Variant report

Variant	rs10066734
Chromosome Location	chr5:36875575-36875576
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:149)
CpG islands
(count:61)
Chromatin interactive
region (count:14)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:149 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr5:36874760-36875801	K562	blood:	n/a	n/a
2	SIN3AK20	chr5:36875386-36878019	MCF-7	breast:	n/a	n/a
3	POLR2A	chr5:36875263-36877856	K562	blood:	n/a	n/a
4	MAFK	chr5:36874797-36877186	Hela-S3	cervix:	n/a	chr5:36876864-36876875
5	POLR2A	chr5:36875432-36877893	Raji	blood:	n/a	n/a
6	PML	chr5:36875149-36876410	K562	blood:	n/a	n/a
7	ZKSCAN1	chr5:36875311-36878064	Hela-S3	cervix:	n/a	n/a
8	MAZ	chr5:36874966-36875793	IMR90	lung:	n/a	chr5:36875517-36875527 chr5:36875521-36875531
9	TBL1XR1	chr5:36875235-36876281	GM12878	blood:	n/a	n/a
10	POLR2A	chr5:36875334-36875829	GM12892	blood:	n/a	n/a
11	TAF1	chr5:36875326-36875694	K562	blood:	n/a	n/a
12	RFX5	chr5:36875466-36875610	HepG2	liver:	n/a	n/a
13	YY1	chr5:36875348-36875764	GM12878	blood:	n/a	n/a
14	BACH1	chr5:36875421-36875622	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr5:36875207-36877916	K562	blood:	n/a	n/a
16	POLR2A	chr5:36875228-36876863	K562	blood:	n/a	n/a
17	POLR2A	chr5:36875364-36875685	GM12878	blood:	n/a	n/a
18	TAF1	chr5:36875401-36875702	K562	blood:	n/a	n/a
19	POLR2A	chr5:36875465-36877825	GM18526	blood:	n/a	n/a
20	TAL1	chr5:36875204-36876861	K562	blood:	n/a	n/a
21	POLR2A	chr5:36875491-36875590	MCF10A-Er-Src	breast:	n/a	n/a
22	REST	chr5:36874597-36878157	H1-neurons	neurons:	n/a	chr5:36877021-36877034
23	POLR2A	chr5:36875273-36877926	NB4	blood:	n/a	n/a
24	EP300	chr5:36875099-36877293	K562	blood:	n/a	chr5:36876858-36876865 chr5:36877284-36877293
25	WRNIP1	chr5:36875382-36876938	GM12878	blood:	n/a	n/a
26	CHD2	chr5:36875248-36875664	Hela-S3	cervix:	n/a	n/a
27	TCF7L2	chr5:36875401-36877756	Hela-S3	cervix:	n/a	n/a
28	POLR2A	chr5:36875387-36877829	GM12892	blood:	n/a	n/a
29	POLR2A	chr5:36875306-36877360	K562	blood:	n/a	n/a
30	YY1	chr5:36875407-36875697	K562	blood:	n/a	n/a
31	POLR2A	chr5:36875438-36877027	GM12878	blood:	n/a	n/a
32	HA-E2F1	chr5:36875211-36877859	MCF-7	breast:	n/a	chr5:36875516-36875525 chr5:36876821-36876830 chr5:36876822-36876829
33	MTA3	chr5:36875095-36878278	GM12878	blood:	n/a	n/a
34	RCOR1	chr5:36875152-36877746	K562	blood:	n/a	n/a
35	MAX	chr5:36874691-36879432	Hela-S3	cervix:	n/a	chr5:36875517-36875527 chr5:36876927-36876937 chr5:36875521-36875531 chr5:36877146-36877156 chr5:36876940-36876950
36	TAF1	chr5:36875361-36875789	Hela-S3	cervix:	n/a	n/a
37	POLR2A	chr5:36875111-36878682	GM12878	blood:	n/a	n/a
38	HDAC2	chr5:36875183-36875666	K562	blood:	n/a	n/a
39	POLR2A	chr5:36875513-36875600	H1-hESC	embryonic stem cell:	n/a	n/a
40	TBP	chr5:36874688-36877878	K562	blood:	n/a	n/a
41	MAX	chr5:36875267-36878663	NB4	blood:	n/a	chr5:36875517-36875527 chr5:36876927-36876937 chr5:36875521-36875531 chr5:36877146-36877156 chr5:36876940-36876950
42	RAD21	chr5:36875407-36876377	IMR90	lung:	n/a	n/a
43	MAZ	chr5:36875080-36878164	GM12878	blood:	n/a	chr5:36875517-36875527 chr5:36876927-36876937 chr5:36875521-36875531 chr5:36877146-36877156 chr5:36876940-36876950
44	POLR2A	chr5:36875400-36877799	U87	brain:	n/a	n/a
45	POLR2A	chr5:36873974-36878996	MCF10A-Er-Src	breast:	n/a	n/a
46	POLR2A	chr5:36875179-36875779	K562	blood:	n/a	n/a
47	TEAD4	chr5:36875091-36876262	K562	blood:	n/a	n/a
48	ZMIZ1	chr5:36875095-36877697	K562	blood:	n/a	n/a
49	POLR2A	chr5:36875223-36875829	GM12878	blood:	n/a	n/a
50	MXI1	chr5:36874570-36876376	GM12878	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:36875537-36875587	K562	blood:	n/a
