Variant report

Variant	rs115175414
Chromosome Location	chr5:177557760-177557761
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	GABPA	chr5:177557617-177558322	HL-60	blood:	n/a	chr5:177558126-177558135
2	RCOR1	chr5:177557557-177557992	K562	blood:	n/a	n/a
3	REST	chr5:177557758-177558245	H1-neurons	neurons:	n/a	chr5:177558085-177558098
4	ELF1	chr5:177557478-177559225	MCF-7	breast:	n/a	chr5:177558000-177558009 chr5:177557998-177558011 chr5:177557549-177557561 chr5:177558383-177558395 chr5:177557989-177558001 chr5:177558246-177558258
5	TBP	chr5:177557410-177558532	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr5:177557382-177558523	K562	blood:	n/a	n/a
7	POLR2A	chr5:177557420-177558452	A549	lung:	n/a	n/a
8	FOXM1	chr5:177557464-177558112	GM12878	blood:	n/a	n/a
9	ZBTB7A	chr5:177557399-177558087	K562	blood:	n/a	chr5:177557818-177557829
10	TAF7	chr5:177557398-177558515	H1-hESC	embryonic stem cell:	n/a	n/a
11	CTCF	chr5:177557474-177557938	K562	blood:	n/a	n/a
12	TAF1	chr5:177557546-177558335	ECC-1	luminal epithelium:	n/a	n/a
13	POLR2A	chr5:177557295-177558393	HUVEC	blood vessel:	n/a	n/a
14	RFX5	chr5:177557461-177558007	HepG2	liver:	n/a	chr5:177557795-177557811 chr5:177557485-177557498
15	SP1	chr5:177557735-177558155	GM12878	blood:	n/a	chr5:177557965-177557977
16	GTF2B	chr5:177557727-177558119	K562	blood:	n/a	n/a
17	POLR2A	chr5:177557457-177558182	HepG2	liver:	n/a	n/a
18	ELK4	chr5:177557751-177558238	HEK293	kidney:	n/a	chr5:177557997-177558008 chr5:177557999-177558008 chr5:177558023-177558034 chr5:177558000-177558008
19	POLR2A	chr5:177557524-177558240	Gliobla	brain:	n/a	n/a
20	SP1	chr5:177557584-177558180	A549	lung:	n/a	chr5:177557965-177557977
21	TBL1XR1	chr5:177557711-177558391	K562	blood:	n/a	n/a
22	MAX	chr5:177557520-177558270	HCT-116	colon:	n/a	n/a
23	POLR2A	chr5:177557524-177558414	MCF10A-Er-Src	breast:	n/a	n/a
24	POLR2A	chr5:177557385-177558239	A549	lung:	n/a	n/a
25	HDAC2	chr5:177557634-177558084	HepG2	liver:	n/a	n/a
26	MXI1	chr5:177557689-177558451	Hela-S3	cervix:	n/a	n/a
27	POLR2A	chr5:177557315-177559003	GM12891	blood:	n/a	n/a
28	MAZ	chr5:177557360-177558575	IMR90	lung:	n/a	n/a
29	RCOR1	chr5:177557284-177558807	K562	blood:	n/a	n/a
30	SMC3	chr5:177557484-177558372	Hela-S3	cervix:	n/a	n/a
31	FOXM1	chr5:177557621-177557950	GM12878	blood:	n/a	n/a
32	GABPA	chr5:177557501-177558345	SK-N-SH	brain:	n/a	chr5:177558126-177558135
33	POLR2A	chr5:177557246-177558921	SK-N-MC	brain:	n/a	n/a
34	UBTF	chr5:177557418-177558414	K562	blood:	n/a	n/a
35	MYC	chr5:177557719-177558749	MCF10A-Er-Src	breast:	n/a	n/a
36	E2F4	chr5:177557682-177558095	MCF10A-Er-Src	breast:	n/a	n/a
37	TAF1	chr5:177557263-177558617	H1-hESC	embryonic stem cell:	n/a	n/a
38	SIN3A	chr5:177557522-177558878	H1-hESC	embryonic stem cell:	n/a	chr5:177558252-177558261 chr5:177558281-177558294 chr5:177558481-177558494 chr5:177558099-177558112
39	CHD1	chr5:177557357-177558395	H1-hESC	embryonic stem cell:	n/a	n/a
40	EBF1	chr5:177557462-177558083	GM12878	blood:	n/a	n/a
41	MAX	chr5:177557496-177558165	SK-N-SH	brain:	n/a	n/a
42	GABPA	chr5:177557503-177558443	A549	lung:	n/a	chr5:177558126-177558135
43	SIX5	chr5:177557748-177558096	K562	blood:	n/a	n/a
44	PML	chr5:177557510-177558289	K562	blood:	n/a	n/a
45	SRF	chr5:177557509-177558262	MCF-7	breast:	n/a	n/a
46	GATA3	chr5:177557355-177558372	MCF-7	breast:	n/a	n/a
47	JUND	chr5:177557692-177557905	H1-hESC	embryonic stem cell:	n/a	chr5:177557720-177557729
48	POLR2A	chr5:177557180-177559198	H1-hESC	embryonic stem cell:	n/a	n/a
49	MAX	chr5:177557360-177558449	HCT-116	colon:	n/a	n/a
50	IRF1	chr5:177557515-177558461	K562	blood:	n/a	chr5:177557965-177557979

