Variant report

Variant	rs36323
Chromosome Location	chr14:72398796-72398797
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	chr14:72398588-72399272	HCT-116	colon:	n/a	n/a
2	CTCF	chr14:72398611-72398825	GM12878	blood:	n/a	n/a
3	TCF12	chr14:72398757-72399290	H1-hESC	embryonic stem cell:	n/a	n/a
4	MAX	chr14:72398707-72399449	ECC-1	luminal epithelium:	n/a	chr14:72399021-72399028
5	RAD21	chr14:72398531-72399621	H1-hESC	embryonic stem cell:	n/a	n/a
6	MAX	chr14:72398522-72399656	H1-hESC	embryonic stem cell:	n/a	chr14:72399021-72399028
7	SMC3	chr14:72398477-72399300	GM12878	blood:	n/a	n/a
8	CTCF	chr14:72398603-72399332	MCF-7	breast:	n/a	chr14:72399007-72399020
9	E2F6	chr14:72398543-72399598	H1-hESC	embryonic stem cell:	n/a	chr14:72399109-72399119 chr14:72398963-72398973 chr14:72398995-72399004
10	CTCF	chr14:72398481-72399310	MCF-7	breast:	n/a	chr14:72399007-72399020
11	MXI1	chr14:72398564-72399229	H1-hESC	embryonic stem cell:	n/a	n/a
12	MAX	chr14:72398511-72399497	MCF-7	breast:	n/a	chr14:72399021-72399028
13	TCF12	chr14:72398780-72399282	H1-hESC	embryonic stem cell:	n/a	n/a
14	MAX	chr14:72398360-72399596	MCF-7	breast:	n/a	chr14:72399021-72399028
15	CTBP2	chr14:72398707-72399608	H1-hESC	embryonic stem cell:	n/a	n/a
16	CTCF	chr14:72398584-72399275	MCF-7	breast:	n/a	chr14:72399007-72399020
17	ZEB1	chr14:72398786-72399240	GM12878	blood:	n/a	chr14:72399060-72399072 chr14:72399063-72399072 chr14:72398948-72398955
18	POLR2A	chr14:72398585-72399524	MCF-7	breast:	n/a	n/a
19	CBX3	chr14:72398564-72399380	HCT-116	colon:	n/a	n/a
20	MAX	chr14:72398527-72399318	HCT-116	colon:	n/a	chr14:72399021-72399028
21	RAD21	chr14:72398454-72399353	HCT-116	colon:	n/a	n/a
22	CTCF	chr14:72398620-72399308	T-47D	breast:	n/a	chr14:72399007-72399020
23	RAD21	chr14:72398440-72399321	HCT-116	colon:	n/a	n/a
24	POLR2A	chr14:72398692-72399113	HCT-116	colon:	n/a	n/a
25	RAD21	chr14:72398575-72399525	H1-hESC	embryonic stem cell:	n/a	n/a
26	CTCF	chr14:72398590-72399269	GM19240	blood:	n/a	chr14:72399007-72399020
27	ZNF143	chr14:72398541-72399304	GM12878	blood:	n/a	chr14:72399109-72399119 chr14:72398831-72398841 chr14:72398963-72398973
28	RAD21	chr14:72398565-72399389	H1-hESC	embryonic stem cell:	n/a	n/a
29	ELF1	chr14:72398605-72399638	GM12878	blood:	n/a	chr14:72398963-72398975
30	CTCF	chr14:72398579-72398830	Medullo	brain:	n/a	n/a
31	ZEB1	chr14:72398560-72399600	GM12878	blood:	n/a	chr14:72399060-72399072 chr14:72399063-72399072 chr14:72398948-72398955
32	TBP	chr14:72398586-72399566	H1-hESC	embryonic stem cell:	n/a	n/a
33	POLR2A	chr14:72398791-72398799	MCF-7	breast:	n/a	n/a
34	RAD21	chr14:72398550-72399299	GM12878	blood:	n/a	n/a
35	CTCF	chr14:72398740-72398890	GM12873	blood:	n/a	n/a
36	CTCF	chr14:72398460-72399379	MCF-7	breast:	n/a	chr14:72399007-72399020
37	GABPA	chr14:72398720-72399551	H1-hESC	embryonic stem cell:	n/a	chr14:72398995-72399004 chr14:72399109-72399118 chr14:72398964-72398973
38	CTCF	chr14:72398487-72399319	GM12878	blood:	n/a	chr14:72399007-72399020
39	CTCF	chr14:72398610-72398800	MCF-7	breast:	n/a	n/a
40	JUND	chr14:72398551-72399267	H1-hESC	embryonic stem cell:	n/a	chr14:72398996-72399005
41	HA-E2F1	chr14:72398527-72400218	MCF-7	breast:	n/a	chr14:72399109-72399119 chr14:72398963-72398973 chr14:72398995-72399004
42	CTCF	chr14:72398776-72399314	H1-hESC	embryonic stem cell:	n/a	chr14:72399007-72399020
43	GATA3	chr14:72398764-72399201	T-47D	breast:	n/a	n/a
44	ZNF143	chr14:72398705-72399367	H1-hESC	embryonic stem cell:	n/a	chr14:72399109-72399119 chr14:72398831-72398841 chr14:72398963-72398973
45	CTCF	chr14:72398604-72399284	MCF-7	breast:	n/a	chr14:72399007-72399020
46	RUNX3	chr14:72398784-72399309	GM12878	blood:	n/a	n/a
47	MAX	chr14:72398406-72399447	HCT-116	colon:	n/a	chr14:72399021-72399028
48	TCF12	chr14:72398792-72399281	ECC-1	luminal epithelium:	n/a	n/a
49	MAX	chr14:72398569-72399263	H1-hESC	embryonic stem cell:	n/a	chr14:72399021-72399028
50	PML	chr14:72398671-72399150	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:72398495..72399195-chr14:72887196..72888373,4	MCF-7	breast:

Variant related genes	Relation type
RGS6	TF binding region
ENSG00000182732	Chromatin interaction

Extended variants
information (count: 76 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs1009018	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10873248	0.87[EUR][1000 genomes]
rs17768054	1.00[ASN][1000 genomes]
rs1978226	0.90[EUR][1000 genomes]
rs2109268	0.80[EUR][1000 genomes]
rs2190871	0.87[EUR][1000 genomes]
rs2190874	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2215133	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2877772	0.97[EUR][1000 genomes]
rs2877773	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36319	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36320	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36321	0.89[EUR][1000 genomes]
rs36322	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36324	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36325	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36328	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36329	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36330	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36331	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36333	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36334	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36337	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36338	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36339	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36342	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36343	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs36346	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36347	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36348	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36349	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36352	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36353	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36354	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36355	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36357	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs36358	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs36359	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36362	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36364	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36365	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36367	1.00[ASN][1000 genomes]
rs36371	1.00[ASN][1000 genomes]
rs36374	1.00[ASN][1000 genomes]
rs36400	1.00[ASN][1000 genomes]
rs36402	1.00[ASN][1000 genomes]
rs36407	1.00[ASN][1000 genomes]
rs36413	1.00[ASN][1000 genomes]
rs36414	1.00[ASN][1000 genomes]
rs4243639	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4598834	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4899406	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4899408	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902959	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902962	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902967	0.87[EUR][1000 genomes]
rs4902968	0.87[EUR][1000 genomes]
rs4902969	0.84[EUR][1000 genomes]
rs4902970	0.87[EUR][1000 genomes]
rs61996396	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6574036	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7161413	0.90[EUR][1000 genomes]
rs722975	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs728494	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs728495	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs728498	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs758236	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8004427	0.87[EUR][1000 genomes]
rs8011972	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8014500	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs917392	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9806063	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs991890	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	esv3398985	chr14:71927884-72404676	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv530794	chr14:72113818-73034008	Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
3	esv3425540	chr14:72397724-72400572	Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:72398000-72399600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
2	chr14:72398000-72400800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
3	chr14:72398200-72398800	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
4	chr14:72398200-72399000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
5	chr14:72398400-72398800	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
6	chr14:72398400-72398800	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
7	chr14:72398400-72399000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
8	chr14:72398400-72399400	Bivalent/Poised TSS	Primary T cells from cord blood	blood
9	chr14:72398400-72399400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
10	chr14:72398400-72399400	Bivalent/Poised TSS	Fetal Brain Female	brain
11	chr14:72398400-72399600	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
12	chr14:72398400-72399600	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
13	chr14:72398400-72399600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr14:72398400-72399600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
15	chr14:72398400-72400200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
16	chr14:72398400-72400200	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
17	chr14:72398400-72400200	Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr14:72398400-72400400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
19	chr14:72398400-72400400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
20	chr14:72398400-72400400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr14:72398400-72400400	Bivalent Enhancer	Liver	Liver
22	chr14:72398400-72401600	Active TSS	Right Atrium	heart
23	chr14:72398400-72401800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr14:72398600-72398800	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr14:72398600-72398800	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
26	chr14:72398600-72398800	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
27	chr14:72398600-72398800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr14:72398600-72398800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr14:72398600-72398800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr14:72398600-72398800	Flanking Active TSS	Brain Anterior Caudate	brain
31	chr14:72398600-72398800	Bivalent Enhancer	Colonic Mucosa	Colon
32	chr14:72398600-72398800	Flanking Active TSS	Colon Smooth Muscle	Colon
33	chr14:72398600-72398800	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
34	chr14:72398600-72398800	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
35	chr14:72398600-72398800	Enhancers	Gastric	stomach
36	chr14:72398600-72398800	Active TSS	Right Ventricle	heart
37	chr14:72398600-72398800	Bivalent Enhancer	Small Intestine	intestine
38	chr14:72398600-72398800	Flanking Bivalent TSS/Enh	Stomach Mucosa	stomach
39	chr14:72398600-72398800	Flanking Bivalent TSS/Enh	GM12878-XiMat	blood
40	chr14:72398600-72398800	Bivalent Enhancer	HMEC	breast
41	chr14:72398600-72398800	Flanking Bivalent TSS/Enh	NHEK	skin
42	chr14:72398600-72399000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr14:72398600-72399000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr14:72398600-72399000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
45	chr14:72398600-72399000	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
46	chr14:72398600-72399000	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
47	chr14:72398600-72399000	Flanking Bivalent TSS/Enh	Placenta	Placenta
48	chr14:72398600-72399000	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
49	chr14:72398600-72399000	Active TSS	Pancreas	Pancrea
50	chr14:72398600-72399000	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach

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