Variant report

Variant	rs576221388
Chromosome Location	chr5:43515385-43515386
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:419)
CpG islands
(count:61)
Chromatin interactive
region (count:42)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:419 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ELK1	chr5:43514319-43515621	K562	blood:	n/a	n/a
2	STAT3	chr5:43515166-43515390	MCF10A-Er-Src	breast:	n/a	chr5:43515260-43515267
3	POLR2A	chr5:43514596-43516073	Raji	blood:	n/a	n/a
4	YY1	chr5:43514839-43515520	A549	lung:	n/a	chr5:43515318-43515332
5	TAF1	chr5:43514780-43515624	ECC-1	luminal epithelium:	n/a	n/a
6	POLR2A	chr5:43514723-43515597	Gliobla	brain:	n/a	n/a
7	IRF1	chr5:43514817-43515973	K562	blood:	n/a	chr5:43515262-43515276 chr5:43515294-43515308
8	YY1	chr5:43514764-43515556	ECC-1	luminal epithelium:	n/a	chr5:43515318-43515332
9	GABPA	chr5:43514519-43515695	HL-60	blood:	n/a	n/a
10	TCF12	chr5:43514877-43515612	ECC-1	luminal epithelium:	n/a	n/a
11	POLR2A	chr5:43514954-43515596	MCF-7	breast:	n/a	n/a
12	POLR2A	chr5:43514221-43515680	IMR90	lung:	n/a	n/a
13	TAF1	chr5:43514921-43515400	H1-neurons	neurons:	n/a	n/a
14	POLR2A	chr5:43514895-43515951	U87	brain:	n/a	n/a
15	MAZ	chr5:43515018-43515599	GM12878	blood:	n/a	n/a
16	YY1	chr5:43514968-43515549	ECC-1	luminal epithelium:	n/a	chr5:43515318-43515332
17	REST	chr5:43514616-43515688	A549	lung:	n/a	chr5:43515319-43515332
18	CREB1	chr5:43514647-43515656	GM12878	blood:	n/a	n/a
19	MAX	chr5:43514347-43516211	Hela-S3	cervix:	n/a	n/a
20	MAFK	chr5:43515150-43515404	IMR90	lung:	n/a	n/a
21	MXI1	chr5:43514282-43515947	IMR90	lung:	n/a	n/a
22	RCOR1	chr5:43514661-43515830	K562	blood:	n/a	n/a
23	MYC	chr5:43514687-43516197	K562	blood:	n/a	n/a
24	TEAD4	chr5:43514103-43515610	K562	blood:	n/a	n/a
25	YY1	chr5:43515008-43515552	SK-N-SH_RA	brain:	n/a	chr5:43515318-43515332
26	HMGN3	chr5:43515118-43515421	K562	blood:	n/a	n/a
27	THAP1	chr5:43515138-43515395	K562	blood:	n/a	n/a
28	SP1	chr5:43514916-43515502	H1-hESC	embryonic stem cell:	n/a	chr5:43515265-43515274 chr5:43515297-43515311 chr5:43515265-43515279 chr5:43515297-43515306 chr5:43515296-43515308 chr5:43515264-43515276 chr5:43515296-43515308 chr5:43515264-43515276
29	MAX	chr5:43514755-43515477	GM12878	blood:	n/a	n/a
30	POLR2A	chr5:43514921-43515715	GM12878	blood:	n/a	n/a
31	POLR2A	chr5:43514388-43516084	Hela-S3	cervix:	n/a	n/a
32	RFX5	chr5:43514369-43515421	K562	blood:	n/a	n/a
33	RCOR1	chr5:43514684-43515953	K562	blood:	n/a	n/a
34	NFIC	chr5:43514884-43515546	GM12878	blood:	n/a	n/a
35	GABPA	chr5:43514746-43515689	MCF-7	breast:	n/a	n/a
36	ELF1	chr5:43514944-43515580	SK-N-SH	brain:	n/a	n/a
37	POLR2A	chr5:43515043-43515599	HepG2	liver:	n/a	n/a
38	MXI1	chr5:43513290-43516741	SK-N-SH	brain:	n/a	n/a
39	PML	chr5:43514985-43515633	MCF-7	breast:	n/a	n/a
40	TBL1XR1	chr5:43514532-43515890	K562	blood:	n/a	n/a
41	POLR2A	chr5:43514689-43515831	K562	blood:	n/a	n/a
42	TAF1	chr5:43514953-43515602	MCF-7	breast:	n/a	n/a
43	MAFK	chr5:43514676-43515530	K562	blood:	n/a	n/a
44	POLR2A	chr5:43514743-43515613	K562	blood:	n/a	n/a
45	MAZ	chr5:43514319-43515514	Hela-S3	cervix:	n/a	n/a
46	SP2	chr5:43514971-43515561	HepG2	liver:	n/a	chr5:43515264-43515279
47	POLR2A	chr5:43514577-43515550	Hela-S3	cervix:	n/a	n/a
48	CHD2	chr5:43514741-43515484	K562	blood:	n/a	n/a
49	RUNX3	chr5:43514546-43515630	GM12878	blood:	n/a	chr5:43515183-43515198
