Variant report

Variant	rs386687700
Chromosome Location	chr5:43515671-43515672
allele	GC/TT
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:122)
CpG islands
(count:0)
Chromatin interactive
region (count:27)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:122 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:43514596-43516073	Raji	blood:	n/a	n/a
2	IRF1	chr5:43514817-43515973	K562	blood:	n/a	chr5:43515262-43515276 chr5:43515294-43515308
3	GABPA	chr5:43514519-43515695	HL-60	blood:	n/a	n/a
4	POLR2A	chr5:43514221-43515680	IMR90	lung:	n/a	n/a
5	POLR2A	chr5:43514895-43515951	U87	brain:	n/a	n/a
6	REST	chr5:43514616-43515688	A549	lung:	n/a	chr5:43515319-43515332
7	MAX	chr5:43514347-43516211	Hela-S3	cervix:	n/a	n/a
8	MXI1	chr5:43514282-43515947	IMR90	lung:	n/a	n/a
9	RCOR1	chr5:43514661-43515830	K562	blood:	n/a	n/a
10	MYC	chr5:43514687-43516197	K562	blood:	n/a	n/a
11	POLR2A	chr5:43514921-43515715	GM12878	blood:	n/a	n/a
12	POLR2A	chr5:43514388-43516084	Hela-S3	cervix:	n/a	n/a
13	RCOR1	chr5:43514684-43515953	K562	blood:	n/a	n/a
14	GABPA	chr5:43514746-43515689	MCF-7	breast:	n/a	n/a
15	MXI1	chr5:43513290-43516741	SK-N-SH	brain:	n/a	n/a
16	TBL1XR1	chr5:43514532-43515890	K562	blood:	n/a	n/a
17	POLR2A	chr5:43514689-43515831	K562	blood:	n/a	n/a
18	POLR2A	chr5:43514651-43515697	HUVEC	blood vessel:	n/a	n/a
19	HCFC1	chr5:43513376-43516275	Hela-S3	cervix:	n/a	n/a
20	UBTF	chr5:43514685-43515909	K562	blood:	n/a	n/a
21	SIN3AK20	chr5:43514622-43515692	MCF-7	breast:	n/a	n/a
22	SIN3AK20	chr5:43514616-43515739	MCF-7	breast:	n/a	n/a
23	MYC	chr5:43514723-43516019	K562	blood:	n/a	n/a
24	POLR2A	chr5:43514733-43515704	Hela-S3	cervix:	n/a	n/a
25	POLR2A	chr5:43514800-43516080	MCF-7	breast:	n/a	n/a
26	SIN3AK20	chr5:43514882-43515692	HCT-116	colon:	n/a	n/a
27	POLR2A	chr5:43514691-43515902	NB4	blood:	n/a	n/a
28	MAX	chr5:43514485-43515709	A549	lung:	n/a	n/a
29	POLR2A	chr5:43514526-43515829	U87	brain:	n/a	n/a
30	USF2	chr5:43514703-43516121	Hela-S3	cervix:	n/a	n/a
31	POLR2A	chr5:43514505-43516062	SK-N-MC	brain:	n/a	n/a
32	SRF	chr5:43514876-43515676	MCF-7	breast:	n/a	chr5:43515612-43515625 chr5:43515631-43515644 chr5:43515631-43515644 chr5:43515633-43515642 chr5:43515632-43515643
33	MAX	chr5:43514471-43515758	A549	lung:	n/a	n/a
34	POLR2A	chr5:43514570-43515932	K562	blood:	n/a	n/a
35	CHD1	chr5:43514444-43515997	H1-hESC	embryonic stem cell:	n/a	n/a
36	ZNF384	chr5:43514987-43515925	K562	blood:	n/a	n/a
37	ZMIZ1	chr5:43514686-43515715	K562	blood:	n/a	n/a
38	NFIC	chr5:43514533-43515890	GM12878	blood:	n/a	n/a
39	POLR2A	chr5:43514640-43515769	K562	blood:	n/a	n/a
40	TBP	chr5:43514631-43515809	HepG2	liver:	n/a	n/a
41	MYC	chr5:43514699-43516167	NB4	blood:	n/a	n/a
42	GABPA	chr5:43514623-43515902	SK-N-SH	brain:	n/a	n/a
43	MAZ	chr5:43515153-43515697	HepG2	liver:	n/a	n/a
44	STAT3	chr5:43514637-43516011	Hela-S3	cervix:	n/a	chr5:43515260-43515267
45	TCF7L2	chr5:43514851-43515953	PANC-1	pancreas:	n/a	chr5:43515407-43515421
46	EP300	chr5:43514710-43515967	K562	blood:	n/a	chr5:43515291-43515298 chr5:43514766-43514774 chr5:43515351-43515360
47	MYBL2	chr5:43514768-43515696	HepG2	liver:	n/a	n/a
48	JUND	chr5:43514613-43515816	K562	blood:	n/a	n/a
49	GTF2F1	chr5:43514597-43516174	Hela-S3	cervix:	n/a	n/a
50	CEBPB	chr5:43514881-43515805	GM12878	blood:	n/a	n/a

