Variant report

Variant	rs11207326
Chromosome Location	chr1:59364615-59364616
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:93)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:93 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TRIM28	chr1:59364460-59365503	K562	blood:	n/a	n/a
2	MAZ	chr1:59364485-59365417	K562	blood:	n/a	n/a
3	ZNF143	chr1:59364501-59365330	K562	blood:	n/a	chr1:59364599-59364608
4	SP1	chr1:59364605-59365300	HepG2	liver:	n/a	n/a
5	CEBPD	chr1:59364565-59365454	K562	blood:	n/a	n/a
6	YY1	chr1:59364602-59364955	HepG2	liver:	n/a	n/a
7	FOXA1	chr1:59364588-59365371	HepG2	liver:	n/a	n/a
8	FOXA1	chr1:59364601-59365298	HepG2	liver:	n/a	n/a
9	CUX1	chr1:59364568-59365962	K562	blood:	n/a	n/a
10	ELF1	chr1:59364558-59364994	K562	blood:	n/a	n/a
11	POLR2A	chr1:59364523-59365433	K562	blood:	n/a	n/a
12	MAX	chr1:59364595-59365492	K562	blood:	n/a	n/a
13	STAT5A	chr1:59364513-59365446	K562	blood:	n/a	n/a
14	GATA1	chr1:59364412-59365541	PBDE	blood:	n/a	n/a
15	CREB1	chr1:59364306-59365458	K562	blood:	n/a	n/a
16	EP300	chr1:59364272-59365334	K562	blood:	n/a	chr1:59364686-59364695
17	SPI1	chr1:59364609-59365024	K562	blood:	n/a	n/a
18	TBL1XR1	chr1:59364578-59365747	K562	blood:	n/a	n/a
19	CCNT2	chr1:59364581-59365400	K562	blood:	n/a	n/a
20	POLR2A	chr1:59364592-59365274	K562	blood:	n/a	n/a
21	USF1	chr1:59364564-59365327	K562	blood:	n/a	chr1:59364863-59364874
22	SP1	chr1:59364568-59365195	K562	blood:	n/a	n/a
23	ELF1	chr1:59364565-59365398	K562	blood:	n/a	n/a
24	JUN	chr1:59364236-59365333	K562	blood:	n/a	chr1:59364470-59364484
25	GABPA	chr1:59364586-59365038	K562	blood:	n/a	n/a
26	TBL1XR1	chr1:59364613-59365494	K562	blood:	n/a	n/a
27	RAD21	chr1:59364605-59364947	H1-hESC	embryonic stem cell:	n/a	n/a
28	TEAD4	chr1:59364393-59365559	K562	blood:	n/a	n/a
29	MAX	chr1:59364425-59365420	K562	blood:	n/a	n/a
30	GATA2	chr1:59364606-59365362	K562	blood:	n/a	n/a
31	CEBPB	chr1:59364389-59365262	K562	blood:	n/a	chr1:59364579-59364590 chr1:59364578-59364591
32	MAX	chr1:59364581-59365659	NB4	blood:	n/a	n/a
33	EP300	chr1:59364610-59365282	HepG2	liver:	n/a	chr1:59364686-59364695
34	TEAD4	chr1:59364575-59365223	HepG2	liver:	n/a	n/a
35	MAFK	chr1:59364400-59365377	K562	blood:	n/a	n/a
36	JUN	chr1:59364562-59365265	K562	blood:	n/a	n/a
37	POLR2A	chr1:59364572-59364882	HepG2	liver:	n/a	n/a
38	EGR1	chr1:59364611-59365277	K562	blood:	n/a	n/a
39	RCOR1	chr1:59364341-59365547	K562	blood:	n/a	n/a
40	MYC	chr1:59364435-59365149	NB4	blood:	n/a	n/a
41	POLR2A	chr1:59364513-59365666	K562	blood:	n/a	n/a
42	MAFF	chr1:59364308-59365365	K562	blood:	n/a	n/a
43	CEBPD	chr1:59364414-59365475	K562	blood:	n/a	n/a
44	HEY1	chr1:59364560-59365159	K562	blood:	n/a	n/a
45	RCOR1	chr1:59364375-59365484	K562	blood:	n/a	n/a
46	TEAD4	chr1:59364359-59365638	K562	blood:	n/a	n/a
47	SMC3	chr1:59364534-59365141	HepG2	liver:	n/a	n/a
48	ELK1	chr1:59364478-59364943	K562	blood:	n/a	n/a
49	NR2F2	chr1:59364524-59365403	K562	blood:	n/a	n/a
50	RFX5	chr1:59364515-59364993	K562	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:59242448..59252747-chr1:59356992..59375072,48	K562	blood:
2	chr1:59363087..59366662-chr1:59367277..59371776,8	K562	blood:
3	chr1:59242448..59251438-chr1:59358057..59375559,39	K562	blood:
4	chr1:59316456..59319340-chr1:59363706..59366262,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000232453	TF binding region
ENSG00000231740	Chromatin interaction
ENSG00000234807	Chromatin interaction
ENSG00000177606	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10493253	1.00[CEU][hapmap];0.82[CHB][hapmap];0.95[JPT][hapmap];0.94[YRI][hapmap];0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10789072	0.86[JPT][hapmap]
rs11207319	0.81[JPT][hapmap]
rs11207321	0.87[JPT][hapmap]
rs11207322	0.86[JPT][hapmap]
rs11207323	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11207325	0.87[CEU][hapmap];0.86[JPT][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11207332	0.91[CEU][hapmap];0.81[JPT][hapmap];0.93[YRI][hapmap];0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12117564	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12142126	0.91[JPT][hapmap]
rs12409909	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1536159	0.87[CEU][hapmap];0.87[JPT][hapmap]
rs17118379	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17118404	0.88[YRI][hapmap]
