Variant report

Variant	rs12323571
Chromosome Location	chr14:105953204-105953205
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:20)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:20 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SP1	chr14:105953191-105953843	A549	lung:	n/a	n/a
2	POLR2A	chr14:105953143-105953811	PANC-1	pancreas:	n/a	n/a
3	SP1	chr14:105953186-105953727	A549	lung:	n/a	n/a
4	EBF1	chr14:105952632-105953676	GM12878	blood:	n/a	chr14:105952942-105952953
5	POLR2A	chr14:105953196-105954730	A549	lung:	n/a	n/a
6	POLR2A	chr14:105953194-105953998	A549	lung:	n/a	n/a
7	TCF12	chr14:105952993-105954681	A549	lung:	n/a	n/a
8	MAX	chr14:105953179-105954867	A549	lung:	n/a	n/a
9	ELF1	chr14:105952086-105954603	GM12878	blood:	n/a	n/a
10	POLR2A	chr14:105952842-105954795	HepG2	liver:	n/a	n/a
11	POLR2A	chr14:105953076-105954564	GM15510	blood:	n/a	n/a
12	ESRRA	chr14:105952633-105953386	GM12878	blood:	n/a	n/a
13	POLR2A	chr14:105953191-105954750	GM12878	blood:	n/a	n/a
14	POLR2A	chr14:105953120-105954351	GM18951	blood:	n/a	n/a
15	POLR2A	chr14:105953117-105960278	Hela-S3	cervix:	n/a	n/a
16	POLR2A	chr14:105953119-105958678	Hela-S3	cervix:	n/a	n/a
17	POLR2A	chr14:105953151-105960167	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr14:105953093-105954673	GM12878	blood:	n/a	n/a
19	MAZ	chr14:105952200-105954318	GM12878	blood:	n/a	n/a
20	POLR2A	chr14:105953192-105954715	SK-N-MC	brain:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:105950410..105961012-chr14:105989009..105997120,20	MCF-7	breast:
2	chr14:105878253..105887592-chr14:105952988..105961277,12	MCF-7	breast:
3	chr14:105952341..105954559-chr3:25726889..25729872,2	MCF-7	breast:
4	chr14:105953115..105953926-chr7:5569892..5570773,2	Hela-S3	cervix:
5	chr14:105950525..105959761-chr14:105989345..105997494,25	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000257341	TF binding region
CRIP1	TF binding region
C14orf80	TF binding region
ENSG00000184986	Chromatin interaction
ENSG00000075624	Chromatin interaction
ENSG00000182979	Chromatin interaction
ENSG00000238225	Chromatin interaction
ENSG00000251602	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10135326	0.85[AMR][1000 genomes]
rs10138891	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10143851	0.88[ASW][hapmap];0.81[MKK][hapmap]
rs11160845	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13707	0.93[AMR][1000 genomes]
rs4074000	0.83[YRI][hapmap]
rs4983412	0.93[AMR][1000 genomes]
rs4983414	0.82[YRI][hapmap];0.93[AMR][1000 genomes]
rs4983418	0.93[YRI][hapmap];0.93[AMR][1000 genomes]
rs4983419	0.93[AMR][1000 genomes]
rs4983422	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4983423	1.00[ASW][hapmap];0.98[LWK][hapmap];0.84[MKK][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7140395	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7158977	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7160858	0.82[AMR][1000 genomes]
rs73362069	1.00[AMR][1000 genomes]
rs7492892	0.93[AMR][1000 genomes]
rs7493450	0.93[AMR][1000 genomes]
rs7493964	0.83[ASW][hapmap];0.86[YRI][hapmap]
rs8005552	0.86[AMR][1000 genomes]
rs8012089	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530813	chr14:105607701-106453697	Strong transcription Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	149 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105946800-105955200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr14:105947000-105955200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr14:105947200-105953400	Enhancers	Placenta Amnion	Placenta Amnion
4	chr14:105947400-105953600	Enhancers	Lung	lung
5	chr14:105948000-105953400	Enhancers	Esophagus	oesophagus
6	chr14:105948000-105954200	Enhancers	Fetal Heart	heart
7	chr14:105948000-105954400	Enhancers	Spleen	Spleen
8	chr14:105948400-105953600	Enhancers	Primary B cells from cord blood	blood
9	chr14:105949000-105953600	Weak transcription	Ovary	ovary
10	chr14:105949600-105953600	Weak transcription	Dnd41	blood
11	chr14:105950600-105953400	Weak transcription	Small Intestine	intestine
12	chr14:105951400-105953400	Enhancers	Pancreas	Pancrea
13	chr14:105951600-105953600	Weak transcription	HSMM	muscle
14	chr14:105952000-105953600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
15	chr14:105952000-105955200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr14:105952200-105953800	Bivalent Enhancer	HUVEC	blood vessel
17	chr14:105952200-105953800	Bivalent Enhancer	NHEK	skin
18	chr14:105952200-105955400	Bivalent Enhancer	Fetal Brain Male	brain
19	chr14:105952200-105956800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
20	chr14:105952400-105953400	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
21	chr14:105952400-105953400	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
22	chr14:105952400-105953400	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
23	chr14:105952400-105953600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
24	chr14:105952400-105953600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
25	chr14:105952400-105953600	Bivalent Enhancer	Brain Cingulate Gyrus	brain
26	chr14:105952400-105953600	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
27	chr14:105952400-105953600	Enhancers	NHDF-Ad	bronchial
28	chr14:105952400-105953800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
29	chr14:105952400-105953800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
30	chr14:105952400-105954000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr14:105952400-105954200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
32	chr14:105952400-105954200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr14:105952400-105954200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr14:105952400-105954400	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
35	chr14:105952400-105954600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr14:105952400-105955000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
37	chr14:105952600-105953400	Flanking Active TSS	Primary B cells from peripheral blood	blood
38	chr14:105952600-105953400	Enhancers	Sigmoid Colon	Sigmoid Colon
39	chr14:105952600-105954000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
40	chr14:105952600-105954200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
41	chr14:105952600-105954200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
42	chr14:105952600-105954600	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr14:105952600-105955000	Weak transcription	K562	blood
44	chr14:105952600-105955200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
45	chr14:105952600-105956800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
46	chr14:105952600-105957200	Flanking Active TSS	Stomach Smooth Muscle	stomach
47	chr14:105952800-105953400	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
48	chr14:105952800-105953400	Flanking Active TSS	Primary T cells from cord blood	blood
49	chr14:105952800-105953400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
50	chr14:105952800-105953400	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine

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