Variant report

Variant	rs66697623
Chromosome Location	chr5:142785173-142785174
allele	C/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	RELA	chr5:142784581-142785436	GM19099	blood:	n/a	n/a
2	YY1	chr5:142784944-142785533	GM12878	blood:	n/a	chr5:142785199-142785209 chr5:142785026-142785038 chr5:142784983-142785005 chr5:142785020-142785029 chr5:142784981-142785000 chr5:142785199-142785221 chr5:142784983-142784993 chr5:142785202-142785210 chr5:142784980-142785000 chr5:142785025-142785042 chr5:142785027-142785049 chr5:142784986-142784994 chr5:142785197-142785216 chr5:142785200-142785208 chr5:142784984-142784992 chr5:142784979-142784988 chr5:142785197-142785214
3	ZNF143	chr5:142784856-142785377	H1-hESC	embryonic stem cell:	n/a	chr5:142785333-142785351
4	NFIC	chr5:142784706-142785374	HepG2	liver:	n/a	n/a
5	RUNX3	chr5:142782574-142785511	GM12878	blood:	n/a	n/a
6	POLR2A	chr5:142783433-142785544	GM12892	blood:	n/a	n/a
7	POLR2A	chr5:142783440-142785264	SK-N-SH	brain:	n/a	n/a
8	MAX	chr5:142781440-142785469	A549	lung:	n/a	chr5:142784085-142784095 chr5:142782756-142782766 chr5:142783623-142783633
9	RUNX3	chr5:142782899-142785421	GM12878	blood:	n/a	n/a
10	NR2F2	chr5:142782460-142785308	MCF-7	breast:	n/a	n/a
11	EBF1	chr5:142784519-142785445	GM12878	blood:	n/a	n/a
12	CREB1	chr5:142782966-142785452	HepG2	liver:	n/a	n/a
13	POLR2A	chr5:142782015-142785534	Raji	blood:	n/a	n/a
14	MYC	chr5:142785003-142785414	MCF10A-Er-Src	breast:	n/a	n/a
15	MAX	chr5:142782994-142785396	SK-N-SH	brain:	n/a	chr5:142784085-142784095 chr5:142783623-142783633
16	ELF1	chr5:142784132-142785549	GM12878	blood:	n/a	chr5:142784642-142784654 chr5:142784968-142784977
17	MAZ	chr5:142781351-142785732	IMR90	lung:	n/a	chr5:142784085-142784095 chr5:142782756-142782766 chr5:142783623-142783633
18	POLR2A	chr5:142784097-142785448	U87	brain:	n/a	n/a
19	FOXM1	chr5:142782727-142785429	GM12878	blood:	n/a	n/a
20	TAF1	chr5:142784795-142785325	H1-hESC	embryonic stem cell:	n/a	n/a
21	SIX5	chr5:142784856-142785360	K562	blood:	n/a	n/a
22	EP300	chr5:142784874-142785442	HepG2	liver:	n/a	n/a
23	ZC3H11A	chr5:142784763-142785460	K562	blood:	n/a	n/a
24	RFX5	chr5:142784446-142785419	GM12878	blood:	n/a	chr5:142785313-142785328
25	POLR2A	chr5:142779195-142785402	GM12878	blood:	n/a	n/a
26	YY1	chr5:142784054-142785583	GM12878	blood:	n/a	chr5:142785199-142785209 chr5:142784112-142784121 chr5:142785026-142785038 chr5:142784983-142785005 chr5:142785020-142785029 chr5:142784981-142785000 chr5:142785199-142785221 chr5:142784983-142784993 chr5:142785202-142785210 chr5:142784980-142785000 chr5:142784159-142784170 chr5:142784113-142784124 chr5:142785025-142785042 chr5:142785027-142785049 chr5:142784112-142784126 chr5:142784986-142784994 chr5:142785197-142785216 chr5:142784115-142784124 chr5:142785200-142785208 chr5:142784984-142784992 chr5:142784979-142784988 chr5:142784471-142784482 chr5:142785197-142785214
27	GATA3	chr5:142779543-142785341	A549	lung:	n/a	chr5:142781692-142781713 chr5:142781699-142781708 chr5:142781698-142781708 chr5:142784454-142784463 chr5:142783912-142783921
28	RAD21	chr5:142783014-142785308	A549	lung:	n/a	chr5:142784270-142784280 chr5:142784982-142784994
29	E2F6	chr5:142783947-142785434	H1-hESC	embryonic stem cell:	n/a	chr5:142784274-142784284 chr5:142784113-142784123 chr5:142784837-142784847 chr5:142784979-142784988 chr5:142784135-142784145 chr5:142784011-142784021 chr5:142784014-142784024 chr5:142784116-142784126