2	chr5:36875537-36875587	BE2_C	brain:	n/a
3	chr5:36875537-36875587	HCPEpiC	choroid plexus:	n/a
4	chr5:36875537-36875587	HAEpiC	amniotic membrane:	n/a
5	chr5:36875537-36875587	BJ	skin:	n/a
6	chr5:36875537-36875587	HEEpiC	esophagus:	n/a
7	chr5:36875537-36875587	T-47D	breast:	n/a
8	chr5:36875537-36875587	U87	brain:	n/a
9	chr5:36875537-36875587	Jurkat	blood:	n/a
10	chr5:36875537-36875587	HRCEpiC	kidney:	n/a
11	chr5:36875537-36875587	ProgFib	skin:	n/a
12	chr5:36875537-36875587	SAEC	small airway:	n/a
13	chr5:36875537-36875587	HNPCEpiC	eye:	n/a
14	chr5:36875537-36875587	PFSK-1	brain:	n/a
15	chr5:36875537-36875587	CMK	blood:	n/a
16	chr5:36875537-36875587	MCF-7	breast:	n/a
17	chr5:36875537-36875587	HepG2	liver:	n/a
18	chr5:36875537-36875587	NHBE	bronchial:	n/a
19	chr5:36875537-36875587	AG04450	lung:	fetal
20	chr5:36875537-36875587	SKMC	muscle:	n/a
21	chr5:36875537-36875587	HPAEpiC	pulmonary alveolar:	n/a
22	chr5:36875537-36875587	HRE	kidney:	n/a
23	chr5:36875537-36875587	Caco-2	colon:	n/a
24	chr5:36875537-36875587	NT2-D1	testis:	n/a
25	chr5:36875537-36875587	NB4	blood:	n/a
26	chr5:36875537-36875587	SK-N-MC	brain:	n/a
27	chr5:36875537-36875587	GM06990	blood:	n/a
28	chr5:36875537-36875587	IMR90	lung:	fetal
29	chr5:36875537-36875587	AG09319	gingival:	n/a
30	chr5:36875537-36875587	LNCaP	prostate:	n/a
31	chr5:36875537-36875587	Hela-S3	cervix:	n/a
32	chr5:36875537-36875587	RPTEC	kidney:	n/a
33	chr5:36875537-36875587	HEK293	kidney:	embryo
34	chr5:36875537-36875587	GM12891	blood:	n/a
35	chr5:36875537-36875587	AoSMC	blood vessel:	n/a
36	chr5:36875537-36875587	Hepatocyte	liver:	n/a
37	chr5:36875537-36875587	NH-A	brain:	n/a
38	chr5:36875537-36875587	PrEC	prostate:	n/a
39	chr5:36875537-36875587	HCF	heart:	n/a
40	chr5:36875537-36875587	HMEC	breast:	n/a
41	chr5:36875537-36875587	AG04449	skin:	fetal
42	chr5:36875537-36875587	AG10803	skin:	n/a
43	chr5:36875537-36875587	GM19239	blood:	n/a
44	chr5:36875537-36875587	PANC-1	pancreas:	n/a
45	chr5:36875537-36875587	HIPEpiC	eye:	n/a
46	chr5:36875537-36875587	H1-hESC	embryonic stem cell:	embryo
47	chr5:36875537-36875587	ovcar-3	ovarian:	n/a
48	chr5:36875537-36875587	AG09309	skin:	n/a
49	chr5:36875537-36875587	NHDF-neo	bronchial:	n/a
50	chr5:36875537-36875587	HRPEpiC	eye:	n/a

(count:14 , 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	chr5:36777373..36779388-chr5:36874708..36876280,2	MCF-7	breast:
4	chr5:36874005..36875680-chr5:36879007..36880824,2	MCF-7	breast:
5	chr5:36240939..36242558-chr5:36874591..36876688,2	K562	blood:
6	chr5:36875375..36878248-chr5:37375352..37377665,2	K562	blood:
7	chr11:17098992..17099642-chr5:36875283..36876218,2	HCT-116	colon:
8	chr5:36752966..36755590-chr5:36874213..36876104,2	K562	blood:
9	chr5:36747370..36751101-chr5:36873214..36876820,3	K562	blood:
10	chr5:36722181..36727364-chr5:36874838..36878996,5	MCF-7	breast:
11	chr5:36874203..36876610-chr5:36934732..36937213,2	MCF-7	breast:
12	chr5:36873234..36875731-chr5:36921521..36923722,2	K562	blood:
13	chr17:57915027..57916783-chr5:36875321..36877865,2	MCF-7	breast:
14	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-NIPBL-1	chr5:36874735-36876605	XLOC_004339
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
ENSG00000110700	Chromatin interaction
ENSG00000250155	Chromatin interaction
ENSG00000250455	Chromatin interaction
ENSG00000152620	Chromatin interaction
ENSG00000138600	Chromatin interaction
ENSG00000062716	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10038294	1.00[AMR][1000 genomes]
rs149459	1.00[AMR][1000 genomes]
rs28417715	1.00[AMR][1000 genomes]
rs294694	1.00[AMR][1000 genomes]
rs300050	1.00[AMR][1000 genomes]
