Variant report

Variant	rs60508956
Chromosome Location	chr14:82000945-82000946
allele	A/C
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	USF2	chr14:82000256-82001002	Hela-S3	cervix:	n/a	chr14:82000490-82000501
2	MXI1	chr14:81999480-82001197	Hela-S3	cervix:	n/a	n/a
3	HEY1	chr14:82000396-82001380	HepG2	liver:	n/a	n/a
4	MXI1	chr14:81999768-82001286	HepG2	liver:	n/a	n/a
5	TBP	chr14:81999935-82001215	HepG2	liver:	n/a	n/a
6	POLR2A	chr14:81999752-82001172	PBDE	blood:	n/a	n/a
7	BHLHE40	chr14:81999999-82001251	GM12878	blood:	n/a	n/a
8	STAT3	chr14:82000862-82001056	MCF10A-Er-Src	breast:	n/a	n/a
9	POLR2A	chr14:81999405-82001323	GM12891	blood:	n/a	n/a
10	ZNF143	chr14:81999979-82001101	H1-hESC	embryonic stem cell:	n/a	chr14:82000470-82000479 chr14:82000477-82000492 chr14:82000470-82000488 chr14:82000472-82000481 chr14:82000206-82000225 chr14:82000520-82000529
11	SMARCC2	chr14:81999987-82001214	Hela-S3	cervix:	n/a	chr14:82000470-82000479
12	POLR2A	chr14:82000513-82000963	HepG2	liver:	n/a	n/a
13	SREBP1	chr14:81999254-82000992	GM12878	blood:	n/a	n/a
14	MYBL2	chr14:81999977-82001289	HepG2	liver:	n/a	n/a
15	HEY1	chr14:82000660-82001215	HepG2	liver:	n/a	n/a
16	POLR2A	chr14:81999667-82001210	GM19099	blood:	n/a	n/a
17	POLR2A	chr14:81999895-82001352	HepG2	liver:	n/a	n/a
18	WRNIP1	chr14:82000231-82001346	GM12878	blood:	n/a	n/a
19	POLR2A	chr14:82000671-82001284	HepG2	liver:	n/a	n/a
20	MAX	chr14:82000871-82001419	HepG2	liver:	n/a	n/a
21	HCFC1	chr14:81999164-82001244	Hela-S3	cervix:	n/a	n/a
22	ARID3A	chr14:81999976-82001256	HepG2	liver:	n/a	n/a
23	MXI1	chr14:81999420-82001203	GM12878	blood:	n/a	n/a
24	NFYA	chr14:81999664-82001218	Hela-S3	cervix:	n/a	chr14:82000323-82000335 chr14:82000326-82000336 chr14:82000322-82000334
25	TBL1XR1	chr14:81999480-82001286	GM12878	blood:	n/a	n/a
26	MXI1	chr14:81998939-82001014	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:81998367..82001361-chr15:65596794..65598307,2	MCF-7	breast:

Variant related genes	Relation type
SEL1L	TF binding region
ENSG00000200156	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1951606	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1951607	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1951608	1.00[AMR][1000 genomes]
rs1957540	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59443544	1.00[AMR][1000 genomes]
rs59609515	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59619942	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60125402	1.00[AMR][1000 genomes]
rs60853415	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047694	chr14:81831147-82534026	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv542145	chr14:81831147-82534026	Weak transcription Active TSS Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv902120	chr14:81953242-82067555	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv565299	chr14:81983027-82586324	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	esv1803387	chr14:81995306-82009830	Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	esv1803430	chr14:81995306-82009830	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81998200-82001400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr14:81998800-82001000	Active TSS	K562	blood
3	chr14:81999000-82001000	Active TSS	NHLF	lung
4	chr14:81999200-82001000	Active TSS	Duodenum Mucosa	Duodenum
5	chr14:81999200-82001000	Active TSS	HepG2	liver
6	chr14:81999200-82001400	Active TSS	Rectal Mucosa Donor 29	rectum
7	chr14:81999600-82001000	Active TSS	HUES48 Cell Line	embryonic stem cell
8	chr14:81999600-82001000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr14:81999600-82001000	Active TSS	Liver	Liver
10	chr14:81999600-82001000	Active TSS	Brain Anterior Caudate	brain
11	chr14:81999600-82001000	Active TSS	Duodenum Smooth Muscle	Duodenum
12	chr14:81999600-82001000	Active TSS	HUVEC	blood vessel
13	chr14:81999600-82001200	Active TSS	Fetal Lung	lung
14	chr14:81999600-82001200	Active TSS	Rectal Smooth Muscle	rectum
15	chr14:81999800-82001200	Active TSS	Skeletal Muscle Male	skeletal muscle
16	chr14:82000200-82001000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr14:82000200-82001000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr14:82000200-82001000	Weak transcription	Colonic Mucosa	Colon
19	chr14:82000200-82001000	Weak transcription	Pancreas	Pancrea
20	chr14:82000200-82001000	Weak transcription	Right Atrium	heart
21	chr14:82000200-82001200	Weak transcription	Aorta	Aorta
22	chr14:82000200-82001200	Weak transcription	Small Intestine	intestine
23	chr14:82000200-82002200	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr14:82000200-82002800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr14:82000200-82003000	Weak transcription	Gastric	stomach
26	chr14:82000400-82001200	Enhancers	Primary T cells from cord blood	blood
27	chr14:82000400-82001200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
28	chr14:82000400-82002000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr14:82000400-82002800	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr14:82000400-82003000	Weak transcription	Ovary	ovary
31	chr14:82000600-82001000	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr14:82000600-82001000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
33	chr14:82000600-82001000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr14:82000600-82001000	Flanking Active TSS	Brain Substantia Nigra	brain
35	chr14:82000600-82001200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
36	chr14:82000600-82001200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
37	chr14:82000600-82001200	Flanking Active TSS	A549	lung
38	chr14:82000600-82001200	Flanking Active TSS	Dnd41	blood
39	chr14:82000600-82001400	Enhancers	Primary T helper naive cells from peripheral blood	blood
40	chr14:82000600-82001400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
41	chr14:82000600-82001600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
42	chr14:82000600-82002600	Enhancers	Primary B cells from peripheral blood	blood
43	chr14:82000600-82002600	Flanking Active TSS	GM12878-XiMat	blood
44	chr14:82000800-82001000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr14:82000800-82001000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr14:82000800-82001000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr14:82000800-82001000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
48	chr14:82000800-82001000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
49	chr14:82000800-82001000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr14:82000800-82001000	Flanking Active TSS	Brain Angular Gyrus	brain

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