50	ELF1	chr5:43514724-43515526	HepG2	liver:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:43515376-43515426	Hepatocyte	liver:	n/a
2	chr5:43515376-43515426	HEK293	kidney:	embryo
3	chr5:43515376-43515426	GM12892	blood:	n/a
4	chr5:43515376-43515426	CMK	blood:	n/a
5	chr5:43515376-43515426	AG10803	skin:	n/a
6	chr5:43515376-43515426	HCT-116	colon:	n/a
7	chr5:43515376-43515426	MCF10A-Er-Src	breast:	n/a
8	chr5:43515376-43515426	ovcar-3	ovarian:	n/a
9	chr5:43515376-43515426	SAEC	small airway:	n/a
10	chr5:43515376-43515426	AG09319	gingival:	n/a
11	chr5:43515376-43515426	H1-hESC	embryonic stem cell:	embryo
12	chr5:43515376-43515426	AG09309	skin:	n/a
13	chr5:43515376-43515426	HepG2	liver:	n/a
14	chr5:43515376-43515426	HPAEpiC	pulmonary alveolar:	n/a
15	chr5:43515376-43515426	HCPEpiC	choroid plexus:	n/a
16	chr5:43515376-43515426	NT2-D1	testis:	n/a
17	chr5:43515376-43515426	GM12891	blood:	n/a
18	chr5:43515376-43515426	PrEC	prostate:	n/a
19	chr5:43515376-43515426	T-47D	breast:	n/a
20	chr5:43515376-43515426	Hela-S3	cervix:	n/a
21	chr5:43515376-43515426	HIPEpiC	eye:	n/a
22	chr5:43515376-43515426	LNCaP	prostate:	n/a
23	chr5:43515376-43515426	SK-N-MC	brain:	n/a
24	chr5:43515376-43515426	GM19239	blood:	n/a
25	chr5:43515376-43515426	PANC-1	pancreas:	n/a
26	chr5:43515376-43515426	NH-A	brain:	n/a
27	chr5:43515376-43515426	HUVEC	blood vessel:	n/a
28	chr5:43515376-43515426	GM12878	blood:	n/a
29	chr5:43515376-43515426	SK-N-SH_RA	brain:	n/a
30	chr5:43515376-43515426	HCF	heart:	n/a
31	chr5:43515376-43515426	HRCEpiC	kidney:	n/a
32	chr5:43515376-43515426	Caco-2	colon:	n/a
33	chr5:43515376-43515426	U87	brain:	n/a
34	chr5:43515376-43515426	GM06990	blood:	n/a
35	chr5:43515376-43515426	NHDF-neo	bronchial:	n/a
36	chr5:43515376-43515426	A549	lung:	n/a
37	chr5:43515376-43515426	HCM	heart:	n/a
38	chr5:43515376-43515426	SK-N-SH	brain:	n/a
39	chr5:43515376-43515426	HMEC	breast:	n/a
40	chr5:43515376-43515426	MCF-7	breast:	n/a
41	chr5:43515376-43515426	K562	blood:	n/a
42	chr5:43515376-43515426	IMR90	lung:	fetal
43	chr5:43515376-43515426	HAEpiC	amniotic membrane:	n/a
44	chr5:43515376-43515426	HRPEpiC	eye:	n/a
45	chr5:43515376-43515426	PFSK-1	brain:	n/a
46	chr5:43515376-43515426	ECC-1	luminal epithelium:	n/a
47	chr5:43515376-43515426	HNPCEpiC	eye:	n/a
48	chr5:43515376-43515426	AoSMC	blood vessel:	n/a
49	chr5:43515376-43515426	ProgFib	skin:	n/a
50	chr5:43515376-43515426	BE2_C	brain:	n/a

(count:42 , 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	chr4:77069119..77069659-chr5:43515125..43515663,2	Hela-S3	cervix:
4	chr1:193028757..193029410-chr5:43514881..43515672,2	Hela-S3	cervix:
5	chr5:43514694..43515572-chr7:56032328..56033081,2	Hela-S3	cervix:
6	chr17:74732984..74733625-chr5:43514952..43515667,2	Hela-S3	cervix:
7	chr10:5855076..5855594-chr5:43514799..43515487,2	Hela-S3	cervix:
8	chr5:43503310..43506193-chr5:43515154..43517411,2	MCF-7	breast:
9	chr5:43313320..43315914-chr5:43513861..43516716,3	MCF-7	breast:
10	chr5:43513630..43515846-chr5:43533848..43535598,2	K562	blood:
11	chr5:43509258..43511697-chr5:43513556..43516037,3	MCF-7	breast:
12	chr3:122233679..122234223-chr5:43514539..43515399,2	NB4	blood:
13	chr14:51134598..51135106-chr5:43515064..43515768,2	Hela-S3	cervix:
14	chr1:78224681..78225640-chr5:43514886..43515569,2	Hela-S3	cervix:
15	chr5:43475623..43478316-chr5:43514281..43516099,2	MCF-7	breast:
16	chr5:43513716..43515768-chr5:43530681..43534102,3	K562	blood:
17	chr5:43512794..43515547-chr5:43602190..43604500,3	MCF-7	breast:
18	chr5:43482660..43486669-chr5:43512252..43517355,11	K562	blood:
19	chr5:43513363..43516571-chr5:43601265..43603524,3	K562	blood:
20	chr3:49507518..49508282-chr5:43515171..43515703,2	Hela-S3	cervix:
21	chr5:43513317..43519979-chr5:43552519..43558793,19	K562	blood:
22	chr12:49658477..49659213-chr5:43515144..43515733,2	Hela-S3	cervix:
23	chr17:34889809..34890572-chr5:43514892..43515663,2	Hela-S3	cervix:
24	chr5:43514891..43515642-chr6:33284953..33285772,2	Hela-S3	cervix:
25	chr5:43481800..43486706-chr5:43511486..43517226,18	K562	blood:
26	chr3:9438651..9439381-chr5:43515156..43515834,2	Hela-S3	cervix:
27	chr5:43120420..43122830-chr5:43512903..43515731,2	MCF-7	breast:
28	chr5:43482545..43485280-chr5:43513880..43516299,2	MCF-7	breast:
29	chr16:89626684..89627329-chr5:43514846..43515824,3	Hela-S3	cervix:
30	chr5:43505860..43508968-chr5:43512640..43515485,3	MCF-7	breast:
31	chr12:14923768..14924588-chr5:43514889..43515490,2	Hela-S3	cervix:
32	chr15:65596698..65597695-chr5:43514892..43515614,3	Hela-S3	cervix:
33	chr10:75006684..75007194-chr5:43515061..43515622,2	NB4	blood:
34	chr3:48488174..48489157-chr5:43514876..43515648,2	Hela-S3	cervix:
35	chr11:64851655..64852260-chr5:43514967..43515641,2	Hela-S3	cervix:
36	chr5:43513876..43516684-chr5:43553510..43558785,6	MCF-7	breast:
37	chr5:43512478..43519226-chr5:43552704..43558861,10	MCF-7	breast:
38	chr19:49954530..49955192-chr5:43514769..43515700,2	Hela-S3	cervix:
39	chr13:107219557..107220085-chr5:43515084..43515665,2	Hela-S3	cervix:
40	chr10:93169300..93170227-chr5:43514707..43515605,2	Hela-S3	cervix:
41	chr5:43502114..43510409-chr5:43511788..43516990,15	K562	blood:
42	chr5:43514938..43515803-chr7:99724330..99725327,2	NB4	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NNT-1	chr5:43515376-43515562	ENSG00000248240.1

No data

Variant related genes	Relation type
C5orf34	TF binding region
C5orf34	CpG island
ENSG00000161547	Chromatin interaction
ENSG00000236756	Chromatin interaction
ENSG00000168137	Chromatin interaction
ENSG00000214309	Chromatin interaction
ENSG00000116747	Chromatin interaction
ENSG00000151881	Chromatin interaction
ENSG00000248092	Chromatin interaction
ENSG00000112972	Chromatin interaction
ENSG00000162300	Chromatin interaction
ENSG00000172239	Chromatin interaction
ENSG00000197837	Chromatin interaction
ENSG00000141140	Chromatin interaction
ENSG00000167553	Chromatin interaction
ENSG00000138750	Chromatin interaction
ENSG00000248554	Chromatin interaction
ENSG00000164053	Chromatin interaction
ENSG00000206573	Chromatin interaction
ENSG00000173402	Chromatin interaction
ENSG00000200156	Chromatin interaction
ENSG00000114030	Chromatin interaction
ENSG00000172244	Chromatin interaction
ENSG00000104872	Chromatin interaction
ENSG00000236104	Chromatin interaction
ENSG00000112992	Chromatin interaction
ENSG00000172262	Chromatin interaction
ENSG00000258101	Chromatin interaction
ENSG00000151748	Chromatin interaction
ENSG00000116750	Chromatin interaction
ENSG00000165338	Chromatin interaction
ENSG00000249492	Chromatin interaction
ENSG00000167526	Chromatin interaction
ENSG00000092931	Chromatin interaction
ENSG00000146729	Chromatin interaction
ENSG00000242798	Chromatin interaction
ENSG00000077254	Chromatin interaction
ENSG00000057608	Chromatin interaction
ENSG00000134884	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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43513400-43515600	Active TSS	iPS-18 Cell Line	embryonic stem cell
