Variant report

Variant	rs62362279
Chromosome Location	chr5:107718510-107718511
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	PAX5	chr5:107717400-107718548	GM12878	blood:	n/a	n/a
2	ZNF263	chr5:107716916-107718608	HEK293-T-REx	kidney:	n/a	chr5:107717103-107717112
3	POLR2A	chr5:107716346-107718529	HUVEC	blood vessel:	n/a	n/a
4	MAX	chr5:107717287-107718583	SK-N-SH	brain:	n/a	chr5:107718039-107718049 chr5:107717980-107717990
5	POLR2A	chr5:107716232-107718764	HepG2	liver:	n/a	n/a
6	POLR2A	chr5:107716979-107718954	GM12891	blood:	n/a	n/a
7	POLR2A	chr5:107716950-107719013	HCT-116	colon:	n/a	n/a
8	KAP1	chr5:107717576-107718852	HEK293	kidney:	n/a	n/a
9	POLR2A	chr5:107716806-107718768	K562	blood:	n/a	n/a
10	POLR2A	chr5:107716114-107718913	GM15510	blood:	n/a	n/a
11	POLR2A	chr5:107716092-107719682	GM18505	blood:	n/a	n/a
12	MAFF	chr5:107718398-107718931	K562	blood:	n/a	n/a
13	POLR2A	chr5:107715759-107719979	GM12878	blood:	n/a	n/a
14	POLR2A	chr5:107716294-107718725	GM12878	blood:	n/a	n/a
15	E2F6	chr5:107717848-107718529	A549	lung:	n/a	chr5:107718318-107718327
16	POLR2A	chr5:107716766-107718641	U87	brain:	n/a	n/a
17	POLR2A	chr5:107716728-107718646	HUVEC	blood vessel:	n/a	n/a
18	SMARCC1	chr5:107716961-107718678	Hela-S3	cervix:	n/a	n/a
19	EP300	chr5:107717999-107718559	GM12878	blood:	n/a	n/a
20	TAF1	chr5:107716788-107718529	H1-neurons	neurons:	n/a	n/a
21	ELF1	chr5:107716141-107718747	GM12878	blood:	n/a	chr5:107717772-107717781 chr5:107718602-107718613 chr5:107717453-107717462 chr5:107717136-107717145 chr5:107716942-107716954 chr5:107717111-107717120 chr5:107717237-107717249 chr5:107717216-107717228 chr5:107716344-107716356 chr5:107717133-107717142 chr5:107717252-107717261 chr5:107716941-107716953 chr5:107717311-107717320
22	PBX3	chr5:107717644-107718517	A549	lung:	n/a	n/a
23	MXI1	chr5:107716424-107718522	HepG2	liver:	n/a	n/a
24	MAX	chr5:107717312-107718516	H1-hESC	embryonic stem cell:	n/a	chr5:107718039-107718049 chr5:107717980-107717990
25	POLR2A	chr5:107716766-107718567	HL-60	blood:	n/a	n/a
26	CUX1	chr5:107718059-107718535	K562	blood:	n/a	n/a
27	POLR2A	chr5:107717017-107718808	HL-60	blood:	n/a	n/a
28	GABPA	chr5:107717468-107718553	K562	blood:	n/a	chr5:107718016-107718030
29	YY1	chr5:107716172-107718510	HepG2	liver:	n/a	chr5:107716869-107716883 chr5:107716940-107716949 chr5:107716623-107716637 chr5:107716666-107716677 chr5:107717302-107717316 chr5:107717308-107717322 chr5:107717134-107717145 chr5:107717249-107717258 chr5:107716940-107716954 chr5:107717773-107717787 chr5:107717373-107717393 chr5:107716621-107716632 chr5:107717136-107717145 chr5:107716941-107716955 chr5:107717133-107717142 chr5:107717833-107717847 chr5:107716868-107716877
30	TBL1XR1	chr5:107717209-107718575	GM12878	blood:	n/a	n/a
31	REST	chr5:107715933-107718983	H1-neurons	neurons:	n/a	chr5:107717833-107717846 chr5:107717091-107717101 chr5:107718021-107718041 chr5:107717888-107717901 chr5:107716683-107716696 chr5:107718559-107718572 chr5:107718014-107718027 chr5:107716557-107716564 chr5:107716650-107716660 chr5:107717964-107717974 chr5:107716405-107716418
32	POLR2A	chr5:107716236-107718850	H1-hESC	embryonic stem cell:	n/a	n/a
33	POLR2A	chr5:107716195-107718836	ECC-1	luminal epithelium:	n/a	n/a
34	HDAC2	chr5:107717545-107718525	MCF-7	breast:	n/a	n/a
35	SIN3AK20	chr5:107717442-107718636	MCF-7	breast:	n/a	n/a
36	MAZ	chr5:107716093-107718651	K562	blood:	n/a	chr5:107716299-107716309 chr5:107718039-107718049 chr5:107717980-107717990 chr5:107716341-107716351
37	MAZ	chr5:107716225-107718541	HepG2	liver:	n/a	chr5:107716299-107716309 chr5:107718039-107718049 chr5:107717980-107717990 chr5:107716341-107716351
38	POLR2A	chr5:107716103-107719353	Hela-S3	cervix:	n/a	n/a
39	RCOR1	chr5:107716168-107718776	K562	blood:	n/a	n/a
40	MAX	chr5:107716660-107718743	A549	lung:	n/a	chr5:107718039-107718049 chr5:107717980-107717990
41	SIN3A	chr5:107717511-107718532	GM12878	blood:	n/a	chr5:107718245-107718258 chr5:107717888-107717901 chr5:107717694-107717705
42	PML	chr5:107717414-107718534	K562	blood:	n/a	n/a
