Variant report

Variant	rs7248765
Chromosome Location	chr19:19517655-19517656
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	TCF7L2	chr19:19517615-19517994	HEK293	kidney:	n/a	chr19:19517813-19517822 chr19:19517799-19517808 chr19:19517800-19517809 chr19:19517796-19517812 chr19:19517796-19517812
2	SIN3AK20	chr19:19515685-19518134	MCF-7	breast:	n/a	n/a
3	RFX5	chr19:19517387-19518086	Hela-S3	cervix:	n/a	n/a
4	ZBTB7A	chr19:19516615-19517724	ECC-1	luminal epithelium:	n/a	n/a
5	TBL1XR1	chr19:19517360-19517944	GM12878	blood:	n/a	n/a
6	POLR2A	chr19:19517348-19518616	GM12892	blood:	n/a	n/a
7	RAD21	chr19:19517652-19518106	Hela-S3	cervix:	n/a	chr19:19517920-19517939 chr19:19517930-19517944 chr19:19518047-19518059
8	POLR2A	chr19:19515810-19518478	H1-hESC	embryonic stem cell:	n/a	n/a
9	MXI1	chr19:19515634-19518501	SK-N-SH	brain:	n/a	chr19:19517040-19517049
10	MXI1	chr19:19515533-19518803	IMR90	lung:	n/a	chr19:19517040-19517049
11	TCF7L2	chr19:19517410-19518383	Hela-S3	cervix:	n/a	chr19:19517813-19517822 chr19:19517799-19517808 chr19:19517800-19517809 chr19:19517796-19517812 chr19:19517796-19517812
12	FOS	chr19:19517583-19518017	MCF10A-Er-Src	breast:	n/a	chr19:19517812-19517822 chr19:19517811-19517822 chr19:19517812-19517822 chr19:19517812-19517822 chr19:19517809-19517820
13	CTCF	chr19:19517520-19517670	NHLF	lung:	n/a	n/a
14	BCLAF1	chr19:19517251-19518163	GM12878	blood:	n/a	chr19:19517670-19517679
15	STAT3	chr19:19517633-19518006	MCF10A-Er-Src	breast:	n/a	n/a
16	FOXM1	chr19:19517210-19518222	GM12878	blood:	n/a	n/a
17	POLR2A	chr19:19515764-19517712	K562	blood:	n/a	n/a
18	CHD2	chr19:19517574-19517733	K562	blood:	n/a	n/a
19	ELF1	chr19:19516732-19517656	GM12878	blood:	n/a	chr19:19516850-19516862
20	MAZ	chr19:19515334-19518804	IMR90	lung:	n/a	chr19:19517185-19517192 chr19:19517317-19517326 chr19:19517183-19517194 chr19:19517184-19517193 chr19:19517184-19517194 chr19:19517168-19517178 chr19:19516393-19516403 chr19:19517041-19517050 chr19:19517043-19517052 chr19:19517042-19517049 chr19:19517186-19517195
21	MYC	chr19:19517390-19517758	MCF10A-Er-Src	breast:	n/a	n/a
22	STAT5A	chr19:19517362-19517694	GM12878	blood:	n/a	n/a
23	POLR2A	chr19:19517538-19517741	HepG2	liver:	n/a	n/a
24	MXI1	chr19:19517291-19517891	K562	blood:	n/a	n/a
25	SIN3AK20	chr19:19517236-19517690	H1-hESC	embryonic stem cell:	n/a	n/a
26	MAX	chr19:19516735-19517767	K562	blood:	n/a	chr19:19517185-19517192 chr19:19517317-19517326 chr19:19517183-19517194 chr19:19517184-19517193 chr19:19517184-19517194 chr19:19517168-19517178 chr19:19517041-19517050 chr19:19517043-19517052 chr19:19517042-19517049 chr19:19517186-19517195
27	RAD21	chr19:19517637-19518159	MCF-7	breast:	n/a	chr19:19517920-19517939 chr19:19517930-19517944 chr19:19518047-19518059
28	SIN3AK20	chr19:19516939-19517856	K562	blood:	n/a	n/a
29	NR2F2	chr19:19517195-19517851	K562	blood:	n/a	n/a
30	ESR1	chr19:19517076-19517747	ECC-1	luminal epithelium:	n/a	n/a
31	UBTF	chr19:19517293-19517962	K562	blood:	n/a	n/a
32	MYC	chr19:19515762-19518322	K562	blood:	n/a	chr19:19517185-19517192 chr19:19517317-19517326 chr19:19517183-19517194 chr19:19517184-19517193 chr19:19517184-19517194 chr19:19517168-19517178 chr19:19516393-19516403 chr19:19517041-19517050 chr19:19517043-19517052 chr19:19517042-19517049 chr19:19517186-19517195
33	PML	chr19:19517360-19518196	GM12878	blood:	n/a	n/a
34	RAD21	chr19:19517429-19518220	HCT-116	colon:	n/a	chr19:19517920-19517939 chr19:19517930-19517944 chr19:19517512-19517526 chr19:19518047-19518059