30	MYC	chr5:142784858-142785310	HepG2	liver:	n/a	n/a
31	E2F6	chr5:142784747-142785412	A549	lung:	n/a	chr5:142784837-142784847 chr5:142784979-142784988
32	POLR2A	chr5:142781414-142785497	GM19099	blood:	n/a	n/a
33	EP300	chr5:142784621-142785321	GM12878	blood:	n/a	n/a
34	GTF2F1	chr5:142784807-142785198	H1-hESC	embryonic stem cell:	n/a	n/a
35	ELF1	chr5:142784726-142785374	A549	lung:	n/a	chr5:142784968-142784977
36	CCNT2	chr5:142784568-142785435	K562	blood:	n/a	n/a
37	ZMIZ1	chr5:142784250-142785431	K562	blood:	n/a	n/a
38	CREB1	chr5:142782875-142785289	GM12878	blood:	n/a	n/a
39	SIN3A	chr5:142781546-142785438	H1-hESC	embryonic stem cell:	n/a	chr5:142783743-142783754 chr5:142784644-142784657 chr5:142783626-142783637 chr5:142783624-142783637 chr5:142784366-142784379
40	MAZ	chr5:142784743-142785319	HepG2	liver:	n/a	n/a
41	MAX	chr5:142781498-142785442	K562	blood:	n/a	chr5:142784085-142784095 chr5:142782756-142782766 chr5:142783623-142783633
42	IRF4	chr5:142784558-142785195	GM12878	blood:	n/a	n/a
43	ZNF143	chr5:142783105-142785413	GM12878	blood:	n/a	chr5:142785333-142785351 chr5:142784837-142784847 chr5:142784059-142784077 chr5:142784653-142784671
44	YY1	chr5:142784712-142785552	GM12892	blood:	n/a	chr5:142785199-142785209 chr5:142785026-142785038 chr5:142784983-142785005 chr5:142785020-142785029 chr5:142784981-142785000 chr5:142785199-142785221 chr5:142784983-142784993 chr5:142785202-142785210 chr5:142784980-142785000 chr5:142785025-142785042 chr5:142785027-142785049 chr5:142784986-142784994 chr5:142785197-142785216 chr5:142785200-142785208 chr5:142784984-142784992 chr5:142784979-142784988 chr5:142785197-142785214
45	HEY1	chr5:142784212-142785257	HepG2	liver:	n/a	n/a
46	CBX3	chr5:142783634-142785677	K562	blood:	n/a	n/a
47	POLR2A	chr5:142782824-142785417	PFSK-1	brain:	n/a	n/a
48	ETS1	chr5:142784685-142785247	K562	blood:	n/a	chr5:142784970-142784980
49	POLR2A	chr5:142784376-142785361	HepG2	liver:	n/a	n/a
50	POLR2A	chr5:142779252-142785530	Hela-S3	cervix:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:142785172-142785222	HAEpiC	amniotic membrane:	n/a
2	chr5:142785172-142785222	HPAEpiC	pulmonary alveolar:	n/a
3	chr5:142785172-142785222	H1-hESC	embryonic stem cell:	embryo
4	chr5:142785172-142785222	HL-60	blood:	n/a
5	chr5:142785172-142785222	SK-N-SH_RA	brain:	n/a
6	chr5:142785172-142785222	NH-A	brain:	n/a
7	chr5:142785172-142785222	IMR90	lung:	fetal
8	chr5:142785172-142785222	NHBE	bronchial:	n/a
9	chr5:142785172-142785222	GM12878	blood:	n/a
10	chr5:142785172-142785222	AoSMC	blood vessel:	n/a
11	chr5:142785172-142785222	T-47D	breast:	n/a
12	chr5:142785172-142785222	PANC-1	pancreas:	n/a
13	chr5:142785172-142785222	HCF	heart:	n/a
14	chr5:142785172-142785222	MCF10A-Er-Src	breast:	n/a
15	chr5:142785172-142785222	Jurkat	blood:	n/a
16	chr5:142785172-142785222	ovcar-3	ovarian:	n/a
17	chr5:142785172-142785222	Caco-2	colon:	n/a
18	chr5:142785172-142785222	ECC-1	luminal epithelium:	n/a
19	chr5:142785172-142785222	CMK	blood:	n/a
20	chr5:142785172-142785222	GM12891	blood:	n/a
21	chr5:142785172-142785222	SAEC	small airway:	n/a
22	chr5:142785172-142785222	LNCaP	prostate:	n/a
23	chr5:142785172-142785222	SKMC	muscle:	n/a
24	chr5:142785172-142785222	NHDF-neo	bronchial:	n/a
25	chr5:142785172-142785222	GM06990	blood:	n/a
