Variant report

Variant	rs34645221
Chromosome Location	chr14:24785092-24785093
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:54)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:54 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr14:24784902-24785740	HepG2	liver:	n/a	n/a
2	POLR2A	chr14:24784629-24786256	K562	blood:	n/a	n/a
3	MYBL2	chr14:24784620-24785787	HepG2	liver:	n/a	n/a
4	MAX	chr14:24785062-24786148	K562	blood:	n/a	n/a
5	POLR2A	chr14:24785039-24785228	MCF-7	breast:	n/a	n/a
6	POLR2A	chr14:24784890-24785561	Hela-S3	cervix:	n/a	n/a
7	MYC	chr14:24785031-24786116	K562	blood:	n/a	n/a
8	RCOR1	chr14:24785092-24785225	K562	blood:	n/a	n/a
9	CTCF	chr14:24785061-24785670	HepG2	liver:	n/a	n/a
10	MAZ	chr14:24785073-24785180	K562	blood:	n/a	n/a
11	RAD21	chr14:24785001-24785712	HepG2	liver:	n/a	n/a
12	HDAC2	chr14:24784410-24785830	HepG2	liver:	n/a	n/a
13	ELF1	chr14:24784178-24785717	HepG2	liver:	n/a	n/a
14	POLR2A	chr14:24783084-24787822	K562	blood:	n/a	n/a
15	POLR2A	chr14:24785079-24785699	K562	blood:	n/a	n/a
16	MYC	chr14:24785047-24786206	K562	blood:	n/a	n/a
17	NFIC	chr14:24784077-24785639	HepG2	liver:	n/a	n/a
18	BHLHE40	chr14:24784770-24785588	HepG2	liver:	n/a	n/a
19	MBD4	chr14:24784289-24785769	HepG2	liver:	n/a	n/a
20	CCNT2	chr14:24785060-24785896	K562	blood:	n/a	n/a
21	RCOR1	chr14:24784888-24785713	K562	blood:	n/a	n/a
22	UBTF	chr14:24785029-24785981	K562	blood:	n/a	n/a
23	POLR2A	chr14:24783908-24785153	A549	lung:	n/a	n/a
24	MAX	chr14:24783670-24786314	HepG2	liver:	n/a	chr14:24783975-24783984 chr14:24784464-24784474
25	MYBL2	chr14:24784072-24785898	HepG2	liver:	n/a	n/a
26	POLR2A	chr14:24782915-24785629	HepG2	liver:	n/a	n/a
27	TBP	chr14:24785063-24785498	K562	blood:	n/a	n/a
28	MAX	chr14:24784950-24786254	K562	blood:	n/a	n/a
29	NR2F2	chr14:24785057-24785682	K562	blood:	n/a	n/a
30	ELF1	chr14:24784891-24785624	K562	blood:	n/a	n/a
31	POLR2A	chr14:24784369-24785405	HepG2	liver:	n/a	n/a
32	POLR2A	chr14:24784901-24786259	K562	blood:	n/a	n/a
33	POLR2A	chr14:24784620-24785501	HepG2	liver:	n/a	n/a
34	POLR2A	chr14:24785069-24785469	K562	blood:	n/a	n/a
35	POLR2A	chr14:24784739-24785779	MCF-7	breast:	n/a	n/a
36	RFX5	chr14:24784839-24785375	HepG2	liver:	n/a	chr14:24784953-24784968
37	POLR2A	chr14:24783024-24785575	SK-N-MC	brain:	n/a	n/a
38	REST	chr14:24784549-24785803	HepG2	liver:	n/a	chr14:24784736-24784749 chr14:24784736-24784756
39	JUND	chr14:24785025-24785685	K562	blood:	n/a	n/a
40	USF2	chr14:24784999-24785682	HepG2	liver:	n/a	n/a
41	CEBPB	chr14:24785033-24785161	K562	blood:	n/a	n/a
42	MXI1	chr14:24784871-24785710	HepG2	liver:	n/a	n/a
43	NFIC	chr14:24784296-24785628	HepG2	liver:	n/a	n/a
44	MAFF	chr14:24784875-24785320	HepG2	liver:	n/a	chr14:24785146-24785164
45	POLR2A	chr14:24785000-24786797	HUVEC	blood vessel:	n/a	n/a
46	MBD4	chr14:24784003-24785808	HepG2	liver:	n/a	n/a
47	POLR2A	chr14:24784544-24786242	HL-60	blood:	n/a	n/a
48	HMGN3	chr14:24785071-24785977	K562	blood:	n/a	n/a
49	POLR2A	chr14:24781910-24785823	HepG2	liver:	n/a	n/a
50	YY1	chr14:24784583-24785915	HepG2	liver:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:24654479..24657858-chr14:24783212..24786979,3	K562	blood:
2	chr14:24767097..24775014-chr14:24779936..24787049,14	MCF-7	breast:
3	chr14:24781177..24783367-chr14:24784569..24786396,2	K562	blood:
4	chr14:24781460..24810019-chr14:24892340..24914262,110	MCF-7	breast:
5	chr14:24710493..24713129-chr14:24782481..24785147,3	K562	blood:
6	chr14:24784144..24786069-chr14:24899565..24901293,2	K562	blood:
7	chr14:24784156..24786411-chr14:24902043..24903972,2	MCF-7	breast:

No data

Variant related genes	Relation type
CIDEB	TF binding region
ENSG00000100441	Chromatin interaction
ENSG00000196497	Chromatin interaction
ENSG00000157379	Chromatin interaction
ENSG00000213906	Chromatin interaction
ENSG00000139899	Chromatin interaction
ENSG00000196943	Chromatin interaction
ENSG00000100445	Chromatin interaction
ENSG00000213903	Chromatin interaction
ENSG00000092330	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs41293830	1.00[AMR][1000 genomes]
rs4982896	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041336	chr14:24726564-25527319	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv542000	chr14:24726564-25527319	Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv901499	chr14:24765622-24787588	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	n/a
4	nsv901500	chr14:24765622-24793762	Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	n/a
5	nsv564058	chr14:24771285-24786976	Flanking Active TSS Strong transcription Active TSS Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	n/a
6	nsv901501	chr14:24771285-24793762	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	n/a
7	nsv564059	chr14:24776401-24796813	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
8	nsv564060	chr14:24776401-24809795	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:24775600-24785800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr14:24776200-24786200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr14:24776400-24785800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr14:24778600-24785200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
5	chr14:24779600-24785400	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr14:24781000-24785200	Enhancers	Spleen	Spleen
7	chr14:24781000-24785400	Weak transcription	Ovary	ovary
8	chr14:24781200-24785200	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr14:24781200-24785600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
10	chr14:24781200-24787200	Enhancers	HUVEC	blood vessel
11	chr14:24781400-24785200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr14:24781400-24786200	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr14:24781400-24786200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr14:24781400-24786800	Enhancers	Lung	lung
15	chr14:24781600-24785600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr14:24781600-24786000	Weak transcription	NHDF-Ad	bronchial
17	chr14:24781800-24785200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr14:24781800-24787600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr14:24782000-24785200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr14:24782200-24785400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr14:24782400-24786800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr14:24782600-24786400	Weak transcription	HSMMtube	muscle
23	chr14:24782800-24785400	Enhancers	Primary T cells fromperipheralblood	blood
24	chr14:24782800-24786000	Weak transcription	Hela-S3	cervix
25	chr14:24783000-24785800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr14:24783200-24786200	Enhancers	Right Ventricle	heart
27	chr14:24783200-24786400	Enhancers	Esophagus	oesophagus
28	chr14:24783200-24788000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr14:24783600-24785200	Enhancers	Primary T killer memory cells from peripheral blood	blood
30	chr14:24783800-24786200	Enhancers	Left Ventricle	heart
31	chr14:24783800-24786400	Bivalent Enhancer	Fetal Muscle Leg	muscle
32	chr14:24783800-24786400	Weak transcription	A549	lung
33	chr14:24784000-24785200	Weak transcription	Gastric	stomach
34	chr14:24784000-24786000	Weak transcription	Small Intestine	intestine
35	chr14:24784000-24786200	Enhancers	Sigmoid Colon	Sigmoid Colon
36	chr14:24784000-24787600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr14:24784200-24785400	Bivalent Enhancer	Fetal Intestine Small	intestine
38	chr14:24784200-24786000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr14:24784200-24786200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
40	chr14:24784400-24785200	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
41	chr14:24784400-24785400	Weak transcription	HMEC	breast
42	chr14:24784400-24786200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr14:24784400-24786200	Weak transcription	Liver	Liver
44	chr14:24784400-24787000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
45	chr14:24784600-24785200	Enhancers	Primary hematopoietic stem cells	blood
46	chr14:24784600-24785400	Enhancers	Fetal Thymus	thymus
47	chr14:24784600-24785400	Enhancers	Stomach Mucosa	stomach
48	chr14:24784600-24785800	Flanking Bivalent TSS/Enh	HepG2	liver
49	chr14:24784600-24786200	Enhancers	NHEK	skin
50	chr14:24784600-24787200	Weak transcription	Primary T cells from cord blood	blood

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