35	POLR2A	chr19:19517317-19518682	GM12878	blood:	n/a	n/a
36	CUX1	chr19:19517344-19518261	K562	blood:	n/a	n/a
37	MAZ	chr19:19515773-19518388	K562	blood:	n/a	chr19:19517185-19517192 chr19:19517317-19517326 chr19:19517183-19517194 chr19:19517184-19517193 chr19:19517184-19517194 chr19:19517168-19517178 chr19:19516393-19516403 chr19:19517041-19517050 chr19:19517043-19517052 chr19:19517042-19517049 chr19:19517186-19517195
38	CTCF	chr19:19517600-19517750	GM12875	blood:	n/a	n/a
39	ZKSCAN1	chr19:19517430-19518326	Hela-S3	cervix:	n/a	n/a
40	SMC3	chr19:19517566-19518103	Hela-S3	cervix:	n/a	chr19:19517924-19517938
41	POLR2A	chr19:19517329-19517975	K562	blood:	n/a	n/a
42	MXI1	chr19:19516004-19518118	GM12878	blood:	n/a	chr19:19517040-19517049
43	HEY1	chr19:19517237-19518848	K562	blood:	n/a	n/a
44	MYC	chr19:19515664-19517990	K562	blood:	n/a	chr19:19517185-19517192 chr19:19517317-19517326 chr19:19517183-19517194 chr19:19517184-19517193 chr19:19517184-19517194 chr19:19517168-19517178 chr19:19516393-19516403 chr19:19517041-19517050 chr19:19517043-19517052 chr19:19517042-19517049 chr19:19517186-19517195
45	UBTF	chr19:19517292-19518402	K562	blood:	n/a	n/a
46	SIN3AK20	chr19:19517332-19517779	SK-N-SH	brain:	n/a	n/a
47	WRNIP1	chr19:19517498-19518600	GM12878	blood:	n/a	n/a
48	ELF1	chr19:19517209-19517715	K562	blood:	n/a	n/a
49	FOS	chr19:19517633-19517913	MCF10A-Er-Src	breast:	n/a	chr19:19517812-19517822 chr19:19517811-19517822 chr19:19517812-19517822 chr19:19517812-19517822 chr19:19517809-19517820
50	POLR2A	chr19:19516897-19517737	HL-60	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:19517612-19517662	AG09309	skin:	n/a
2	chr19:19517612-19517662	HRCEpiC	kidney:	n/a
3	chr19:19517612-19517662	SAEC	small airway:	n/a
4	chr19:19517612-19517662	Jurkat	blood:	n/a
5	chr19:19517612-19517662	H1-hESC	embryonic stem cell:	embryo
6	chr19:19517612-19517662	AG04449	skin:	fetal
7	chr19:19517612-19517662	Hepatocyte	liver:	n/a
8	chr19:19517612-19517662	Hela-S3	cervix:	n/a
9	chr19:19517612-19517662	Caco-2	colon:	n/a
10	chr19:19517612-19517662	MCF10A-Er-Src	breast:	n/a
11	chr19:19517612-19517662	HNPCEpiC	eye:	n/a
12	chr19:19517612-19517662	BE2_C	brain:	n/a
13	chr19:19517612-19517662	NHDF-neo	bronchial:	n/a
14	chr19:19517612-19517662	HEK293	kidney:	embryo
15	chr19:19517612-19517662	HIPEpiC	eye:	n/a
16	chr19:19517612-19517662	ovcar-3	ovarian:	n/a
17	chr19:19517612-19517662	NH-A	brain:	n/a
18	chr19:19517612-19517662	HCPEpiC	choroid plexus:	n/a
19	chr19:19517612-19517662	AG10803	skin:	n/a
20	chr19:19517612-19517662	NT2-D1	testis:	n/a
21	chr19:19517612-19517662	HCF	heart:	n/a
22	chr19:19517612-19517662	T-47D	breast:	n/a
23	chr19:19517612-19517662	HRE	kidney:	n/a
24	chr19:19517612-19517662	AoSMC	blood vessel:	n/a
25	chr19:19517612-19517662	HMEC	breast:	n/a
26	chr19:19517612-19517662	HPAEpiC	pulmonary alveolar:	n/a
27	chr19:19517612-19517662	HAEpiC	amniotic membrane:	n/a
28	chr19:19517612-19517662	SK-N-SH_RA	brain:	n/a
29	chr19:19517612-19517662	PrEC	prostate:	n/a
30	chr19:19517612-19517662	HL-60	blood:	n/a
31	chr19:19517612-19517662	SK-N-SH	brain:	n/a
32	chr19:19517612-19517662	AG09319	gingival:	n/a
33	chr19:19517612-19517662	GM12891	blood:	n/a
34	chr19:19517612-19517662	K562	blood:	n/a
35	chr19:19517612-19517662	A549	lung:	n/a
36	chr19:19517612-19517662	AG04450	lung:	fetal
37	chr19:19517612-19517662	HEEpiC	esophagus:	n/a
38	chr19:19517612-19517662	SKMC	muscle:	n/a
