Variant report

Variant	rs73317848
Chromosome Location	chr5:145562426-145562427
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:537)
CpG islands
(count:61)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:537 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT5A	chr5:145561654-145562721	GM12878	blood:	n/a	n/a
2	TAF1	chr5:145562022-145562603	PFSK-1	brain:	n/a	n/a
3	EBF1	chr5:145561798-145562618	GM12878	blood:	n/a	n/a
4	HDAC2	chr5:145561856-145562604	MCF-7	breast:	n/a	n/a
5	GABPA	chr5:145561906-145562797	HL-60	blood:	n/a	n/a
6	MAFK	chr5:145561978-145562523	Hela-S3	cervix:	n/a	n/a
7	SIN3A	chr5:145561654-145562713	H1-hESC	embryonic stem cell:	n/a	n/a
8	E2F6	chr5:145561972-145562562	A549	lung:	n/a	chr5:145562365-145562374 chr5:145562367-145562376
9	ZBTB33	chr5:145561857-145562692	A549	lung:	n/a	n/a
10	POLR2A	chr5:145561762-145562806	GM19099	blood:	n/a	n/a
11	IRF3	chr5:145562170-145562578	Hela-S3	cervix:	n/a	n/a
12	MAX	chr5:145561792-145562677	K562	blood:	n/a	n/a
13	GABPA	chr5:145561823-145562742	SK-N-SH	brain:	n/a	n/a
14	POLR2A	chr5:145561777-145562831	HUVEC	blood vessel:	n/a	n/a
15	MYC	chr5:145561727-145562622	MCF10A-Er-Src	breast:	n/a	n/a
16	SP1	chr5:145561906-145562528	GM12878	blood:	n/a	n/a
17	STAT3	chr5:145562079-145562502	MCF10A-Er-Src	breast:	n/a	n/a
18	POLR2A	chr5:145561859-145562702	H1-neurons	neurons:	n/a	n/a
19	GTF2F1	chr5:145561819-145562593	H1-hESC	embryonic stem cell:	n/a	n/a
20	ETS1	chr5:145561910-145562559	K562	blood:	n/a	chr5:145562244-145562257 chr5:145562295-145562308 chr5:145562386-145562399 chr5:145562243-145562256
21	RCOR1	chr5:145561868-145562630	HepG2	liver:	n/a	n/a
22	CREB1	chr5:145561715-145562746	GM12878	blood:	n/a	chr5:145562364-145562377
23	BACH1	chr5:145561812-145562672	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chr5:145561926-145562590	A549	lung:	n/a	n/a
25	ZBTB33	chr5:145562142-145562588	GM12878	blood:	n/a	n/a
26	YY1	chr5:145561811-145562622	A549	lung:	n/a	n/a
27	TEAD4	chr5:145561911-145562690	H1-hESC	embryonic stem cell:	n/a	n/a
28	POLR2A	chr5:145561767-145562783	PANC-1	pancreas:	n/a	n/a
29	POLR2A	chr5:145561050-145562854	MCF10A-Er-Src	breast:	n/a	n/a
30	NFIC	chr5:145561858-145562674	ECC-1	luminal epithelium:	n/a	n/a
31	RCOR1	chr5:145561933-145562635	Hela-S3	cervix:	n/a	n/a
32	JUND	chr5:145562039-145562596	HepG2	liver:	n/a	chr5:145562366-145562375
33	MAX	chr5:145561657-145562720	HCT-116	colon:	n/a	n/a
34	FOXP2	chr5:145562036-145562546	SK-N-MC	brain:	n/a	n/a
35	MXI1	chr5:145561756-145562734	HepG2	liver:	n/a	n/a
36	IRF1	chr5:145561943-145562640	K562	blood:	n/a	n/a
37	NR2F2	chr5:145561738-145562720	MCF-7	breast:	n/a	n/a
38	TBP	chr5:145561859-145562740	GM12878	blood:	n/a	n/a
39	TAF1	chr5:145561471-145562983	H1-hESC	embryonic stem cell:	n/a	n/a
40	POLR2A	chr5:145561635-145562661	GM12878	blood:	n/a	n/a
41	ATF2	chr5:145561959-145562657	H1-hESC	embryonic stem cell:	n/a	chr5:145562365-145562376
