Variant report

Variant	rs546632451
Chromosome Location	chr5:36876670-36876671
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:440)
CpG islands
(count:61)
Chromatin interactive
region (count:29)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:440 , 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	POLR2A	chr5:36876519-36877115	HepG2	liver:	n/a	n/a
2	POLR2A	chr5:36875804-36877812	U87	brain:	n/a	n/a
3	ELF1	chr5:36876520-36877352	K562	blood:	n/a	chr5:36877236-36877248
4	CTCF	chr5:36875894-36876885	K562	blood:	n/a	n/a
5	TCF12	chr5:36876553-36877607	ECC-1	luminal epithelium:	n/a	n/a
6	SIN3AK20	chr5:36875386-36878019	MCF-7	breast:	n/a	n/a
7	POLR2A	chr5:36876078-36877431	PANC-1	pancreas:	n/a	n/a
8	POLR2A	chr5:36875263-36877856	K562	blood:	n/a	n/a
9	MAFK	chr5:36874797-36877186	Hela-S3	cervix:	n/a	chr5:36876864-36876875
10	MAX	chr5:36875925-36877112	MCF-7	breast:	n/a	chr5:36876927-36876937 chr5:36876940-36876950
11	POLR2A	chr5:36875432-36877893	Raji	blood:	n/a	n/a
12	MAX	chr5:36875854-36877065	ECC-1	luminal epithelium:	n/a	chr5:36876927-36876937 chr5:36876940-36876950
13	ELK1	chr5:36876574-36877059	K562	blood:	n/a	chr5:36876857-36876866 chr5:36876857-36876866
14	GABPA	chr5:36876297-36878104	HL-60	blood:	n/a	n/a
15	YY1	chr5:36875871-36877761	GM12878	blood:	n/a	chr5:36877505-36877516 chr5:36876996-36877010 chr5:36876995-36877004
16	POLR2A	chr5:36875884-36877743	ECC-1	luminal epithelium:	n/a	n/a
17	RFX5	chr5:36876605-36876863	HepG2	liver:	n/a	n/a
18	POU2F2	chr5:36876466-36877013	GM12878	blood:	n/a	chr5:36876931-36876943 chr5:36876935-36876947
19	ZKSCAN1	chr5:36875311-36878064	Hela-S3	cervix:	n/a	n/a
20	EGR1	chr5:36876583-36877072	ECC-1	luminal epithelium:	n/a	chr5:36876773-36876787 chr5:36876994-36877003 chr5:36876993-36877006 chr5:36876937-36876947 chr5:36876929-36876942 chr5:36876801-36876815 chr5:36876857-36876866 chr5:36876928-36876938 chr5:36876993-36877006
21	TCF12	chr5:36876482-36877659	ECC-1	luminal epithelium:	n/a	n/a
22	PML	chr5:36876492-36877081	MCF-7	breast:	n/a	n/a
23	POLR2A	chr5:36875919-36877019	GM12891	blood:	n/a	n/a
24	BCL3	chr5:36876631-36876914	GM12878	blood:	n/a	chr5:36876857-36876866
25	TBL1XR1	chr5:36876582-36877364	K562	blood:	n/a	n/a
26	BATF	chr5:36876625-36876916	GM12878	blood:	n/a	n/a
27	CTCF	chr5:36876620-36876770	GM12874	blood:	n/a	n/a
28	POLR2A	chr5:36876449-36877283	SK-N-SH	brain:	n/a	n/a
29	GABPA	chr5:36876339-36877877	Hela-S3	cervix:	n/a	n/a
30	POLR2A	chr5:36875207-36877916	K562	blood:	n/a	n/a
31	POLR2A	chr5:36875228-36876863	K562	blood:	n/a	n/a
32	E2F6	chr5:36876555-36877169	K562	blood:	n/a	chr5:36876821-36876830 chr5:36876821-36876829 chr5:36876822-36876829
33	CREB1	chr5:36876467-36877054	H1-hESC	embryonic stem cell:	n/a	n/a
34	TAF1	chr5:36876592-36877066	MCF-7	breast:	n/a	n/a
35	ELF1	chr5:36876601-36877044	A549	lung:	n/a	n/a
36	YY1	chr5:36876557-36876999	GM12891	blood:	n/a	n/a
37	POU2F2	chr5:36876556-36876949	GM12878	blood:	n/a	chr5:36876931-36876943 chr5:36876935-36876947
38	BACH1	chr5:36875864-36876905	H1-hESC	embryonic stem cell:	n/a	n/a
39	CTCF	chr5:36876600-36876750	K562	blood:	n/a	n/a
40	POLR2A	chr5:36875465-36877825	GM18526	blood:	n/a	n/a
41	GABPA	chr5:36876561-36876980	HepG2	liver:	n/a	n/a
42	TAL1	chr5:36875204-36876861	K562	blood:	n/a	n/a
43	TAF1	chr5:36875844-36877829	H1-neurons	neurons:	n/a	n/a