39	chr19:19517612-19517662	GM06990	blood:	n/a
40	chr19:19517612-19517662	CMK	blood:	n/a
41	chr19:19517612-19517662	GM12878	blood:	n/a
42	chr19:19517612-19517662	ProgFib	skin:	n/a
43	chr19:19517612-19517662	ECC-1	luminal epithelium:	n/a
44	chr19:19517612-19517662	RPTEC	kidney:	n/a
45	chr19:19517612-19517662	HUVEC	blood vessel:	n/a
46	chr19:19517612-19517662	GM12892	blood:	n/a
47	chr19:19517612-19517662	LNCaP	prostate:	n/a
48	chr19:19517612-19517662	SK-N-MC	brain:	n/a
49	chr19:19517612-19517662	NB4	blood:	n/a
50	chr19:19517612-19517662	GM19239	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:19515119..19517741-chr19:19568755..19571176,2	MCF-7	breast:
2	chr19:19516568..19518207-chr19:19573514..19577628,3	MCF-7	breast:
3	chr19:19515140..19518800-chr19:19574675..19578008,3	K562	blood:
4	chr19:19492268..19501550-chr19:19512499..19523684,29	K562	blood:
5	chr13:93606573..93607451-chr19:19517462..19518161,2	MCF-7	breast:
6	chr19:19517059..19519979-chr19:19556271..19558619,2	MCF-7	breast:
7	chr19:19477369..19478572-chr19:19517483..19518545,4	MCF-7	breast:
8	chr19:19491673..19504307-chr19:19513999..19523684,33	K562	blood:
9	chr19:19477386..19478234-chr19:19517375..19518109,3	MCF-7	breast:
10	chr19:19516170..19518046-chr20:30944497..30946734,2	K562	blood:
11	chr19:19517137..19518642-chr19:19558154..19560322,2	K562	blood:
12	chr19:19428553..19432587-chr19:19515649..19520173,6	K562	blood:
13	chr19:19514824..19526614-chr19:19535593..19543548,15	K562	blood:
14	chr19:19494732..19500297-chr19:19512585..19520288,14	MCF-7	breast:
15	chr19:19476063..19479194-chr19:19516845..19521061,4	K562	blood:
16	chr19:19454032..19456725-chr19:19515938..19518682,3	K562	blood:
17	chr19:19514840..19518062-chr19:19543803..19546421,4	K562	blood:
18	chr19:19477732..19478297-chr19:19517505..19518349,2	K562	blood:
19	chr19:19494550..19497983-chr19:19513188..19518336,8	MCF-7	breast:

Variant related genes	Relation type
ENSG00000267234	TF binding region
ENSG00000267234	CpG island
ENSG00000129933	Chromatin interaction
ENSG00000207821	Chromatin interaction
ENSG00000105705	Chromatin interaction
ENSG00000171456	Chromatin interaction
ENSG00000167491	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10402799	1.00[AMR][1000 genomes]
rs10403737	0.89[AFR][1000 genomes]
rs10408216	1.00[AMR][1000 genomes]
rs10413309	1.00[AMR][1000 genomes]
rs10413582	0.89[AFR][1000 genomes]
rs10417312	0.89[AMR][1000 genomes]
rs10417715	1.00[AMR][1000 genomes]
rs10422522	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10423535	0.80[AFR][1000 genomes]
rs10423747	1.00[AMR][1000 genomes]
rs10425574	0.85[AFR][1000 genomes]
rs16996042	1.00[AMR][1000 genomes]
rs2106699	1.00[AMR][1000 genomes]
rs2315280	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56304704	1.00[AMR][1000 genomes]
rs56317107	1.00[AMR][1000 genomes]
rs60860168	1.00[AMR][1000 genomes]
rs7249940	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73922864	1.00[AMR][1000 genomes]
rs73922870	1.00[AMR][1000 genomes]
rs8110508	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9304961	0.89[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv911305	chr19:19303802-19663850	Genic enhancers Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	esv3360569	chr19:19515477-19518325	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
3	esv3411112	chr19:19515802-19518225	Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	9 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	chr19:19515600-19517800	Active TSS	HUES64 Cell Line	embryonic stem cell