42	POLR2A	chr5:145561758-145562845	H1-hESC	embryonic stem cell:	n/a	n/a
43	TAF1	chr5:145561896-145562656	K562	blood:	n/a	n/a
44	SP1	chr5:145562087-145562630	H1-hESC	embryonic stem cell:	n/a	n/a
45	HEY1	chr5:145561736-145562689	K562	blood:	n/a	chr5:145562367-145562376 chr5:145562365-145562374
46	YY1	chr5:145561878-145562586	HCT-116	colon:	n/a	n/a
47	TCF12	chr5:145561640-145562903	A549	lung:	n/a	n/a
48	ELK1	chr5:145562030-145562701	GM12878	blood:	n/a	n/a
49	SPI1	chr5:145562198-145562470	K562	blood:	n/a	n/a
50	NR2F2	chr5:145561553-145563002	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:145562426-145562476	RPTEC	kidney:	n/a
2	chr5:145562426-145562476	ProgFib	skin:	n/a
3	chr5:145562426-145562476	HL-60	blood:	n/a
4	chr5:145562426-145562476	HIPEpiC	eye:	n/a
5	chr5:145562426-145562476	BJ	skin:	n/a
6	chr5:145562426-145562476	HRCEpiC	kidney:	n/a
7	chr5:145562426-145562476	AoSMC	blood vessel:	n/a
8	chr5:145562426-145562476	Hepatocyte	liver:	n/a
9	chr5:145562426-145562476	SK-N-SH	brain:	n/a
10	chr5:145562426-145562476	Hela-S3	cervix:	n/a
11	chr5:145562426-145562476	SAEC	small airway:	n/a
12	chr5:145562426-145562476	CMK	blood:	n/a
13	chr5:145562426-145562476	BE2_C	brain:	n/a
14	chr5:145562426-145562476	K562	blood:	n/a
15	chr5:145562426-145562476	HCT-116	colon:	n/a
16	chr5:145562426-145562476	HCM	heart:	n/a
17	chr5:145562426-145562476	GM12891	blood:	n/a
18	chr5:145562426-145562476	HAEpiC	amniotic membrane:	n/a
19	chr5:145562426-145562476	LNCaP	prostate:	n/a
20	chr5:145562426-145562476	HCF	heart:	n/a
21	chr5:145562426-145562476	SK-N-SH_RA	brain:	n/a
22	chr5:145562426-145562476	HNPCEpiC	eye:	n/a
23	chr5:145562426-145562476	AG04449	skin:	fetal
24	chr5:145562426-145562476	GM12892	blood:	n/a
25	chr5:145562426-145562476	HRPEpiC	eye:	n/a
26	chr5:145562426-145562476	HRE	kidney:	n/a
27	chr5:145562426-145562476	NH-A	brain:	n/a
28	chr5:145562426-145562476	IMR90	lung:	fetal
29	chr5:145562426-145562476	HMEC	breast:	n/a
30	chr5:145562426-145562476	AG09309	skin:	n/a
31	chr5:145562426-145562476	NHBE	bronchial:	n/a
32	chr5:145562426-145562476	GM06990	blood:	n/a
33	chr5:145562426-145562476	Caco-2	colon:	n/a
34	chr5:145562426-145562476	H1-hESC	embryonic stem cell:	embryo
35	chr5:145562426-145562476	GM12878	blood:	n/a
36	chr5:145562426-145562476	HUVEC	blood vessel:	n/a
37	chr5:145562426-145562476	MCF10A-Er-Src	breast:	n/a
38	chr5:145562426-145562476	PrEC	prostate:	n/a
39	chr5:145562426-145562476	HEK293	kidney:	embryo
40	chr5:145562426-145562476	HEEpiC	esophagus:	n/a
41	chr5:145562426-145562476	MCF-7	breast:	n/a
42	chr5:145562426-145562476	SKMC	muscle:	n/a
43	chr5:145562426-145562476	AG10803	skin:	n/a
44	chr5:145562426-145562476	T-47D	breast:	n/a
45	chr5:145562426-145562476	SK-N-MC	brain:	n/a
46	chr5:145562426-145562476	PANC-1	pancreas:	n/a
47	chr5:145562426-145562476	NT2-D1	testis:	n/a
48	chr5:145562426-145562476	U87	brain:	n/a
49	chr5:145562426-145562476	NB4	blood:	n/a
50	chr5:145562426-145562476	HPAEpiC	pulmonary alveolar:	n/a