26	chr5:142785172-142785222	HEEpiC	esophagus:	n/a
27	chr5:142785172-142785222	HRPEpiC	eye:	n/a
28	chr5:142785172-142785222	ProgFib	skin:	n/a
29	chr5:142785172-142785222	GM19239	blood:	n/a
30	chr5:142785172-142785222	BE2_C	brain:	n/a
31	chr5:142785172-142785222	GM12892	blood:	n/a
32	chr5:142785172-142785222	HepG2	liver:	n/a
33	chr5:142785172-142785222	SK-N-SH	brain:	n/a
34	chr5:142785172-142785222	NT2-D1	testis:	n/a
35	chr5:142785172-142785222	PrEC	prostate:	n/a
36	chr5:142785172-142785222	HCM	heart:	n/a
37	chr5:142785172-142785222	HMEC	breast:	n/a
38	chr5:142785172-142785222	PFSK-1	brain:	n/a
39	chr5:142785172-142785222	BJ	skin:	n/a
40	chr5:142785172-142785222	HCT-116	colon:	n/a
41	chr5:142785172-142785222	RPTEC	kidney:	n/a
42	chr5:142785172-142785222	K562	blood:	n/a
43	chr5:142785172-142785222	HUVEC	blood vessel:	n/a
44	chr5:142785172-142785222	AG10803	skin:	n/a
45	chr5:142785172-142785222	HIPEpiC	eye:	n/a
46	chr5:142785172-142785222	A549	lung:	n/a
47	chr5:142785172-142785222	SK-N-MC	brain:	n/a
48	chr5:142785172-142785222	MCF-7	breast:	n/a
49	chr5:142785172-142785222	Hepatocyte	liver:	n/a
50	chr5:142785172-142785222	HCPEpiC	choroid plexus:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:144533866..144534747-chr5:142784539..142785182,2	Hela-S3	cervix:

Variant related genes	Relation type
NR3C1	TF binding region
NR3C1	CpG island
ENSG00000201699	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10035222	1.00[ASN][1000 genomes]
rs10042644	0.94[ASN][1000 genomes]
rs10043707	1.00[ASN][1000 genomes]
rs10055444	1.00[ASN][1000 genomes]
rs10076037	0.94[ASN][1000 genomes]
rs10076665	1.00[ASN][1000 genomes]
rs10482604	0.89[ASN][1000 genomes]
rs10482617	1.00[ASN][1000 genomes]
rs10482645	0.94[ASN][1000 genomes]
rs10482646	0.94[ASN][1000 genomes]
rs10482701	1.00[ASN][1000 genomes]
rs12386466	0.94[ASN][1000 genomes]
rs13306584	1.00[ASN][1000 genomes]
rs13306586	1.00[ASN][1000 genomes]
rs13306588	1.00[ASN][1000 genomes]
rs13353867	0.94[ASN][1000 genomes]
rs13355103	0.94[ASN][1000 genomes]
rs13358709	1.00[ASN][1000 genomes]
rs2301177	0.88[ASN][1000 genomes]
rs3822376	1.00[ASN][1000 genomes]
rs61751160	1.00[ASN][1000 genomes]
rs67300719	1.00[ASN][1000 genomes]
rs67902340	1.00[ASN][1000 genomes]
rs72481837	1.00[ASN][1000 genomes]
rs72481854	1.00[ASN][1000 genomes]
rs72542755	1.00[ASN][1000 genomes]
rs72542756	1.00[ASN][1000 genomes]
rs72542757	1.00[ASN][1000 genomes]
rs72542758	1.00[ASN][1000 genomes]
rs72542769	0.88[ASN][1000 genomes]
rs72557305	1.00[ASN][1000 genomes]
rs72557310	0.89[ASN][1000 genomes]
rs9324914	1.00[ASN][1000 genomes]
rs9324915	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023976	chr5:142692062-142813664	Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv882994	chr5:142770135-142791677	Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	esv3471370	chr5:142778742-142786304	Transcr. at gene 5' and 3' Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
4	esv3471371	chr5:142778742-142786304	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
5	esv3356658	chr5:142781784-142785332	Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
6	esv3364964	chr5:142781834-142785182	Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 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	chr5:142775400-142785200	Active TSS	Skeletal Muscle Male	skeletal muscle