2	chr19:19515600-19517800	Active TSS	Colon Smooth Muscle	Colon
3	chr19:19515600-19517800	Active TSS	Fetal Kidney	kidney
4	chr19:19515600-19518000	Active TSS	Brain Anterior Caudate	brain
5	chr19:19515600-19518200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr19:19515800-19518000	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr19:19515800-19518000	Active TSS	H9 Cell Line	embryonic stem cell
8	chr19:19515800-19518000	Active TSS	Aorta	Aorta
9	chr19:19515800-19518000	Active TSS	Gastric	stomach
10	chr19:19515800-19518200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
11	chr19:19515800-19518200	Active TSS	Ovary	ovary
12	chr19:19515800-19518200	Active TSS	Psoas Muscle	Psoas
13	chr19:19515800-19518800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr19:19516000-19517800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr19:19516000-19517800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr19:19516000-19517800	Active TSS	iPS-15b Cell Line	embryonic stem cell
17	chr19:19516000-19517800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr19:19516000-19517800	Active TSS	Breast Myoepithelial Primary Cells	Breast
19	chr19:19516000-19517800	Active TSS	Duodenum Smooth Muscle	Duodenum
20	chr19:19516000-19517800	Active TSS	Pancreatic Islets	Pancreatic Islet
21	chr19:19516000-19518000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr19:19516000-19518000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr19:19516000-19518000	Active TSS	Right Atrium	heart
24	chr19:19516000-19518000	Active TSS	Sigmoid Colon	Sigmoid Colon
25	chr19:19516000-19518200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr19:19516000-19518200	Active TSS	Small Intestine	intestine
27	chr19:19516200-19517800	Active TSS	Esophagus	oesophagus
28	chr19:19516200-19518000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr19:19516200-19518000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr19:19516200-19518000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr19:19516200-19518000	Active TSS	Brain Cingulate Gyrus	brain
32	chr19:19516200-19518000	Active TSS	Colonic Mucosa	Colon
33	chr19:19516200-19518000	Active TSS	Fetal Intestine Large	intestine
34	chr19:19516200-19518000	Active TSS	Left Ventricle	heart
35	chr19:19516200-19518000	Active TSS	Lung	lung
36	chr19:19516200-19518000	Active TSS	A549	lung
37	chr19:19516200-19518000	Active TSS	NHLF	lung
38	chr19:19516200-19518200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr19:19516200-19518400	Active TSS	HSMMtube	muscle
40	chr19:19516400-19517800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr19:19516400-19517800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr19:19516400-19517800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr19:19516400-19518200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr19:19516400-19518200	Active TSS	Pancreas	Pancrea
45	chr19:19516600-19518000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr19:19516800-19517800	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
47	chr19:19517200-19518000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr19:19517400-19517800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
49	chr19:19517400-19517800	Flanking Active TSS	Placenta	Placenta
50	chr19:19517400-19517800	Bivalent/Poised TSS	HepG2	liver

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