No data

(count:27 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:43513317..43518816-chr5:43554982..43559074,7	K562	blood:
2	chr5:43481776..43485753-chr5:43513662..43518339,9	MCF-7	breast:
3	chr1:156470720..156471325-chr5:43515481..43516077,2	Hela-S3	cervix:
4	chr1:193028757..193029410-chr5:43514881..43515672,2	Hela-S3	cervix:
5	chr5:43515581..43518178-chr5:43521503..43523427,2	K562	blood:
6	chr5:43503310..43506193-chr5:43515154..43517411,2	MCF-7	breast:
7	chr5:43313320..43315914-chr5:43513861..43516716,3	MCF-7	breast:
8	chr5:43513630..43515846-chr5:43533848..43535598,2	K562	blood:
9	chr5:43509258..43511697-chr5:43513556..43516037,3	MCF-7	breast:
10	chr14:51134598..51135106-chr5:43515064..43515768,2	Hela-S3	cervix:
11	chr5:43475623..43478316-chr5:43514281..43516099,2	MCF-7	breast:
12	chr5:43513716..43515768-chr5:43530681..43534102,3	K562	blood:
13	chr5:43482660..43486669-chr5:43512252..43517355,11	K562	blood:
14	chr5:43513363..43516571-chr5:43601265..43603524,3	K562	blood:
15	chr3:49507518..49508282-chr5:43515171..43515703,2	Hela-S3	cervix:
16	chr5:43513317..43519979-chr5:43552519..43558793,19	K562	blood:
17	chr12:49658477..49659213-chr5:43515144..43515733,2	Hela-S3	cervix:
18	chr5:43481800..43486706-chr5:43511486..43517226,18	K562	blood:
19	chr3:9438651..9439381-chr5:43515156..43515834,2	Hela-S3	cervix:
20	chr5:43120420..43122830-chr5:43512903..43515731,2	MCF-7	breast:
21	chr5:43482545..43485280-chr5:43513880..43516299,2	MCF-7	breast:
22	chr16:89626684..89627329-chr5:43514846..43515824,3	Hela-S3	cervix:
23	chr5:43513876..43516684-chr5:43553510..43558785,6	MCF-7	breast:
24	chr5:43512478..43519226-chr5:43552704..43558861,10	MCF-7	breast:
25	chr19:49954530..49955192-chr5:43514769..43515700,2	Hela-S3	cervix:
26	chr5:43502114..43510409-chr5:43511788..43516990,15	K562	blood:
27	chr5:43514938..43515803-chr7:99724330..99725327,2	NB4	blood:

No data

Variant related genes	Relation type
C5orf34	TF binding region
ENSG00000151748	Chromatin interaction
ENSG00000172262	Chromatin interaction
ENSG00000151881	Chromatin interaction
ENSG00000104872	Chromatin interaction
ENSG00000173402	Chromatin interaction
ENSG00000206573	Chromatin interaction
ENSG00000258101	Chromatin interaction
ENSG00000214309	Chromatin interaction
ENSG00000167553	Chromatin interaction
ENSG00000172244	Chromatin interaction
ENSG00000249492	Chromatin interaction
ENSG00000242798	Chromatin interaction
ENSG00000172239	Chromatin interaction
ENSG00000112992	Chromatin interaction
ENSG00000112972	Chromatin interaction
ENSG00000168137	Chromatin interaction
ENSG00000248554	Chromatin interaction
ENSG00000167526	Chromatin interaction
ENSG00000116747	Chromatin interaction
ENSG00000248092	Chromatin interaction
ENSG00000116750	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv881017	chr5:43444826-43731692	Weak transcription Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	222 gene(s)	inside rSNPs	diseases
2	nsv830275	chr5:43469511-43639384	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	220 gene(s)	inside rSNPs	diseases
3	esv1835057	chr5:43515280-43557405	Active TSS Flanking Active TSS Genic enhancers Strong transcription Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
4	esv1835614	chr5:43515280-43561759	Genic enhancers Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
5	esv1837000	chr5:43515280-43561759	Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43513400-43515800	Active TSS	H1 Cell Line	embryonic stem cell
2	chr5:43513400-43515800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr5:43513600-43515800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr5:43513800-43515800	Active TSS	iPS-15b Cell Line	embryonic stem cell
5	chr5:43513800-43516000	Active TSS	H9 Cell Line	embryonic stem cell
6	chr5:43513800-43516000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr5:43513800-43516600	Active TSS	GM12878-XiMat	blood
8	chr5:43514000-43515800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
9	chr5:43514000-43515800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr5:43514000-43515800	Active TSS	HMEC	breast
11	chr5:43514000-43515800	Active TSS	K562	blood
12	chr5:43514000-43516000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr5:43514000-43516400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr5:43514200-43515800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr5:43514200-43515800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
16	chr5:43514200-43515800	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr5:43514200-43515800	Active TSS	A549	lung
18	chr5:43514200-43516000	Flanking Active TSS	Primary hematopoietic stem cells	blood
19	chr5:43514200-43516000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr5:43514200-43516000	Active TSS	Fetal Muscle Trunk	muscle
21	chr5:43514200-43516000	Active TSS	HSMM	muscle
22	chr5:43514200-43516200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr5:43514200-43516200	Active TSS	HUES64 Cell Line	embryonic stem cell
24	chr5:43514200-43516200	Active TSS	iPS-20b Cell Line	embryonic stem cell
25	chr5:43514200-43516200	Active TSS	Right Atrium	heart
26	chr5:43514400-43515800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr5:43514400-43515800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr5:43514400-43515800	Active TSS	HUES48 Cell Line	embryonic stem cell
29	chr5:43514400-43515800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr5:43514400-43515800	Active TSS	Brain Germinal Matrix	brain
31	chr5:43514400-43515800	Active TSS	Fetal Intestine Large	intestine
32	chr5:43514400-43515800	Active TSS	Stomach Smooth Muscle	stomach
33	chr5:43514400-43515800	Active TSS	Thymus	Thymus
34	chr5:43514400-43515800	Active TSS	HSMMtube	muscle
35	chr5:43514400-43515800	Active TSS	NHEK	skin
36	chr5:43514400-43516000	Active TSS	Fetal Muscle Leg	muscle
37	chr5:43514400-43516000	Active TSS	Psoas Muscle	Psoas
38	chr5:43514400-43516000	Active TSS	Right Ventricle	heart
39	chr5:43514400-43516400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr5:43514600-43515800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr5:43514600-43515800	Active TSS	Muscle Satellite Cultured Cells	--
42	chr5:43514600-43515800	Active TSS	Brain Cingulate Gyrus	brain
43	chr5:43514600-43515800	Active TSS	Fetal Heart	heart
44	chr5:43514600-43515800	Active TSS	Fetal Stomach	stomach
45	chr5:43514600-43515800	Active TSS	Lung	lung
46	chr5:43514600-43515800	Active TSS	Ovary	ovary
47	chr5:43514600-43515800	Active TSS	Stomach Mucosa	stomach
48	chr5:43514600-43515800	Active TSS	NHLF	lung
49	chr5:43514600-43516000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr5:43514600-43516000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood

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