2	chr5:142775400-142785600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr5:142775600-142785400	Active TSS	Brain Inferior Temporal Lobe	brain
4	chr5:142775600-142785600	Active TSS	Brain Angular Gyrus	brain
5	chr5:142776000-142785600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr5:142776200-142785400	Active TSS	Brain Substantia Nigra	brain
7	chr5:142777200-142785600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr5:142778200-142785600	Active TSS	Right Ventricle	heart
9	chr5:142779200-142785400	Active TSS	Lung	lung
10	chr5:142779200-142785600	Active TSS	Colonic Mucosa	Colon
11	chr5:142779800-142785400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
12	chr5:142779800-142785600	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr5:142780000-142785400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr5:142780000-142785400	Active TSS	NHLF	lung
15	chr5:142780000-142785600	Active TSS	HSMMtube	muscle
16	chr5:142780200-142785200	Active TSS	A549	lung
17	chr5:142780200-142785400	Active TSS	Brain Cingulate Gyrus	brain
18	chr5:142780200-142785400	Active TSS	Ovary	ovary
19	chr5:142780200-142785400	Active TSS	Placenta Amnion	Placenta Amnion
20	chr5:142780200-142785600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr5:142780200-142785600	Active TSS	Breast Myoepithelial Primary Cells	Breast
22	chr5:142780200-142785600	Active TSS	Left Ventricle	heart
23	chr5:142780200-142785600	Active TSS	Psoas Muscle	Psoas
24	chr5:142780200-142785600	Active TSS	Rectal Mucosa Donor 31	rectum
25	chr5:142780200-142785600	Active TSS	Right Atrium	heart
26	chr5:142780200-142785600	Active TSS	HSMM	muscle
27	chr5:142780400-142785200	Active TSS	NHDF-Ad	bronchial
28	chr5:142780400-142785400	Active TSS	Aorta	Aorta
29	chr5:142780600-142785600	Active TSS	Thymus	Thymus
30	chr5:142780800-142785400	Active TSS	Hela-S3	cervix
31	chr5:142781200-142785200	Active TSS	Skeletal Muscle Female	skeletal muscle
32	chr5:142781400-142785200	Active TSS	Gastric	stomach
33	chr5:142781400-142785400	Active TSS	Fetal Intestine Large	intestine
34	chr5:142781400-142785600	Active TSS	Esophagus	oesophagus
35	chr5:142781400-142785600	Active TSS	Pancreas	Pancrea
36	chr5:142781600-142785200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr5:142781600-142785200	Active TSS	Stomach Mucosa	stomach
38	chr5:142781600-142785400	Active TSS	Colon Smooth Muscle	Colon
39	chr5:142781600-142785400	Active TSS	Sigmoid Colon	Sigmoid Colon
40	chr5:142781600-142785400	Active TSS	Small Intestine	intestine
41	chr5:142781600-142785600	Active TSS	Fetal Intestine Small	intestine
42	chr5:142781600-142785600	Active TSS	Rectal Smooth Muscle	rectum
43	chr5:142781600-142786000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr5:142781800-142785200	Active TSS	Primary T helper naive cells from peripheral blood	blood
45	chr5:142781800-142785200	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
46	chr5:142781800-142785200	Active TSS	Primary T helper cells PMA-I stimulated	--
47	chr5:142781800-142785200	Active TSS	Brain Anterior Caudate	brain
48	chr5:142781800-142785200	Active TSS	Duodenum Mucosa	Duodenum
49	chr5:142781800-142785400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
50	chr5:142781800-142785400	Active TSS	Brain Hippocampus Middle	brain

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