43	MAX	chr5:107716785-107718636	HepG2	liver:	n/a	chr5:107718039-107718049 chr5:107717980-107717990
44	STAT5A	chr5:107716746-107718970	GM12878	blood:	n/a	chr5:107718912-107718923
45	IRF1	chr5:107717685-107718686	K562	blood:	n/a	chr5:107717835-107717849 chr5:107718318-107718327
46	SP1	chr5:107717365-107718596	A549	lung:	n/a	chr5:107717835-107717847 chr5:107717979-107717991 chr5:107717836-107717845 chr5:107717832-107717846 chr5:107717837-107717846 chr5:107717835-107717847 chr5:107717979-107717991 chr5:107717980-107717994
47	MAX	chr5:107716841-107718586	K562	blood:	n/a	chr5:107718039-107718049 chr5:107717980-107717990
48	MAX	chr5:107716919-107719093	GM12878	blood:	n/a	chr5:107718039-107718049 chr5:107717980-107717990
49	CREB1	chr5:107717320-107718531	H1-hESC	embryonic stem cell:	n/a	n/a
50	POLR2A	chr5:107716895-107718980	GM12891	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:107700578..107705838-chr5:107715421..107718628,5	K562	blood:
2	chr5:107717757..107719316-chr5:108082854..108085189,2	MCF-7	breast:
3	chr1:11968697..11971206-chr5:107717145..107718846,2	MCF-7	breast:
4	chr17:56707838..56709408-chr5:107717077..107719444,2	MCF-7	breast:
5	chr17:61627012..61627680-chr5:107717870..107718550,2	NB4	blood:
6	chr5:107703017..107709518-chr5:107714821..107720551,7	MCF-7	breast:
7	chr5:104726534..104729492-chr5:107716153..107718681,2	K562	blood:
8	chr5:107673625..107675150-chr5:107717919..107720038,2	K562	blood:
9	chr5:107700359..107701872-chr5:107716648..107719223,2	MCF-7	breast:
10	chr5:107717243..107719303-chr5:108745580..108747696,2	MCF-7	breast:
11	chr2:85766264..85769158-chr5:107716614..107718992,2	MCF-7	breast:
12	chr5:107717885..107718650-chr9:2014848..2015524,2	NB4	blood:
13	chr5:107703047..107709148-chr5:107715421..107721287,10	K562	blood:
14	chr13:68904844..68905419-chr5:107718310..107718870,2	MCF-7	breast:
15	chr11:70049260..70050058-chr5:107717800..107718789,2	NB4	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FER-2	chr5:107717801-107724211	NONHSAT103120

Variant related genes	Relation type
FBXL17	TF binding region
ENSG00000168906	Chromatin interaction
ENSG00000212195	Chromatin interaction
ENSG00000168040	Chromatin interaction
ENSG00000198961	Chromatin interaction
ENSG00000151422	Chromatin interaction
ENSG00000145743	Chromatin interaction
ENSG00000201801	Chromatin interaction
ENSG00000251574	Chromatin interaction
ENSG00000080503	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10035966	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10045508	0.90[EUR][1000 genomes]
rs10054662	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10061049	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10078397	0.90[EUR][1000 genomes]
rs10463587	0.88[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs11240962	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11742268	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11948261	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11949077	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11949079	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12187433	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13361152	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1510967	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17388874	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17454114	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2112303	0.85[ASN][1000 genomes]
rs28572757	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28752150	0.88[ASN][1000 genomes]
rs4413518	0.87[EUR][1000 genomes]
rs57370105	0.80[ASN][1000 genomes]
rs59423465	0.89[EUR][1000 genomes]
rs60045633	0.89[EUR][1000 genomes]
rs60896544	0.89[EUR][1000 genomes]
rs62362281	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62362302	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6876738	0.87[EUR][1000 genomes]
rs6881232	0.89[EUR][1000 genomes]
rs6895295	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7714342	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7720469	0.90[EUR][1000 genomes]
rs7720841	0.89[EUR][1000 genomes]
