Variant report

Variant	rs61729313
Chromosome Location	chr14:77843920-77843921
allele	A/G
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	MXI1	chr14:77843015-77844144	IMR90	lung:	n/a	n/a
2	SIN3AK20	chr14:77843082-77843934	PANC-1	pancreas:	n/a	n/a
3	STAT5A	chr14:77843475-77844088	GM12878	blood:	n/a	n/a
4	SIN3A	chr14:77842832-77843985	GM12878	blood:	n/a	n/a
5	HCFC1	chr14:77842896-77844244	Hela-S3	cervix:	n/a	n/a
6	YY1	chr14:77843136-77844007	K562	blood:	n/a	chr14:77843155-77843166 chr14:77843402-77843416
7	YY1	chr14:77843522-77844015	GM12891	blood:	n/a	n/a
8	BHLHE40	chr14:77843895-77843939	K562	blood:	n/a	n/a
9	RCOR1	chr14:77843500-77844050	K562	blood:	n/a	n/a
10	GABPA	chr14:77843293-77843933	K562	blood:	n/a	n/a
11	GABPA	chr14:77843211-77844111	SK-N-SH	brain:	n/a	n/a
12	YY1	chr14:77843251-77844122	SK-N-SH	brain:	n/a	chr14:77843402-77843416
13	MAX	chr14:77843568-77843940	H1-hESC	embryonic stem cell:	n/a	n/a
14	ELF1	chr14:77842641-77843987	GM12878	blood:	n/a	chr14:77843232-77843244
15	CTCF	chr14:77843900-77844050	AG04449	skin:	n/a	n/a
16	MAX	chr14:77842360-77844251	MCF-7	breast:	n/a	n/a
17	SIN3AK20	chr14:77843107-77844266	MCF-7	breast:	n/a	n/a
18	MTA3	chr14:77843351-77844004	GM12878	blood:	n/a	n/a
19	E2F6	chr14:77843132-77844277	A549	lung:	n/a	n/a
20	ELF1	chr14:77843196-77844219	MCF-7	breast:	n/a	chr14:77843232-77843244
21	MAX	chr14:77843250-77844077	SK-N-SH	brain:	n/a	n/a
22	YY1	chr14:77843235-77843998	ECC-1	luminal epithelium:	n/a	chr14:77843402-77843416
23	ZNF143	chr14:77843527-77844009	K562	blood:	n/a	n/a
24	YY1	chr14:77842889-77844068	GM12878	blood:	n/a	chr14:77843155-77843166 chr14:77843402-77843416 chr14:77842893-77842902
25	YY1	chr14:77843105-77844018	GM12892	blood:	n/a	chr14:77843155-77843166 chr14:77843402-77843416
26	POLR2A	chr14:77842654-77844001	H1-neurons	neurons:	n/a	n/a
27	TCF7L2	chr14:77843339-77844101	PANC-1	pancreas:	n/a	n/a
28	MXI1	chr14:77843505-77843928	H1-hESC	embryonic stem cell:	n/a	n/a
29	MXI1	chr14:77842441-77843962	GM12878	blood:	n/a	n/a
30	POLR2A	chr14:77843009-77843939	SK-N-MC	brain:	n/a	n/a
31	POLR2A	chr14:77842987-77843939	ECC-1	luminal epithelium:	n/a	n/a
32	YY1	chr14:77843234-77844059	A549	lung:	n/a	chr14:77843402-77843416
33	PML	chr14:77843034-77844113	GM12878	blood:	n/a	n/a
34	YY1	chr14:77843149-77843982	SK-N-SH_RA	brain:	n/a	chr14:77843155-77843166 chr14:77843402-77843416
35	SIN3AK20	chr14:77843532-77843921	A549	lung:	n/a	n/a
36	PML	chr14:77843071-77843990	MCF-7	breast:	n/a	n/a
37	YY1	chr14:77843046-77843956	HepG2	liver:	n/a	chr14:77843155-77843166 chr14:77843402-77843416
38	GABPA	chr14:77843354-77843988	HL-60	blood:	n/a	n/a
39	RCOR1	chr14:77843250-77844041	Hela-S3	cervix:	n/a	n/a
40	YY1	chr14:77843528-77843953	GM12892	blood:	n/a	n/a
41	ELK4	chr14:77843362-77843993	Hela-S3	cervix:	n/a	n/a
42	TCF12	chr14:77843241-77844180	A549	lung:	n/a	n/a
43	HA-E2F1	chr14:77842914-77844010	MCF-7	breast:	n/a	n/a
44	YY1	chr14:77843173-77844038	ECC-1	luminal epithelium:	n/a	chr14:77843402-77843416
45	GABPA	chr14:77843172-77843971	K562	blood:	n/a	n/a
46	EBF1	chr14:77843587-77843941	GM12878	blood:	n/a	n/a
47	ELF1	chr14:77842815-77844404	MCF-7	breast:	n/a	chr14:77843232-77843244
48	GABPA	chr14:77843145-77844422	MCF-7	breast:	n/a	n/a
49	CCNT2	chr14:77842992-77843932	K562	blood:	n/a	n/a
50	MXI1	chr14:77841038-77844400	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:77786039..77790135-chr14:77842733..77846742,6	MCF-7	breast:
2	chr14:77841182..77844130-chr14:78173275..78175250,2	MCF-7	breast:
3	chr14:77842121..77845840-chr14:77923685..77925710,4	K562	blood:
4	chr14:77785710..77794377-chr14:77836948..77846491,26	MCF-7	breast:
5	chr14:77814415..77818794-chr14:77841444..77844447,3	MCF-7	breast:
6	chr14:77841945..77846770-chr14:77921022..77925977,11	MCF-7	breast:
7	chr14:77785581..77788460-chr14:77843501..77845400,3	K562	blood:
8	chr14:77766406..77773210-chr14:77841892..77846481,6	MCF-7	breast:

Variant related genes	Relation type
TMED8	TF binding region
ENSG00000266628	Chromatin interaction
ENSG00000151445	Chromatin interaction
ENSG00000100601	Chromatin interaction
ENSG00000100577	Chromatin interaction
ENSG00000119705	Chromatin interaction
ENSG00000009830	Chromatin interaction
ENSG00000100591	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1008669	1.00[AMR][1000 genomes]
rs10873305	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17105743	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs176769	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs176780	0.85[AMR][1000 genomes]
rs176782	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2364157	1.00[AMR][1000 genomes]
rs2364158	1.00[AMR][1000 genomes]
rs2364159	0.83[AMR][1000 genomes]
rs4243655	1.00[AMR][1000 genomes]
rs58378884	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8006819	1.00[AMR][1000 genomes]
rs8020008	0.84[AFR][1000 genomes]
rs8022549	0.85[AMR][1000 genomes]

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	nsv431017	chr14:76938089-77854647	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	107 gene(s)	inside rSNPs	diseases
2	nsv902107	chr14:77790416-77871777	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:77840600-77844200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr14:77842200-77844000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr14:77842200-77844000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
4	chr14:77842200-77844200	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr14:77842200-77844200	Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr14:77842200-77844200	Active TSS	iPS-20b Cell Line	embryonic stem cell
7	chr14:77842200-77844200	Active TSS	Right Atrium	heart
8	chr14:77842400-77844000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr14:77842400-77844000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr14:77842400-77844000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr14:77842400-77844000	Active TSS	Fetal Brain Male	brain
12	chr14:77842400-77844000	Active TSS	Fetal Intestine Large	intestine
13	chr14:77842400-77844000	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr14:77842400-77844000	Active TSS	Ovary	ovary
15	chr14:77842600-77844000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
16	chr14:77842600-77844000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr14:77842600-77844000	Active TSS	Breast Myoepithelial Primary Cells	Breast
18	chr14:77842600-77844000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr14:77842600-77844200	Active TSS	iPS-15b Cell Line	embryonic stem cell
20	chr14:77842600-77844200	Active TSS	Fetal Kidney	kidney
21	chr14:77842600-77844400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr14:77842600-77844400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr14:77842800-77844000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr14:77842800-77844000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr14:77842800-77844000	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
26	chr14:77842800-77844000	Active TSS	Brain Germinal Matrix	brain
27	chr14:77842800-77844000	Active TSS	Colon Smooth Muscle	Colon
28	chr14:77842800-77844000	Active TSS	Esophagus	oesophagus
29	chr14:77842800-77844000	Active TSS	Gastric	stomach
30	chr14:77842800-77844000	Active TSS	Placenta Amnion	Placenta Amnion
31	chr14:77842800-77844000	Active TSS	Rectal Smooth Muscle	rectum
32	chr14:77842800-77844000	Active TSS	Small Intestine	intestine
33	chr14:77842800-77844000	Active TSS	Thymus	Thymus
34	chr14:77842800-77844200	Active TSS	H9 Cell Line	embryonic stem cell
35	chr14:77842800-77844200	Active TSS	HUES64 Cell Line	embryonic stem cell
36	chr14:77842800-77844200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr14:77842800-77844200	Active TSS	Left Ventricle	heart
38	chr14:77843000-77844000	Active TSS	Aorta	Aorta
39	chr14:77843000-77844000	Active TSS	Duodenum Mucosa	Duodenum
40	chr14:77843000-77844200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr14:77843000-77844200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr14:77843000-77844200	Active TSS	Psoas Muscle	Psoas
43	chr14:77843000-77844200	Active TSS	Right Ventricle	heart
44	chr14:77843200-77844400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr14:77843600-77844000	Flanking Active TSS	Fetal Muscle Trunk	muscle
46	chr14:77843600-77844000	Flanking Active TSS	Placenta	Placenta
47	chr14:77843600-77844200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
48	chr14:77843600-77844200	Flanking Active TSS	Primary B cells from cord blood	blood
49	chr14:77843600-77844200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
50	chr14:77843600-77844200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle

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