44	ZC3H11A	chr5:36876562-36877154	K562	blood:	n/a	n/a
45	TAF7	chr5:36876590-36876849	K562	blood:	n/a	n/a
46	REST	chr5:36874597-36878157	H1-neurons	neurons:	n/a	chr5:36877021-36877034
47	POLR2A	chr5:36875273-36877926	NB4	blood:	n/a	n/a
48	EP300	chr5:36875099-36877293	K562	blood:	n/a	chr5:36876858-36876865 chr5:36877284-36877293
49	WRNIP1	chr5:36875382-36876938	GM12878	blood:	n/a	n/a
50	CREB1	chr5:36875815-36877899	HepG2	liver:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:36876667-36876717	SK-N-SH_RA	brain:	n/a
2	chr5:36876667-36876717	HEEpiC	esophagus:	n/a
3	chr5:36876667-36876717	HPAEpiC	pulmonary alveolar:	n/a
4	chr5:36876667-36876717	H1-hESC	embryonic stem cell:	embryo
5	chr5:36876667-36876717	SAEC	small airway:	n/a
6	chr5:36876667-36876717	GM19239	blood:	n/a
7	chr5:36876667-36876717	GM12891	blood:	n/a
8	chr5:36876667-36876717	RPTEC	kidney:	n/a
9	chr5:36876667-36876717	HMEC	breast:	n/a
10	chr5:36876667-36876717	NT2-D1	testis:	n/a
11	chr5:36876667-36876717	T-47D	breast:	n/a
12	chr5:36876667-36876717	NHBE	bronchial:	n/a
13	chr5:36876667-36876717	ProgFib	skin:	n/a
14	chr5:36876667-36876717	AG09309	skin:	n/a
15	chr5:36876667-36876717	BE2_C	brain:	n/a
16	chr5:36876667-36876717	AG04450	lung:	fetal
17	chr5:36876667-36876717	HRE	kidney:	n/a
18	chr5:36876667-36876717	HCM	heart:	n/a
19	chr5:36876667-36876717	K562	blood:	n/a
20	chr5:36876667-36876717	GM12892	blood:	n/a
21	chr5:36876667-36876717	HRPEpiC	eye:	n/a
22	chr5:36876667-36876717	AG09319	gingival:	n/a
23	chr5:36876667-36876717	HCT-116	colon:	n/a
24	chr5:36876667-36876717	U87	brain:	n/a
25	chr5:36876667-36876717	ECC-1	luminal epithelium:	n/a
26	chr5:36876667-36876717	MCF-7	breast:	n/a
27	chr5:36876667-36876717	HNPCEpiC	eye:	n/a
28	chr5:36876667-36876717	ovcar-3	ovarian:	n/a
29	chr5:36876667-36876717	BJ	skin:	n/a
30	chr5:36876667-36876717	GM12878	blood:	n/a
31	chr5:36876667-36876717	AG10803	skin:	n/a
32	chr5:36876667-36876717	Hepatocyte	liver:	n/a
33	chr5:36876667-36876717	PFSK-1	brain:	n/a
34	chr5:36876667-36876717	AG04449	skin:	fetal
35	chr5:36876667-36876717	HEK293	kidney:	embryo
36	chr5:36876667-36876717	PrEC	prostate:	n/a
37	chr5:36876667-36876717	NH-A	brain:	n/a
38	chr5:36876667-36876717	HUVEC	blood vessel:	n/a
39	chr5:36876667-36876717	HepG2	liver:	n/a
40	chr5:36876667-36876717	HRCEpiC	kidney:	n/a
41	chr5:36876667-36876717	HCF	heart:	n/a
42	chr5:36876667-36876717	Hela-S3	cervix:	n/a
43	chr5:36876667-36876717	NHDF-neo	bronchial:	n/a
44	chr5:36876667-36876717	SKMC	muscle:	n/a
45	chr5:36876667-36876717	GM06990	blood:	n/a
46	chr5:36876667-36876717	MCF10A-Er-Src	breast:	n/a
47	chr5:36876667-36876717	A549	lung:	n/a
48	chr5:36876667-36876717	SK-N-MC	brain:	n/a
49	chr5:36876667-36876717	AoSMC	blood vessel:	n/a
50	chr5:36876667-36876717	HCPEpiC	choroid plexus:	n/a

(count:29 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:36842024..36844943-chr5:36873859..36876803,3	K562	blood:
2	chr15:51057662..51059502-chr5:36875365..36877060,2	MCF-7	breast:
3	chr16:284664..285484-chr5:36876389..36877358,2	Hela-S3	cervix:
4	chr12:123717391..123717932-chr5:36876032..36877000,2	Hela-S3	cervix:
5	chr5:36876650..36877236-chr7:99933531..99934342,2	Hela-S3	cervix:
6	chr2:88314948..88316394-chr5:36876338..36877247,3	Hela-S3	cervix:
7	chr5:36860992..36862691-chr5:36875759..36878440,2	K562	blood:
8	chr5:36240939..36242558-chr5:36874591..36876688,2	K562	blood:
9	chr5:36876413..36877387-chr6:32939757..32940537,2	Hela-S3	cervix:
10	chr5:36875375..36878248-chr5:37375352..37377665,2	K562	blood:
11	chr3:128444867..128445573-chr5:36876639..36877272,2	Hela-S3	cervix:
12	chr19:34745458..34746355-chr5:36876285..36876880,2	Hela-S3	cervix:
13	chr13:99228841..99229685-chr5:36876628..36877223,2	Hela-S3	cervix:
14	chr18:11851301..11851864-chr5:36875950..36876805,2	Hela-S3	cervix:
15	chr17:79008801..79009359-chr5:36876376..36876943,2	Hela-S3	cervix:
16	chr5:36747370..36751101-chr5:36873214..36876820,3	K562	blood:
17	chr5:36876342..36877209-chrX:153626319..153627100,2	Hela-S3	cervix:
18	chr17:41277189..41278053-chr5:36876513..36877425,3	NB4	blood:
19	chr15:59665232..59666166-chr5:36875918..36876809,2	Hela-S3	cervix:
20	chr16:25269142..25270109-chr5:36876525..36877151,2	Hela-S3	cervix:
21	chr5:36722181..36727364-chr5:36874838..36878996,5	MCF-7	breast:
22	chr2:10262864..10263458-chr5:36876574..36877166,2	NB4	blood:
23	chr5:36739471..36740387-chr5:36876041..36876823,2	K562	blood:
24	chr17:77812741..77813244-chr5:36876363..36877074,2	NB4	blood:
25	chr18:12947867..12948535-chr5:36876330..36876850,2	Hela-S3	cervix:
26	chr17:57915027..57916783-chr5:36875321..36877865,2	MCF-7	breast:
27	chr10:102820738..102821464-chr5:36876624..36877148,2	Hela-S3	cervix:
28	chr5:36876363..36877049-chr7:39989868..39990637,2	Hela-S3	cervix:
29	chr5:36874693..36876712-chr5:36894953..36896945,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C5orf42-2	chr5:36875773-36876759	ENSG00000248044
2	lnc-C5orf42-2	chr5:36867686-36876860	NONHSAT101045
3	lnc-C5orf42-2	chr5:36871463-36876796	NONHSAT147328

No data

Variant related genes	Relation type
NIPBL	TF binding region
NIPBL	CpG island
ENSG00000224418	Chromatin interaction
ENSG00000138600	Chromatin interaction
ENSG00000065883	Chromatin interaction
ENSG00000155592	Chromatin interaction
ENSG00000147403	Chromatin interaction
ENSG00000051825	Chromatin interaction
ENSG00000130921	Chromatin interaction
ENSG00000204256	Chromatin interaction
ENSG00000250155	Chromatin interaction
ENSG00000152620	Chromatin interaction
ENSG00000175866	Chromatin interaction
ENSG00000255112	Chromatin interaction
ENSG00000075785	Chromatin interaction
ENSG00000012048	Chromatin interaction
ENSG00000102572	Chromatin interaction
ENSG00000198496	Chromatin interaction
ENSG00000141582	Chromatin interaction
ENSG00000242294	Chromatin interaction
ENSG00000222724	Chromatin interaction
ENSG00000273162	Chromatin interaction
ENSG00000272752	Chromatin interaction
ENSG00000085415	Chromatin interaction
ENSG00000272103	Chromatin interaction
ENSG00000250455	Chromatin interaction
ENSG00000062716	Chromatin interaction
ENSG00000167930	Chromatin interaction
ENSG00000166398	Chromatin interaction
ENSG00000171848	Chromatin interaction
ENSG00000121716	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	nsv492319	chr5:36570707-37061019	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv525478	chr5:36804225-37349895	Strong transcription Transcr. at gene 5' and 3' Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
3	nsv532133	chr5:36834932-36906436	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
4	esv1793961	chr5:36866835-37361728	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
5	esv3426261	chr5:36876045-36878243	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:36872800-36881400	Active TSS	GM12878-XiMat	blood
