Variant report

Variant	rs7248731
Chromosome Location	chr19:36822594-36822595
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:212)
CpG islands
(count:122)
Chromatin interactive
region (count:0)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:212 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr19:36822460-36822610	SK-N-SH_RA	brain:	n/a	n/a
2	TCF12	chr19:36822149-36822949	ECC-1	luminal epithelium:	n/a	n/a
3	KAP1	chr19:36822355-36823034	U2OS	brain:	n/a	n/a
4	POLR2A	chr19:36822372-36822982	GM12891	blood:	n/a	n/a
5	CTCF	chr19:36822480-36822630	HEK293	kidney:	n/a	n/a
6	GABPA	chr19:36822347-36822806	H1-hESC	embryonic stem cell:	n/a	n/a
7	ZNF143	chr19:36822439-36822895	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr19:36822272-36823060	ECC-1	luminal epithelium:	n/a	n/a
9	CTCF	chr19:36822542-36822719	Kidney_OC	kidney:	n/a	n/a
10	MYC	chr19:36822374-36822799	MCF10A-Er-Src	breast:	n/a	n/a
11	POLR2A	chr19:36822254-36823068	PFSK-1	brain:	n/a	n/a
12	SIN3AK20	chr19:36822353-36823080	H1-hESC	embryonic stem cell:	n/a	n/a
13	SPI1	chr19:36822490-36822704	GM12878	blood:	n/a	n/a
14	POLR2A	chr19:36822445-36822731	ProgFib	skin:	n/a	n/a
15	POLR2A	chr19:36822081-36822851	PANC-1	pancreas:	n/a	n/a
16	MAX	chr19:36822226-36822825	A549	lung:	n/a	n/a
17	POLR2A	chr19:36822186-36823076	H1-hESC	embryonic stem cell:	n/a	n/a
18	MAFK	chr19:36822552-36822868	H1-hESC	embryonic stem cell:	n/a	n/a
19	ELF1	chr19:36822336-36823071	MCF-7	breast:	n/a	chr19:36822638-36822651
20	CTCF	chr19:36822460-36822610	AG04449	skin:	n/a	n/a
21	MAX	chr19:36822248-36823047	SK-N-SH	brain:	n/a	n/a
22	ZNF274	chr19:36822270-36822781	GM08714	blood:	n/a	n/a
23	CHD2	chr19:36822518-36822932	GM12878	blood:	n/a	n/a
24	CTCF	chr19:36822480-36822630	HCPEpiC	choroid plexus:	n/a	n/a
25	GABPA	chr19:36822441-36822836	K562	blood:	n/a	n/a
26	POLR2A	chr19:36822449-36822651	Gliobla	brain:	n/a	n/a
27	TCF12	chr19:36822339-36822772	H1-hESC	embryonic stem cell:	n/a	n/a
28	CTCF	chr19:36822580-36822730	NHEK	skin:	n/a	n/a
29	BHLHE40	chr19:36822480-36822814	GM12878	blood:	n/a	n/a
30	USF1	chr19:36822500-36822665	GM12878	blood:	n/a	n/a
31	TCF7L2	chr19:36822320-36823051	PANC-1	pancreas:	n/a	n/a
32	MYC	chr19:36822402-36822732	MCF-7	breast:	n/a	n/a
33	TAF1	chr19:36822122-36823155	H1-hESC	embryonic stem cell:	n/a	n/a
34	CTCF	chr19:36822500-36822650	AG04449	skin:	n/a	n/a
35	E2F6	chr19:36822151-36823075	H1-hESC	embryonic stem cell:	n/a	chr19:36822898-36822905 chr19:36822896-36822906 chr19:36822897-36822905 chr19:36822897-36822905
36	TCF12	chr19:36822213-36822791	A549	lung:	n/a	n/a
37	CTCF	chr19:36822500-36822650	HMEC	breast:	n/a	n/a
38	SP1	chr19:36822369-36822974	GM12878	blood:	n/a	chr19:36822674-36822695 chr19:36822809-36822830 chr19:36822778-36822799
39	POLR2A	chr19:36822439-36822762	K562	blood:	n/a	n/a
40	POLR2A	chr19:36820896-36823953	H1-hESC	embryonic stem cell:	n/a	n/a
41	POLR2A	chr19:36822373-36822997	Raji	blood:	n/a	n/a
42	RFX5	chr19:36822263-36823063	H1-hESC	embryonic stem cell:	n/a	chr19:36822696-36822711 chr19:36822718-36822732 chr19:36822717-36822733
43	POLR2A	chr19:36822273-36822793	HL-60	blood:	n/a	n/a
44	CTCF	chr19:36822560-36822710	HRE	kidney:	n/a	n/a
45	CTCF	chr19:36822583-36822628	GM12878	blood:	n/a	n/a
46	MYC	chr19:36822448-36822606	GM12878	blood:	n/a	n/a
47	RFX5	chr19:36822516-36822898	K562	blood:	n/a	chr19:36822696-36822711 chr19:36822718-36822732 chr19:36822717-36822733
48	POLR2A	chr19:36822405-36822672	MCF-7	breast:	n/a	n/a
49	POLR2A	chr19:36821366-36823418	H1-hESC	embryonic stem cell:	n/a	n/a
50	POLR2A	chr19:36822191-36823047	H1-hESC	embryonic stem cell:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:36822549-36822599	NHBE	bronchial:	n/a
2	chr19:36822549-36822599	Jurkat	blood:	n/a
3	chr19:36822549-36822599	PANC-1	pancreas:	n/a
4	chr19:36822564-36822614	MCF-7	breast:	n/a
5	chr19:36822549-36822599	T-47D	breast:	n/a
6	chr19:36822549-36822599	HRE	kidney:	n/a
7	chr19:36822549-36822599	HUVEC	blood vessel:	n/a
8	chr19:36822564-36822614	AG04450	lung:	fetal
9	chr19:36822564-36822614	ovcar-3	ovarian:	n/a
10	chr19:36822549-36822599	AG09309	skin:	n/a
11	chr19:36822564-36822614	HPAEpiC	pulmonary alveolar:	n/a
12	chr19:36822549-36822599	NB4	blood:	n/a
13	chr19:36822549-36822599	GM12891	blood:	n/a
14	chr19:36822564-36822614	HIPEpiC	eye:	n/a
15	chr19:36822549-36822599	BE2_C	brain:	n/a
16	chr19:36822564-36822614	HepG2	liver:	n/a
17	chr19:36822564-36822614	AG04449	skin:	fetal
18	chr19:36822549-36822599	SAEC	small airway:	n/a
19	chr19:36822549-36822599	MCF10A-Er-Src	breast:	n/a
20	chr19:36822564-36822614	NHBE	bronchial:	n/a
21	chr19:36822564-36822614	AG09309	skin:	n/a
22	chr19:36822564-36822614	Hepatocyte	liver:	n/a
23	chr19:36822549-36822599	SKMC	muscle:	n/a
24	chr19:36822564-36822614	AG09319	gingival:	n/a
25	chr19:36822564-36822614	BE2_C	brain:	n/a
26	chr19:36822564-36822614	HCF	heart:	n/a
27	chr19:36822549-36822599	SK-N-MC	brain:	n/a
28	chr19:36822564-36822614	GM19239	blood:	n/a
29	chr19:36822549-36822599	ovcar-3	ovarian:	n/a
30	chr19:36822564-36822614	BJ	skin:	n/a
31	chr19:36822564-36822614	HAEpiC	amniotic membrane:	n/a
32	chr19:36822564-36822614	SK-N-SH	brain:	n/a
33	chr19:36822549-36822599	ECC-1	luminal epithelium:	n/a
34	chr19:36822549-36822599	HPAEpiC	pulmonary alveolar:	n/a
35	chr19:36822549-36822599	HEK293	kidney:	embryo
36	chr19:36822549-36822599	AG10803	skin:	n/a
37	chr19:36822549-36822599	GM19239	blood:	n/a
38	chr19:36822549-36822599	RPTEC	kidney:	n/a
39	chr19:36822564-36822614	SK-N-SH_RA	brain:	n/a
40	chr19:36822549-36822599	AG04450	lung:	fetal
41	chr19:36822564-36822614	PFSK-1	brain:	n/a
42	chr19:36822564-36822614	T-47D	breast:	n/a
43	chr19:36822549-36822599	SK-N-SH_RA	brain:	n/a
44	chr19:36822549-36822599	HCT-116	colon:	n/a
45	chr19:36822564-36822614	GM12878	blood:	n/a
46	chr19:36822564-36822614	HCM	heart:	n/a
47	chr19:36822549-36822599	LNCaP	prostate:	n/a
48	chr19:36822549-36822599	PrEC	prostate:	n/a
49	chr19:36822549-36822599	HEEpiC	esophagus:	n/a
50	chr19:36822549-36822599	ProgFib	skin:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZFP14-1	chr19:36822349-36822602	ENSG00000232677

