Variant report

Variant	rs59761392
Chromosome Location	chr5:36876418-36876419
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	POLR2A	chr5:36875804-36877812	U87	brain:	n/a	n/a
2	CTCF	chr5:36875894-36876885	K562	blood:	n/a	n/a
3	SIN3AK20	chr5:36875386-36878019	MCF-7	breast:	n/a	n/a
4	JUND	chr5:36875923-36876509	A549	lung:	n/a	n/a
5	POLR2A	chr5:36876078-36877431	PANC-1	pancreas:	n/a	n/a
6	POLR2A	chr5:36875263-36877856	K562	blood:	n/a	n/a
7	MAFK	chr5:36874797-36877186	Hela-S3	cervix:	n/a	chr5:36876864-36876875
8	MAX	chr5:36875925-36877112	MCF-7	breast:	n/a	chr5:36876927-36876937 chr5:36876940-36876950
9	POLR2A	chr5:36875432-36877893	Raji	blood:	n/a	n/a
10	MAX	chr5:36875854-36877065	ECC-1	luminal epithelium:	n/a	chr5:36876927-36876937 chr5:36876940-36876950
11	GABPA	chr5:36876297-36878104	HL-60	blood:	n/a	n/a
12	YY1	chr5:36875871-36877761	GM12878	blood:	n/a	chr5:36877505-36877516 chr5:36876996-36877010 chr5:36876995-36877004
13	POLR2A	chr5:36875884-36877743	ECC-1	luminal epithelium:	n/a	n/a
14	ZKSCAN1	chr5:36875311-36878064	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr5:36876027-36876440	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr5:36875919-36877019	GM12891	blood:	n/a	n/a
17	GABPA	chr5:36876339-36877877	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr5:36875207-36877916	K562	blood:	n/a	n/a
19	POLR2A	chr5:36875228-36876863	K562	blood:	n/a	n/a
20	BACH1	chr5:36875864-36876905	H1-hESC	embryonic stem cell:	n/a	n/a
21	CTCF	chr5:36875974-36876444	Fibrobl	skin:	n/a	n/a
22	POLR2A	chr5:36875465-36877825	GM18526	blood:	n/a	n/a
23	CTCF	chr5:36876300-36876450	Caco-2	colon:	n/a	n/a
24	TAL1	chr5:36875204-36876861	K562	blood:	n/a	n/a
25	TAF1	chr5:36875844-36877829	H1-neurons	neurons:	n/a	n/a
26	REST	chr5:36874597-36878157	H1-neurons	neurons:	n/a	chr5:36877021-36877034
27	POLR2A	chr5:36875273-36877926	NB4	blood:	n/a	n/a
28	EP300	chr5:36875099-36877293	K562	blood:	n/a	chr5:36876858-36876865 chr5:36877284-36877293
29	WRNIP1	chr5:36875382-36876938	GM12878	blood:	n/a	n/a
30	CREB1	chr5:36875815-36877899	HepG2	liver:	n/a	n/a
31	YY1	chr5:36875981-36877014	A549	lung:	n/a	chr5:36876996-36877010 chr5:36876995-36877004
32	SIN3AK20	chr5:36876398-36877839	PANC-1	pancreas:	n/a	n/a
33	STAT5A	chr5:36875875-36876995	GM12878	blood:	n/a	chr5:36876928-36876940
34	RELA	chr5:36875793-36877006	GM10847	blood:	n/a	n/a
35	TCF7L2	chr5:36876059-36876913	PANC-1	pancreas:	n/a	n/a
36	TCF7L2	chr5:36875401-36877756	Hela-S3	cervix:	n/a	n/a
37	ETS1	chr5:36876370-36877292	K562	blood:	n/a	chr5:36876857-36876866 chr5:36876856-36876869 chr5:36876857-36876866 chr5:36876855-36876866 chr5:36876857-36876866 chr5:36876854-36876870 chr5:36876857-36876866 chr5:36876857-36876866 chr5:36876857-36876866 chr5:36876855-36876865 chr5:36876857-36876866 chr5:36876935-36876946
38	POLR2A	chr5:36875387-36877829	GM12892	blood:	n/a	n/a
39	POLR2A	chr5:36875306-36877360	K562	blood:	n/a	n/a
40	PML	chr5:36875741-36877381	K562	blood:	n/a	n/a
41	POLR2A	chr5:36876344-36877091	HUVEC	blood vessel:	n/a	n/a
42	POLR2A	chr5:36875907-36876434	SK-N-SH	brain:	n/a	n/a
43	POLR2A	chr5:36875438-36877027	GM12878	blood:	n/a	n/a
44	POLR2A	chr5:36875866-36877841	HL-60	blood:	n/a	n/a
45	TAF1	chr5:36875796-36877760	K562	blood:	n/a	n/a
46	POLR2A	chr5:36875863-36877416	HL-60	blood:	n/a	n/a
47	EP300	chr5:36875999-36877284	GM12878	blood:	n/a	chr5:36876858-36876865
48	GABPA	chr5:36876404-36877079	H1-hESC	embryonic stem cell:	n/a	n/a
49	HA-E2F1	chr5:36875211-36877859	MCF-7	breast:	n/a	chr5:36875516-36875525 chr5:36876821-36876830 chr5:36876822-36876829
50	MTA3	chr5:36875095-36878278	GM12878	blood:	n/a	n/a