rs9326727	0.88[ASN][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	nsv882683	chr5:107476501-107769095	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv882686	chr5:107564746-107769095	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv882689	chr5:107595383-108299744	Enhancers ZNF genes & repeats Active TSS Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	esv2755544	chr5:107614101-107748101	Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
5	esv3338064	chr5:107716078-107718926	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 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	chr5:107714200-107718600	Active TSS	GM12878-XiMat	blood
2	chr5:107714400-107718600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr5:107715000-107718800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr5:107715000-107719000	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr5:107715000-107719000	Active TSS	HUES64 Cell Line	embryonic stem cell
6	chr5:107715200-107718600	Active TSS	NHLF	lung
7	chr5:107715400-107718600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr5:107715400-107718600	Active TSS	Aorta	Aorta
9	chr5:107715400-107719000	Active TSS	Psoas Muscle	Psoas
10	chr5:107715400-107719200	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr5:107715600-107718600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr5:107715600-107718600	Active TSS	Right Ventricle	heart
13	chr5:107715600-107718600	Active TSS	Stomach Smooth Muscle	stomach
14	chr5:107715600-107718600	Active TSS	Thymus	Thymus
15	chr5:107715600-107718800	Active TSS	Pancreas	Pancrea
16	chr5:107715600-107719000	Active TSS	Colonic Mucosa	Colon
17	chr5:107715600-107719000	Active TSS	Fetal Intestine Large	intestine
18	chr5:107715600-107719000	Active TSS	Fetal Intestine Small	intestine
19	chr5:107715600-107719000	Active TSS	Fetal Muscle Trunk	muscle
20	chr5:107715800-107718600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr5:107715800-107718600	Active TSS	iPS-15b Cell Line	embryonic stem cell
22	chr5:107715800-107718600	Active TSS	Left Ventricle	heart
23	chr5:107715800-107718600	Active TSS	Rectal Mucosa Donor 29	rectum
24	chr5:107715800-107718600	Active TSS	NHDF-Ad	bronchial
25	chr5:107715800-107718800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
26	chr5:107715800-107718800	Active TSS	H9 Cell Line	embryonic stem cell
27	chr5:107715800-107718800	Active TSS	Breast Myoepithelial Primary Cells	Breast
28	chr5:107715800-107718800	Active TSS	Duodenum Smooth Muscle	Duodenum
29	chr5:107715800-107718800	Active TSS	HSMM	muscle
30	chr5:107716000-107718600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr5:107716000-107718600	Active TSS	Primary T killer memory cells from peripheral blood	blood
32	chr5:107716000-107718600	Active TSS	Brain Substantia Nigra	brain
33	chr5:107716000-107718600	Active TSS	Placenta	Placenta
34	chr5:107716000-107718600	Active TSS	NH-A	brain
35	chr5:107716000-107718800	Active TSS	Ovary	ovary
36	chr5:107716000-107718800	Active TSS	Sigmoid Colon	Sigmoid Colon
37	chr5:107716000-107719000	Active TSS	ES-I3 Cell Line	embryonic stem cell
38	chr5:107716000-107719000	Active TSS	H1 Cell Line	embryonic stem cell
39	chr5:107716000-107719000	Active TSS	HUES48 Cell Line	embryonic stem cell
40	chr5:107716000-107719000	Active TSS	Duodenum Mucosa	Duodenum
41	chr5:107716000-107719200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr5:107716000-107719400	Active TSS	Rectal Smooth Muscle	rectum
43	chr5:107716200-107718600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr5:107716200-107718600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr5:107716200-107718600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr5:107716200-107718600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
47	chr5:107716200-107718600	Active TSS	Liver	Liver
48	chr5:107716200-107718600	Active TSS	Colon Smooth Muscle	Colon
49	chr5:107716200-107718600	Active TSS	Lung	lung
50	chr5:107716200-107718600	Active TSS	Spleen	Spleen

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