Variant report

Variant	rs72557310
Chromosome Location	chr5:142784317-142784318
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	CTCF	chr5:142784200-142784350	AG10803	skin:	n/a	chr5:142784269-142784279
2	RUNX3	chr5:142782574-142785511	GM12878	blood:	n/a	n/a
3	POLR2A	chr5:142783433-142785544	GM12892	blood:	n/a	n/a
4	POLR2A	chr5:142783440-142785264	SK-N-SH	brain:	n/a	n/a
5	MAX	chr5:142781440-142785469	A549	lung:	n/a	chr5:142784085-142784095 chr5:142782756-142782766 chr5:142783623-142783633
6	RUNX3	chr5:142782899-142785421	GM12878	blood:	n/a	n/a
7	SIN3AK20	chr5:142784051-142785161	SK-N-SH	brain:	n/a	n/a
8	NR2F2	chr5:142782460-142785308	MCF-7	breast:	n/a	n/a
9	EP300	chr5:142784212-142784465	Hela-S3	cervix:	n/a	chr5:142784236-142784250
10	CTCF	chr5:142784260-142784410	NHDF-neo	bronchial:	n/a	chr5:142784269-142784279
11	CTCF	chr5:142784180-142784330	SK-N-SH_RA	brain:	n/a	chr5:142784269-142784279
12	CREB1	chr5:142782966-142785452	HepG2	liver:	n/a	n/a
13	POLR2A	chr5:142782015-142785534	Raji	blood:	n/a	n/a
14	MAX	chr5:142782994-142785396	SK-N-SH	brain:	n/a	chr5:142784085-142784095 chr5:142783623-142783633
15	CTCF	chr5:142784180-142784330	HCPEpiC	choroid plexus:	n/a	chr5:142784269-142784279
16	EP300	chr5:142783112-142785051	GM12878	blood:	n/a	chr5:142784117-142784126 chr5:142783698-142783714 chr5:142783856-142783872 chr5:142784014-142784023 chr5:142784114-142784123 chr5:142783539-142783548 chr5:142784236-142784250
17	ELF1	chr5:142784132-142785549	GM12878	blood:	n/a	chr5:142784642-142784654 chr5:142784968-142784977
18	MAZ	chr5:142781351-142785732	IMR90	lung:	n/a	chr5:142784085-142784095 chr5:142782756-142782766 chr5:142783623-142783633
19	POLR2A	chr5:142784097-142785448	U87	brain:	n/a	n/a
20	FOXM1	chr5:142782727-142785429	GM12878	blood:	n/a	n/a
21	EGR1	chr5:142783802-142784407	GM12878	blood:	n/a	chr5:142784063-142784076 chr5:142784111-142784125 chr5:142784060-142784074
22	POLR2A	chr5:142784250-142785125	A549	lung:	n/a	n/a
23	TCF7L2	chr5:142782132-142784429	HCT-116	colon:	n/a	n/a
24	CEBPB	chr5:142783070-142785166	Hela-S3	cervix:	n/a	n/a
25	RAD21	chr5:142784055-142784551	A549	lung:	n/a	chr5:142784270-142784280
26	POLR2A	chr5:142779195-142785402	GM12878	blood:	n/a	n/a
27	CTCF	chr5:142784220-142784370	HMF	breast:	n/a	chr5:142784269-142784279
28	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
29	JUND	chr5:142782912-142784494	A549	lung:	n/a	chr5:142783232-142783241
30	GATA3	chr5:142779543-142785341	A549	lung:	n/a	chr5:142781692-142781713 chr5:142781699-142781708 chr5:142781698-142781708 chr5:142784454-142784463 chr5:142783912-142783921
31	RAD21	chr5:142783014-142785308	A549	lung:	n/a	chr5:142784270-142784280 chr5:142784982-142784994
32	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
33	POLR2A	chr5:142781414-142785497	GM19099	blood:	n/a	n/a
34	RAD21	chr5:142782996-142784636	SK-N-SH_RA	brain:	n/a	chr5:142784270-142784280
35	CTCF	chr5:142784240-142784390	GM12873	blood:	n/a	chr5:142784269-142784279
36	ZBTB7A	chr5:142782980-142785085	ECC-1	luminal epithelium:	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	MAX	chr5:142781498-142785442	K562	blood:	n/a	chr5:142784085-142784095 chr5:142782756-142782766 chr5:142783623-142783633
41	ZNF143	chr5:142783105-142785413	GM12878	blood:	n/a	chr5:142785333-142785351 chr5:142784837-142784847 chr5:142784059-142784077 chr5:142784653-142784671
42	HEY1	chr5:142784212-142785257	HepG2	liver:	n/a	n/a
43	CBX3	chr5:142783634-142785677	K562	blood:	n/a	n/a
44	TBL1XR1	chr5:142784181-142784383	K562	blood:	n/a	n/a
45	POLR2A	chr5:142782824-142785417	PFSK-1	brain:	n/a	n/a
46	CTCF	chr5:142784040-142784330	GM12873	blood:	n/a	chr5:142784125-142784138 chr5:142784269-142784279
47	POLR2A	chr5:142779252-142785530	Hela-S3	cervix:	n/a	n/a
48	RELA	chr5:142783010-142785511	GM15510	blood:	n/a	n/a
49	CTCF	chr5:142784260-142784410	AG04449	skin:	n/a	chr5:142784269-142784279
50	POLR2A	chr5:142784046-142784403	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:142585827..142588456-chr5:142781871..142784934,4	K562	blood:
2	chr15:75747688..75748427-chr5:142783692..142784491,2	NB4	blood:
3	chr5:142779754..142782686-chr5:142783184..142785166,2	MCF-7	breast:
4	chr5:142767452..142770135-chr5:142781692..142784604,3	K562	blood:
5	chr5:140965764..140967390-chr5:142782677..142784677,2	K562	blood:

Variant related genes	Relation type
NR3C1	TF binding region
ENSG00000145819	Chromatin interaction
ENSG00000169375	Chromatin interaction
ENSG00000131504	Chromatin interaction
ENSG00000113580	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10035222	0.89[ASN][1000 genomes]
rs10042644	0.84[ASN][1000 genomes]
rs10043707	0.89[ASN][1000 genomes]
rs10055444	0.89[ASN][1000 genomes]
rs10076037	0.84[ASN][1000 genomes]
rs10076665	0.89[ASN][1000 genomes]
rs10482617	0.89[ASN][1000 genomes]
rs10482645	0.84[ASN][1000 genomes]
rs10482646	0.84[ASN][1000 genomes]
rs10482701	0.89[ASN][1000 genomes]
rs12386466	0.84[ASN][1000 genomes]
rs13306584	0.89[ASN][1000 genomes]
rs13306586	0.89[ASN][1000 genomes]
rs13306588	0.89[ASN][1000 genomes]
rs13353867	0.84[ASN][1000 genomes]
rs13355103	0.84[ASN][1000 genomes]
rs13358709	0.89[ASN][1000 genomes]
rs3822376	0.89[ASN][1000 genomes]
rs61751160	0.89[ASN][1000 genomes]
rs66697623	0.89[ASN][1000 genomes]
rs67300719	0.89[ASN][1000 genomes]
rs67902340	0.89[ASN][1000 genomes]
rs72481837	0.89[ASN][1000 genomes]
rs72481854	0.89[ASN][1000 genomes]
rs72542755	0.89[ASN][1000 genomes]
rs72542756	0.89[ASN][1000 genomes]
rs72542757	0.89[ASN][1000 genomes]
rs72542758	0.89[ASN][1000 genomes]
rs72557305	0.89[ASN][1000 genomes]
rs9324914	0.89[ASN][1000 genomes]
rs9324915	0.89[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	chr5:142780200-142784400	Active TSS	Fetal Muscle Trunk	muscle
17	chr5:142780200-142784400	Active TSS	Stomach Smooth Muscle	stomach
18	chr5:142780200-142784400	Active TSS	GM12878-XiMat	blood
19	chr5:142780200-142784400	Active TSS	HMEC	breast
20	chr5:142780200-142785200	Active TSS	A549	lung
21	chr5:142780200-142785400	Active TSS	Brain Cingulate Gyrus	brain
22	chr5:142780200-142785400	Active TSS	Ovary	ovary
23	chr5:142780200-142785400	Active TSS	Placenta Amnion	Placenta Amnion
24	chr5:142780200-142785600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr5:142780200-142785600	Active TSS	Breast Myoepithelial Primary Cells	Breast
26	chr5:142780200-142785600	Active TSS	Left Ventricle	heart
27	chr5:142780200-142785600	Active TSS	Psoas Muscle	Psoas
28	chr5:142780200-142785600	Active TSS	Rectal Mucosa Donor 31	rectum
29	chr5:142780200-142785600	Active TSS	Right Atrium	heart
30	chr5:142780200-142785600	Active TSS	HSMM	muscle
31	chr5:142780400-142784400	Active TSS	Fetal Muscle Leg	muscle
32	chr5:142780400-142784600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr5:142780400-142784600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr5:142780400-142785200	Active TSS	NHDF-Ad	bronchial
35	chr5:142780400-142785400	Active TSS	Aorta	Aorta
36	chr5:142780600-142785600	Active TSS	Thymus	Thymus
37	chr5:142780800-142784400	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
38	chr5:142780800-142784400	Active TSS	Muscle Satellite Cultured Cells	--
39	chr5:142780800-142785000	Active TSS	Duodenum Smooth Muscle	Duodenum
40	chr5:142780800-142785400	Active TSS	Hela-S3	cervix
41	chr5:142781000-142784400	Active TSS	Osteobl	bone
42	chr5:142781200-142785200	Active TSS	Skeletal Muscle Female	skeletal muscle
43	chr5:142781400-142785200	Active TSS	Gastric	stomach
44	chr5:142781400-142785400	Active TSS	Fetal Intestine Large	intestine
45	chr5:142781400-142785600	Active TSS	Esophagus	oesophagus
46	chr5:142781400-142785600	Active TSS	Pancreas	Pancrea
47	chr5:142781600-142784400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr5:142781600-142785000	Active TSS	Spleen	Spleen
49	chr5:142781600-142785200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr5:142781600-142785200	Active TSS	Stomach Mucosa	stomach

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