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	chr2:88314948..88316394-chr5:36876338..36877247,3	Hela-S3	cervix:
6	chr5:36860992..36862691-chr5:36875759..36878440,2	K562	blood:
7	chr5:36240939..36242558-chr5:36874591..36876688,2	K562	blood:
8	chr5:36876413..36877387-chr6:32939757..32940537,2	Hela-S3	cervix:
9	chr5:36875375..36878248-chr5:37375352..37377665,2	K562	blood:
10	chr19:34745458..34746355-chr5:36876285..36876880,2	Hela-S3	cervix:
11	chr18:11851301..11851864-chr5:36875950..36876805,2	Hela-S3	cervix:
12	chr17:79008801..79009359-chr5:36876376..36876943,2	Hela-S3	cervix:
13	chr5:36747370..36751101-chr5:36873214..36876820,3	K562	blood:
14	chr5:36876342..36877209-chrX:153626319..153627100,2	Hela-S3	cervix:
15	chr15:59665232..59666166-chr5:36875918..36876809,2	Hela-S3	cervix:
16	chr5:36729106..36729682-chr5:36875624..36876637,3	MCF-7	breast:
17	chr5:36722181..36727364-chr5:36874838..36878996,5	MCF-7	breast:
18	chr5:36874203..36876610-chr5:36934732..36937213,2	MCF-7	breast:
19	chr5:36739471..36740387-chr5:36876041..36876823,2	K562	blood:
20	chr17:77812741..77813244-chr5:36876363..36877074,2	NB4	blood:
21	chr5:36739352..36740196-chr5:36875690..36876608,3	MCF-7	breast:
22	chr18:12947867..12948535-chr5:36876330..36876850,2	Hela-S3	cervix:
23	chr14:103540517..103541377-chr5:36875924..36876649,2	Hela-S3	cervix:
24	chr17:57915027..57916783-chr5:36875321..36877865,2	MCF-7	breast:
25	chr5:36876363..36877049-chr7:39989868..39990637,2	Hela-S3	cervix:
26	chr5:36874693..36876712-chr5:36894953..36896945,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C5orf42-2	chr5:36875773-36876759	ENSG00000248044
2	lnc-NIPBL-1	chr5:36874735-36876605	XLOC_004339
3	lnc-C5orf42-2	chr5:36867686-36876860	NONHSAT101045
4	lnc-C5orf42-2	chr5:36871463-36876796	NONHSAT147328

