Active TSS	Brain Angular Gyrus	brain
21	chr17:17399000-17400400	Active TSS	Brain Anterior Caudate	brain
22	chr17:17399000-17400400	Active TSS	Brain Inferior Temporal Lobe	brain
23	chr17:17399000-17400400	Active TSS	Brain Substantia Nigra	brain
24	chr17:17399000-17400400	Active TSS	Left Ventricle	heart
25	chr17:17399000-17400400	Active TSS	Ovary	ovary
26	chr17:17399000-17400400	Active TSS	Rectal Smooth Muscle	rectum
27	chr17:17399000-17400400	Active TSS	HepG2	liver
28	chr17:17399000-17400400	Active TSS	NHLF	lung
29	chr17:17399000-17400400	Active TSS	Osteobl	bone
30	chr17:17399000-17400600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr17:17399000-17400800	Active TSS	Fetal Brain Female	brain
32	chr17:17399200-17400200	Active TSS	Aorta	Aorta
33	chr17:17399200-17400400	Active TSS	Adipose Nuclei	Adipose
34	chr17:17399200-17400400	Active TSS	Duodenum Smooth Muscle	Duodenum
35	chr17:17399400-17400200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr17:17399400-17400200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
37	chr17:17399400-17400200	Active TSS	Pancreatic Islets	Pancreatic Islet
38	chr17:17399400-17400400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr17:17399400-17400400	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
40	chr17:17399400-17400400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr17:17399400-17400400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
42	chr17:17399400-17400400	Weak transcription	Fetal Heart	heart
43	chr17:17399400-17400400	Active TSS	A549	lung
44	chr17:17399400-17400400	Active TSS	Hela-S3	cervix
45	chr17:17399400-17400600	Active TSS	Primary T cells from cord blood	blood
46	chr17:17399400-17400800	Active TSS	H9 Cell Line	embryonic stem cell
47	chr17:17399400-17400800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr17:17399600-17400200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr17:17399600-17400200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr17:17399600-17400200	Active TSS	Primary T killer naive cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links