No.	Distal block	Cell Line	Cell type
1	chr5:177556499..177561085-chr5:177629309..177633856,7	K562	blood:
2	chr5:177557386..177557994-chr7:96162492..96163492,2	HCT-116	colon:
3	chr11:62608645..62609556-chr5:177557343..177558256,2	NB4	blood:
4	chr5:177556214..177559808-chr5:177575521..177582645,10	K562	blood:
5	chr5:177556514..177559685-chr5:177630098..177633052,4	K562	blood:
6	chr5:177554586..177557949-chr5:177561501..177564806,6	K562	blood:
7	chr5:177556060..177559207-chr5:177571980..177574313,5	K562	blood:
8	chr17:56084693..56085358-chr5:177557758..177558549,2	Hela-S3	cervix:
9	chr1:28240140..28241106-chr5:177557176..177557955,2	Hela-S3	cervix:
10	chr5:177556060..177559089-chr5:177572421..177574313,3	K562	blood:
11	chr5:177556823..177560281-chr5:177564764..177567288,3	K562	blood:
12	chr5:177556550..177559096-chr5:177579482..177582645,4	K562	blood:
13	chr5:177555803..177560183-chr5:177628551..177633825,8	MCF-7	breast:

Variant related genes	Relation type
RMND5B	TF binding region
ENSG00000136450	Chromatin interaction
ENSG00000145916	Chromatin interaction
ENSG00000145912	Chromatin interaction
ENSG00000117748	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000197451	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030383	chr5:177310325-177571254	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv948342	chr5:177384542-178168737	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	141 gene(s)	inside rSNPs	diseases
3	nsv1021198	chr5:177386267-177611648	Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
4	nsv1029398	chr5:177502106-178070654	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	136 gene(s)	inside rSNPs	diseases
5	nsv462567	chr5:177505021-177572927	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
6	nsv471058	chr5:177505021-177572927	Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv600392	chr5:177505021-177572927	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	nsv1019404	chr5:177507080-177859089	Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Active TSS Weak transcription Genic enhancers 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	126 gene(s)	inside rSNPs	diseases
9	nsv883190	chr5:177532201-177620189	Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
10	nsv883192	chr5:177535370-177564346	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
11	nsv600394	chr5:177549491-177608195	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
12	esv3424416	chr5:177556571-177559319	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 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	chr5:177549400-177558200	Weak transcription	Fetal Heart	heart
2	chr5:177556800-177558600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr5:177556800-177559600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:177557000-177557800	Enhancers	Fetal Brain Male	brain
5	chr5:177557000-177558600	Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr5:177557000-177558600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr5:177557000-177558600	Active TSS	Breast Myoepithelial Primary Cells	Breast
8	chr5:177557000-177558600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr5:177557000-177558600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr5:177557000-177558600	Active TSS	Skeletal Muscle Female	skeletal muscle
11	chr5:177557000-177558600	Active TSS	Stomach Smooth Muscle	stomach
12	chr5:177557000-177558600	Bivalent/Poised TSS	HepG2	liver
13	chr5:177557000-177558800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr5:177557000-177559000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr5:177557200-177557800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
16	chr5:177557200-177557800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr5:177557200-177557800	Flanking Active TSS	HUVEC	blood vessel
18	chr5:177557200-177558200	Active TSS	Monocytes-CD14+_RO01746	blood
19	chr5:177557200-177558400	Active TSS	Primary T cells from cord blood	blood
20	chr5:177557200-177558400	Active TSS	Fetal Muscle Trunk	muscle
21	chr5:177557200-177558600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr5:177557200-177558600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr5:177557200-177558600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr5:177557200-177558600	Active TSS	Brain Angular Gyrus	brain
25	chr5:177557200-177558600	Active TSS	Brain Anterior Caudate	brain
26	chr5:177557200-177558600	Active TSS	Brain Cingulate Gyrus	brain
27	chr5:177557200-177558600	Active TSS	Brain Germinal Matrix	brain
28	chr5:177557200-177558600	Active TSS	Brain Inferior Temporal Lobe	brain
29	chr5:177557200-177558600	Active TSS	Brain Substantia Nigra	brain
30	chr5:177557200-177558600	Active TSS	Colon Smooth Muscle	Colon
31	chr5:177557200-177558600	Active TSS	Duodenum Mucosa	Duodenum
32	chr5:177557200-177558600	Active TSS	Duodenum Smooth Muscle	Duodenum
33	chr5:177557200-177558600	Active TSS	Fetal Brain Female	brain
34	chr5:177557200-177558600	Active TSS	Fetal Intestine Large	intestine
35	chr5:177557200-177558600	Active TSS	Placenta	Placenta
36	chr5:177557200-177558600	Active TSS	Ovary	ovary
37	chr5:177557200-177558600	Active TSS	Placenta Amnion	Placenta Amnion
38	chr5:177557200-177558600	Active TSS	Rectal Mucosa Donor 29	rectum
39	chr5:177557200-177558600	Active TSS	Rectal Smooth Muscle	rectum
40	chr5:177557200-177558600	Active TSS	Thymus	Thymus
41	chr5:177557200-177558600	Active TSS	GM12878-XiMat	blood
42	chr5:177557200-177558600	Active TSS	Hela-S3	cervix
43	chr5:177557200-177558600	Active TSS	HMEC	breast
44	chr5:177557200-177558600	Active TSS	NH-A	brain
45	chr5:177557200-177558600	Active TSS	NHEK	skin
46	chr5:177557200-177558600	Active TSS	NHLF	lung
47	chr5:177557200-177558600	Active TSS	Osteobl	bone
48	chr5:177557200-177558800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr5:177557200-177558800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr5:177557200-177558800	Active TSS	Fetal Kidney	kidney

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