2	chr5:36873400-36879400	Active TSS	Ovary	ovary
3	chr5:36874000-36878800	Active TSS	Psoas Muscle	Psoas
4	chr5:36874000-36879400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr5:36874000-36879400	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr5:36874000-36879400	Active TSS	Right Atrium	heart
7	chr5:36874200-36879200	Active TSS	HUES48 Cell Line	embryonic stem cell
8	chr5:36874200-36879800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr5:36874400-36879800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr5:36874400-36880000	Active TSS	Fetal Brain Female	brain
11	chr5:36874600-36879200	Active TSS	Fetal Muscle Trunk	muscle
12	chr5:36874600-36879400	Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr5:36874600-36879400	Active TSS	Fetal Muscle Leg	muscle
14	chr5:36874600-36879400	Active TSS	Right Ventricle	heart
15	chr5:36874600-36879600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr5:36874600-36879800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr5:36874800-36878200	Active TSS	Fetal Brain Male	brain
18	chr5:36874800-36878400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr5:36874800-36878800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
20	chr5:36874800-36878800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr5:36874800-36879000	Active TSS	Left Ventricle	heart
22	chr5:36874800-36879200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr5:36874800-36879200	Active TSS	H9 Cell Line	embryonic stem cell
24	chr5:36874800-36879400	Active TSS	Aorta	Aorta
25	chr5:36874800-36879600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr5:36874800-36879600	Active TSS	HSMMtube	muscle
27	chr5:36874800-36879800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr5:36874800-36879800	Active TSS	NHDF-Ad	bronchial
29	chr5:36874800-36880400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr5:36874800-36881000	Active TSS	K562	blood
31	chr5:36875000-36878400	Active TSS	iPS-18 Cell Line	embryonic stem cell
32	chr5:36875000-36878400	Active TSS	Brain Anterior Caudate	brain
33	chr5:36875000-36878400	Active TSS	Fetal Heart	heart
34	chr5:36875000-36878400	Active TSS	Rectal Smooth Muscle	rectum
35	chr5:36875000-36878400	Active TSS	Skeletal Muscle Male	skeletal muscle
36	chr5:36875000-36878600	Active TSS	Brain Substantia Nigra	brain
37	chr5:36875000-36878800	Active TSS	Brain Angular Gyrus	brain
38	chr5:36875000-36879400	Active TSS	HUES64 Cell Line	embryonic stem cell
39	chr5:36875000-36879400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
40	chr5:36875000-36879400	Active TSS	Fetal Intestine Small	intestine
41	chr5:36875000-36879400	Active TSS	Fetal Stomach	stomach
42	chr5:36875000-36879400	Active TSS	HSMM	muscle
43	chr5:36875000-36879600	Active TSS	Muscle Satellite Cultured Cells	--
44	chr5:36875000-36879800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr5:36875000-36879800	Active TSS	HUES6 Cell Line	embryonic stem cell
46	chr5:36875000-36880000	Active TSS	NHLF	lung
47	chr5:36875000-36880600	Active TSS	Breast Myoepithelial Primary Cells	Breast
48	chr5:36875000-36881000	Active TSS	HMEC	breast
49	chr5:36875200-36876800	Bivalent/Poised TSS	HepG2	liver
50	chr5:36875200-36878000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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