Variant report

Variant	rs11542580
Chromosome Location	chr5:68660935-68660936
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	FOS	chr5:68660771-68660966	MCF10A-Er-Src	breast:	n/a	n/a
2	MAFK	chr5:68660756-68661125	HepG2	liver:	n/a	chr5:68660936-68660951
3	HEY1	chr5:68660869-68661297	K562	blood:	n/a	n/a
4	JUN	chr5:68660680-68661004	HepG2	liver:	n/a	chr5:68660867-68660880
5	FOS	chr5:68660711-68660970	MCF10A-Er-Src	breast:	n/a	n/a
6	MAFK	chr5:68660391-68661129	HepG2	liver:	n/a	chr5:68660936-68660951
7	POLR2A	chr5:68660786-68661556	SK-N-MC	brain:	n/a	n/a
8	MAFK	chr5:68660758-68661162	IMR90	lung:	n/a	chr5:68660936-68660951
9	MAFF	chr5:68660760-68661128	HepG2	liver:	n/a	chr5:68660934-68660952
10	POLR2A	chr5:68660879-68661035	MCF10A-Er-Src	breast:	n/a	n/a
11	MAFK	chr5:68660359-68661129	K562	blood:	n/a	chr5:68660936-68660951
12	POLR2A	chr5:68660742-68661205	GM12891	blood:	n/a	n/a
13	POLR2A	chr5:68660723-68661103	K562	blood:	n/a	n/a
14	MAFF	chr5:68660775-68661107	K562	blood:	n/a	chr5:68660934-68660952
15	POLR2A	chr5:68660103-68661118	K562	blood:	n/a	n/a
16	JUND	chr5:68660324-68661023	HepG2	liver:	n/a	chr5:68660842-68660853
17	POLR2A	chr5:68660839-68661196	GM12891	blood:	n/a	n/a
18	POLR2A	chr5:68660813-68661320	GM12878	blood:	n/a	n/a
19	POLR2A	chr5:68660092-68661244	K562	blood:	n/a	n/a
20	POLR2A	chr5:68660255-68661023	HepG2	liver:	n/a	n/a
21	MAFK	chr5:68660749-68661086	Hela-S3	cervix:	n/a	chr5:68660936-68660951
22	FOS	chr5:68660771-68660983	MCF10A-Er-Src	breast:	n/a	n/a
23	POLR2A	chr5:68659738-68662513	K562	blood:	n/a	n/a
24	CTCF	chr5:68660840-68660990	BE2_C	brain:	n/a	n/a
25	MAFK	chr5:68660763-68661010	H1-hESC	embryonic stem cell:	n/a	chr5:68660936-68660951
26	POLR2A	chr5:68660658-68661167	GM12892	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:68637589..68639798-chr5:68660289..68662388,2	MCF-7	breast:
2	chr5:68626792..68633026-chr5:68660168..68667090,13	MCF-7	breast:
3	chr5:68654797..68657370-chr5:68660109..68661621,2	MCF-7	breast:
4	chr5:68644789..68648896-chr5:68660361..68665573,5	K562	blood:
5	chr5:68659075..68661167-chr5:68788179..68790221,2	MCF-7	breast:
6	chr5:68655369..68657333-chr5:68659094..68660959,2	MCF-7	breast:
7	chr5:68626462..68633259-chr5:68656360..68665608,14	MCF-7	breast:

Variant related genes	Relation type
RAD17	TF binding region
ENSG00000197822	Chromatin interaction
ENSG00000271045	Chromatin interaction
ENSG00000215006	Chromatin interaction
ENSG00000183323	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018151	chr5:68377118-68667581	Enhancers Active TSS Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv1035004	chr5:68405526-68670101	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	nsv881767	chr5:68625786-68733698	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv980655	chr5:68660597-68661996	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:68639200-68663400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr5:68643000-68664400	Weak transcription	Colonic Mucosa	Colon
3	chr5:68643200-68663200	Weak transcription	Small Intestine	intestine
4	chr5:68643800-68663600	Weak transcription	Brain Angular Gyrus	brain
5	chr5:68645800-68663400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr5:68646200-68661000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr5:68646200-68661000	Weak transcription	Pancreas	Pancrea
8	chr5:68646600-68661000	Weak transcription	Psoas Muscle	Psoas
9	chr5:68647400-68663400	Weak transcription	Fetal Brain Male	brain
10	chr5:68647400-68663800	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr5:68648400-68663400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr5:68649200-68663600	Weak transcription	Brain Substantia Nigra	brain
13	chr5:68649400-68663400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr5:68651400-68663600	Weak transcription	Right Ventricle	heart
15	chr5:68651400-68664400	Weak transcription	Aorta	Aorta
16	chr5:68653200-68664600	Weak transcription	Esophagus	oesophagus
17	chr5:68654400-68663200	Strong transcription	Primary B cells from peripheral blood	blood
18	chr5:68654800-68663400	Strong transcription	Fetal Muscle Leg	muscle
19	chr5:68655600-68662400	Strong transcription	Primary T cells from cord blood	blood
20	chr5:68656000-68663400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
21	chr5:68656000-68663400	Strong transcription	Fetal Thymus	thymus
22	chr5:68657000-68663200	Strong transcription	Primary monocytes fromperipheralblood	blood
23	chr5:68657800-68663200	Strong transcription	HUES64 Cell Line	embryonic stem cell
24	chr5:68657800-68663200	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chr5:68657800-68663400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr5:68657800-68663400	Strong transcription	Fetal Muscle Trunk	muscle
27	chr5:68658000-68661600	Strong transcription	Fetal Brain Female	brain
28	chr5:68658000-68662000	Strong transcription	A549	lung
29	chr5:68658000-68662200	Strong transcription	Primary T helper cells fromperipheralblood	blood
30	chr5:68658000-68662400	Strong transcription	HUVEC	blood vessel
31	chr5:68658000-68662400	Strong transcription	K562	blood
32	chr5:68658000-68662600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr5:68658000-68663000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr5:68658000-68663000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr5:68658000-68663000	Strong transcription	Liver	Liver
36	chr5:68658000-68663200	Strong transcription	Primary B cells from cord blood	blood
37	chr5:68658000-68663200	Strong transcription	Placenta	Placenta
38	chr5:68658000-68663400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr5:68658000-68663400	Strong transcription	HUES6 Cell Line	embryonic stem cell
40	chr5:68658000-68663400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr5:68658200-68662600	Strong transcription	H1 Cell Line	embryonic stem cell
42	chr5:68658200-68662600	Strong transcription	HUES48 Cell Line	embryonic stem cell
43	chr5:68658200-68662600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr5:68658200-68663000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr5:68658200-68663000	Strong transcription	Primary T cells fromperipheralblood	blood
46	chr5:68658200-68663200	Strong transcription	Adipose Nuclei	Adipose
47	chr5:68658200-68663200	Strong transcription	Rectal Mucosa Donor 29	rectum
48	chr5:68658200-68663400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr5:68658200-68663400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr5:68658200-68663400	Strong transcription	Fetal Intestine Large	intestine

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