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:145559594..145562426-chr5:145581996..145584629,4	MCF-7	breast:
2	chr20:46414738..46416706-chr5:145560925..145562971,2	MCF-7	breast:
3	chr5:145560893..145564215-chr5:145581108..145584712,3	MCF-7	breast:
4	chr5:145558307..145563846-chr5:145580315..145584343,10	K562	blood:
5	chr5:145559635..145563527-chr5:145825770..145828320,3	K562	blood:
6	chr5:145560592..145565120-chr5:145580444..145584486,7	K562	blood:

No data

Variant related genes	Relation type
LARS	TF binding region
LARS	CpG island
ENSG00000196562	Chromatin interaction
ENSG00000091009	Chromatin interaction
ENSG00000113649	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs56013882	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56393547	0.87[AFR][1000 genomes]
rs57605364	0.91[AFR][1000 genomes]
rs57650885	0.87[AFR][1000 genomes]
rs58281516	0.87[AFR][1000 genomes]
rs58508858	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58640165	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59545810	0.87[AFR][1000 genomes]
rs6580412	0.91[AFR][1000 genomes]
rs6886046	0.89[AFR][1000 genomes]
rs73303448	0.87[AFR][1000 genomes]
rs73303451	0.85[AFR][1000 genomes]
rs73303481	0.87[AFR][1000 genomes]
rs73315726	1.00[AMR][1000 genomes]
rs73315733	1.00[AMR][1000 genomes]
rs73315738	1.00[AMR][1000 genomes]
rs73315744	1.00[AMR][1000 genomes]
rs73315755	1.00[AMR][1000 genomes]
rs73315779	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73317823	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73317824	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73317840	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73317871	1.00[AMR][1000 genomes]
rs73317879	0.96[AFR][1000 genomes]
rs73319927	0.92[AFR][1000 genomes]
rs73793852	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73793869	0.92[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	nsv883006	chr5:145450586-145672431	ZNF genes & repeats Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv428128	chr5:145503978-145682880	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv883007	chr5:145506100-145672431	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv883008	chr5:145509728-145642925	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	esv3348501	chr5:145543808-145572250	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 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	chr5:145560000-145563000	Active TSS	iPS-18 Cell Line	embryonic stem cell
2	chr5:145560200-145563000	Active TSS	iPS-15b Cell Line	embryonic stem cell
3	chr5:145560400-145563000	Active TSS	HSMM	muscle
4	chr5:145560600-145563000	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr5:145560600-145563000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr5:145560600-145563000	Active TSS	HUES48 Cell Line	embryonic stem cell
7	chr5:145560600-145563000	Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr5:145560600-145563200	Active TSS	HUES64 Cell Line	embryonic stem cell
9	chr5:145560600-145563200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr5:145560600-145563200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
11	chr5:145560800-145562600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr5:145560800-145562800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr5:145560800-145563000	Active TSS	iPS-20b Cell Line	embryonic stem cell
14	chr5:145560800-145563000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr5:145560800-145563000	Active TSS	K562	blood
16	chr5:145561000-145562800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr5:145561000-145562800	Active TSS	HSMMtube	muscle
18	chr5:145561000-145563000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
19	chr5:145561000-145563000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr5:145561000-145563000	Flanking Active TSS	Primary hematopoietic stem cells	blood
21	chr5:145561000-145563000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr5:145561000-145563000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr5:145561000-145563000	Flanking Active TSS	Adipose Nuclei	Adipose
24	chr5:145561000-145563000	Active TSS	Fetal Kidney	kidney
25	chr5:145561000-145563000	Active TSS	NH-A	brain
26	chr5:145561000-145563000	Active TSS	NHLF	lung
27	chr5:145561000-145563000	Active TSS	Osteobl	bone
28	chr5:145561200-145562600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr5:145561200-145562600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr5:145561200-145562800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr5:145561200-145562800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr5:145561200-145562800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr5:145561200-145562800	Active TSS	Brain Inferior Temporal Lobe	brain
34	chr5:145561200-145562800	Active TSS	Pancreas	Pancrea
35	chr5:145561200-145562800	Active TSS	Thymus	Thymus
36	chr5:145561200-145563000	Active TSS	H1 Cell Line	embryonic stem cell
37	chr5:145561200-145563000	Active TSS	H9 Cell Line	embryonic stem cell
38	chr5:145561200-145563000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr5:145561200-145563000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr5:145561200-145563000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr5:145561200-145563000	Active TSS	Breast Myoepithelial Primary Cells	Breast
42	chr5:145561200-145563000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr5:145561200-145563000	Active TSS	Primary T helper cells PMA-I stimulated	--
44	chr5:145561200-145563000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr5:145561200-145563000	Active TSS	Brain Cingulate Gyrus	brain
46	chr5:145561200-145563000	Active TSS	Brain Germinal Matrix	brain
47	chr5:145561200-145563000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
48	chr5:145561200-145563000	Active TSS	Fetal Intestine Small	intestine
49	chr5:145561200-145563000	Active TSS	Pancreatic Islets	Pancreatic Islet
50	chr5:145561200-145563000	Active TSS	Fetal Lung	lung

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