Variant related genes	Relation type
NIPBL	TF binding region
ENSG00000051825	Chromatin interaction
ENSG00000152620	Chromatin interaction
ENSG00000167930	Chromatin interaction
ENSG00000147403	Chromatin interaction
ENSG00000166398	Chromatin interaction
ENSG00000085415	Chromatin interaction
ENSG00000255112	Chromatin interaction
ENSG00000272103	Chromatin interaction
ENSG00000065883	Chromatin interaction
ENSG00000250155	Chromatin interaction
ENSG00000141582	Chromatin interaction
ENSG00000062716	Chromatin interaction
ENSG00000250455	Chromatin interaction
ENSG00000138600	Chromatin interaction
ENSG00000175866	Chromatin interaction
ENSG00000130921	Chromatin interaction
ENSG00000222724	Chromatin interaction
ENSG00000204256	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs35669520	1.00[ASN][1000 genomes]
rs6887511	0.85[AFR][1000 genomes]

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	chr5:36873800-36876600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr5:36874000-36878800	Active TSS	Psoas Muscle	Psoas
5	chr5:36874000-36879400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr5:36874000-36879400	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr5:36874000-36879400	Active TSS	Right Atrium	heart
8	chr5:36874200-36879200	Active TSS	HUES48 Cell Line	embryonic stem cell
9	chr5:36874200-36879800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr5:36874400-36879800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr5:36874400-36880000	Active TSS	Fetal Brain Female	brain
12	chr5:36874600-36879200	Active TSS	Fetal Muscle Trunk	muscle
13	chr5:36874600-36879400	Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr5:36874600-36879400	Active TSS	Fetal Muscle Leg	muscle
15	chr5:36874600-36879400	Active TSS	Right Ventricle	heart
16	chr5:36874600-36879600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr5:36874600-36879800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr5:36874800-36878200	Active TSS	Fetal Brain Male	brain
19	chr5:36874800-36878400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr5:36874800-36878800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
21	chr5:36874800-36878800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr5:36874800-36879000	Active TSS	Left Ventricle	heart
23	chr5:36874800-36879200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr5:36874800-36879200	Active TSS	H9 Cell Line	embryonic stem cell
25	chr5:36874800-36879400	Active TSS	Aorta	Aorta
26	chr5:36874800-36879600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr5:36874800-36879600	Active TSS	HSMMtube	muscle
28	chr5:36874800-36879800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr5:36874800-36879800	Active TSS	NHDF-Ad	bronchial
30	chr5:36874800-36880400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr5:36874800-36881000	Active TSS	K562	blood
32	chr5:36875000-36878400	Active TSS	iPS-18 Cell Line	embryonic stem cell
33	chr5:36875000-36878400	Active TSS	Brain Anterior Caudate	brain
34	chr5:36875000-36878400	Active TSS	Fetal Heart	heart
35	chr5:36875000-36878400	Active TSS	Rectal Smooth Muscle	rectum
36	chr5:36875000-36878400	Active TSS	Skeletal Muscle Male	skeletal muscle
37	chr5:36875000-36878600	Active TSS	Brain Substantia Nigra	brain
38	chr5:36875000-36878800	Active TSS	Brain Angular Gyrus	brain
39	chr5:36875000-36879400	Active TSS	HUES64 Cell Line	embryonic stem cell
40	chr5:36875000-36879400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
41	chr5:36875000-36879400	Active TSS	Fetal Intestine Small	intestine
42	chr5:36875000-36879400	Active TSS	Fetal Stomach	stomach
43	chr5:36875000-36879400	Active TSS	HSMM	muscle
44	chr5:36875000-36879600	Active TSS	Muscle Satellite Cultured Cells	--
45	chr5:36875000-36879800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr5:36875000-36879800	Active TSS	HUES6 Cell Line	embryonic stem cell
47	chr5:36875000-36880000	Active TSS	NHLF	lung
48	chr5:36875000-36880600	Active TSS	Breast Myoepithelial Primary Cells	Breast
49	chr5:36875000-36881000	Active TSS	HMEC	breast
50	chr5:36875200-36876800	Bivalent/Poised TSS	HepG2	liver

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