rs17118446	0.86[YRI][hapmap]
rs2057596	0.80[CEU][hapmap];0.87[JPT][hapmap];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2953373	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs41287666	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6587841	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6658104	0.87[CEU][hapmap];0.87[JPT][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6661505	0.87[CEU][hapmap];0.86[JPT][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6664131	0.87[CEU][hapmap];0.82[JPT][hapmap];0.86[EUR][1000 genomes]
rs6681632	0.90[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6697107	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs74078024	0.86[EUR][1000 genomes]
rs927743	0.82[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005354	chr1:59283572-59535812	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv829959	chr1:59340330-59503085	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:59356200-59368600	Weak transcription	Esophagus	oesophagus
2	chr1:59358200-59367200	Enhancers	HUVEC	blood vessel
3	chr1:59358400-59368600	Enhancers	Rectal Mucosa Donor 31	rectum
4	chr1:59358600-59367000	Enhancers	Adipose Nuclei	Adipose
5	chr1:59358800-59365800	Enhancers	Lung	lung
6	chr1:59358800-59367000	Enhancers	Fetal Muscle Leg	muscle
7	chr1:59359000-59365800	Enhancers	Left Ventricle	heart
8	chr1:59359000-59366400	Enhancers	Primary hematopoietic stem cells	blood
9	chr1:59359000-59367000	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr1:59359000-59367200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr1:59359000-59368600	Enhancers	Fetal Intestine Small	intestine
12	chr1:59359000-59368800	Enhancers	Fetal Intestine Large	intestine
13	chr1:59359200-59366400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr1:59359600-59365600	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr1:59359600-59365600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr1:59360000-59367000	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr1:59360600-59365400	Enhancers	Spleen	Spleen
18	chr1:59360600-59366600	Enhancers	Colonic Mucosa	Colon
19	chr1:59360800-59364800	Enhancers	Right Atrium	heart
20	chr1:59360800-59365000	Enhancers	Fetal Heart	heart
21	chr1:59360800-59365000	Enhancers	Placenta	Placenta
22	chr1:59361000-59366600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr1:59361200-59367000	Enhancers	Ovary	ovary
24	chr1:59361200-59368800	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr1:59361600-59367000	Enhancers	Fetal Lung	lung
26	chr1:59361600-59368400	Weak transcription	GM12878-XiMat	blood
27	chr1:59361800-59364800	Weak transcription	Gastric	stomach
28	chr1:59361800-59368800	Weak transcription	HMEC	breast
29	chr1:59362000-59366000	Weak transcription	Osteobl	bone
30	chr1:59362200-59366600	Enhancers	Primary neutrophils fromperipheralblood	blood
31	chr1:59362400-59368600	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr1:59362400-59368600	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr1:59362400-59368800	Weak transcription	Primary T helper cells fromperipheralblood	blood
34	chr1:59362400-59369000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr1:59362600-59364800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr1:59362600-59368600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr1:59362600-59368800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr1:59362600-59368800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr1:59362800-59364800	Weak transcription	A549	lung
40	chr1:59362800-59367800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr1:59362800-59367800	Weak transcription	Fetal Thymus	thymus
42	chr1:59362800-59368600	Weak transcription	Primary B cells from peripheral blood	blood
43	chr1:59362800-59368600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr1:59362800-59368800	Weak transcription	NH-A	brain
45	chr1:59362800-59368800	Weak transcription	NHEK	skin
46	chr1:59362800-59369000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr1:59362800-59369000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr1:59363000-59365800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr1:59363000-59366000	Weak transcription	NHDF-Ad	bronchial
50	chr1:59363000-59366200	Weak transcription	NHLF	lung

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