2	chr5:43513400-43515800	Active TSS	H1 Cell Line	embryonic stem cell
3	chr5:43513400-43515800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr5:43513600-43515600	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr5:43513600-43515600	Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr5:43513600-43515800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr5:43513800-43515800	Active TSS	iPS-15b Cell Line	embryonic stem cell
8	chr5:43513800-43516000	Active TSS	H9 Cell Line	embryonic stem cell
9	chr5:43513800-43516000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr5:43513800-43516600	Active TSS	GM12878-XiMat	blood
11	chr5:43514000-43515600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
12	chr5:43514000-43515800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
13	chr5:43514000-43515800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr5:43514000-43515800	Active TSS	HMEC	breast
15	chr5:43514000-43515800	Active TSS	K562	blood
16	chr5:43514000-43516000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr5:43514000-43516400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr5:43514200-43515600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr5:43514200-43515600	Active TSS	Brain Inferior Temporal Lobe	brain
20	chr5:43514200-43515600	Active TSS	NHDF-Ad	bronchial
21	chr5:43514200-43515800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr5:43514200-43515800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
23	chr5:43514200-43515800	Active TSS	Pancreatic Islets	Pancreatic Islet
24	chr5:43514200-43515800	Active TSS	A549	lung
25	chr5:43514200-43516000	Flanking Active TSS	Primary hematopoietic stem cells	blood
26	chr5:43514200-43516000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr5:43514200-43516000	Active TSS	Fetal Muscle Trunk	muscle
28	chr5:43514200-43516000	Active TSS	HSMM	muscle
29	chr5:43514200-43516200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr5:43514200-43516200	Active TSS	HUES64 Cell Line	embryonic stem cell
31	chr5:43514200-43516200	Active TSS	iPS-20b Cell Line	embryonic stem cell
32	chr5:43514200-43516200	Active TSS	Right Atrium	heart
33	chr5:43514400-43515400	Active TSS	Hela-S3	cervix
34	chr5:43514400-43515600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr5:43514400-43515600	Active TSS	Fetal Brain Female	brain
36	chr5:43514400-43515600	Active TSS	Fetal Intestine Small	intestine
37	chr5:43514400-43515600	Active TSS	Dnd41	blood
38	chr5:43514400-43515800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr5:43514400-43515800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr5:43514400-43515800	Active TSS	HUES48 Cell Line	embryonic stem cell
41	chr5:43514400-43515800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr5:43514400-43515800	Active TSS	Brain Germinal Matrix	brain
43	chr5:43514400-43515800	Active TSS	Fetal Intestine Large	intestine
44	chr5:43514400-43515800	Active TSS	Stomach Smooth Muscle	stomach
45	chr5:43514400-43515800	Active TSS	Thymus	Thymus
46	chr5:43514400-43515800	Active TSS	HSMMtube	muscle
47	chr5:43514400-43515800	Active TSS	NHEK	skin
48	chr5:43514400-43516000	Active TSS	Fetal Muscle Leg	muscle
49	chr5:43514400-43516000	Active TSS	Psoas Muscle	Psoas
50	chr5:43514400-43516000	Active TSS	Right Ventricle	heart

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