rs59063665	1.00[AMR][1000 genomes]
rs60014337	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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

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	chr5:36873400-36875600	Flanking Active TSS	Dnd41	blood
3	chr5:36873400-36879400	Active TSS	Ovary	ovary
4	chr5:36873800-36876600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr5:36874000-36875600	Flanking Active TSS	HUVEC	blood vessel
6	chr5:36874000-36876000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
7	chr5:36874000-36878800	Active TSS	Psoas Muscle	Psoas
8	chr5:36874000-36879400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr5:36874000-36879400	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr5:36874000-36879400	Active TSS	Right Atrium	heart
11	chr5:36874200-36879200	Active TSS	HUES48 Cell Line	embryonic stem cell
12	chr5:36874200-36879800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr5:36874400-36875800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
14	chr5:36874400-36876000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
15	chr5:36874400-36876000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr5:36874400-36879800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr5:36874400-36880000	Active TSS	Fetal Brain Female	brain
18	chr5:36874600-36875600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
19	chr5:36874600-36879200	Active TSS	Fetal Muscle Trunk	muscle
20	chr5:36874600-36879400	Active TSS	ES-I3 Cell Line	embryonic stem cell
21	chr5:36874600-36879400	Active TSS	Fetal Muscle Leg	muscle
22	chr5:36874600-36879400	Active TSS	Right Ventricle	heart
23	chr5:36874600-36879600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr5:36874600-36879800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr5:36874800-36875600	Flanking Active TSS	Duodenum Mucosa	Duodenum
26	chr5:36874800-36875600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
27	chr5:36874800-36875800	Flanking Active TSS	Primary hematopoietic stem cells	blood
28	chr5:36874800-36875800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
29	chr5:36874800-36875800	Flanking Active TSS	Adipose Nuclei	Adipose
30	chr5:36874800-36875800	Flanking Active TSS	Liver	Liver
31	chr5:36874800-36876000	Flanking Active TSS	Primary B cells from cord blood	blood
32	chr5:36874800-36878200	Active TSS	Fetal Brain Male	brain
33	chr5:36874800-36878400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr5:36874800-36878800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
35	chr5:36874800-36878800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr5:36874800-36879000	Active TSS	Left Ventricle	heart
37	chr5:36874800-36879200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr5:36874800-36879200	Active TSS	H9 Cell Line	embryonic stem cell
39	chr5:36874800-36879400	Active TSS	Aorta	Aorta
40	chr5:36874800-36879600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr5:36874800-36879600	Active TSS	HSMMtube	muscle
42	chr5:36874800-36879800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr5:36874800-36879800	Active TSS	NHDF-Ad	bronchial
44	chr5:36874800-36880400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr5:36874800-36881000	Active TSS	K562	blood
46	chr5:36875000-36876200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr5:36875000-36876200	Active TSS	Brain Germinal Matrix	brain
48	chr5:36875000-36878400	Active TSS	iPS-18 Cell Line	embryonic stem cell
49	chr5:36875000-36878400	Active TSS	Brain Anterior Caudate	brain
50	chr5:36875000-36878400	Active TSS	Fetal Heart	heart

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