No data

Variant related genes	Relation type
LINC00665	TF binding region
LINC00665	CpG island

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs3098393	1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs3111555	0.82[AFR][1000 genomes]
rs3111556	0.82[AFR][1000 genomes]
rs62112568	0.82[AFR][1000 genomes]
rs62112569	0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv520020	chr19:36721368-36822594	Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv1063208	chr19:36743461-36847486	Strong transcription ZNF genes & repeats Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1056901	chr19:36749658-36847486	Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1061054	chr19:36751703-36847486	Strong transcription Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1055260	chr19:36752221-36847486	ZNF genes & repeats Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv1056850	chr19:36752663-36847486	Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv1064983	chr19:36752663-36847625	Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv1057579	chr19:36752663-36847822	Strong transcription Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island lncRNA	6 gene(s)	inside rSNPs	diseases
9	esv1825146	chr19:36800927-36846993	ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island lncRNA	6 gene(s)	inside rSNPs	diseases
10	esv1837043	chr19:36800927-36846993	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv2474	chr19:36804469-36865415	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	esv2763143	chr19:36805705-36847498	Strong transcription Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island lncRNA	3 gene(s)	inside rSNPs	diseases
13	nsv1059568	chr19:36806475-36847864	Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island lncRNA	3 gene(s)	inside rSNPs	diseases
14	esv1823621	chr19:36807288-36845863	Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent/Poised TSS	TF binding region CpG island lncRNA	3 gene(s)	inside rSNPs	diseases
15	nsv1064343	chr19:36807288-36853102	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36816400-36823600	ZNF genes & repeats	Liver	Liver
2	chr19:36818000-36823200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
3	chr19:36819200-36823200	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
4	chr19:36820000-36823600	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr19:36820400-36823000	ZNF genes & repeats	Fetal Thymus	thymus
6	chr19:36820400-36823400	ZNF genes & repeats	Fetal Intestine Large	intestine
7	chr19:36820800-36823600	Active TSS	H9 Cell Line	embryonic stem cell
8	chr19:36821000-36823400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr19:36821000-36823600	Active TSS	HUES6 Cell Line	embryonic stem cell
10	chr19:36821200-36823600	Active TSS	iPS-15b Cell Line	embryonic stem cell
11	chr19:36821200-36823600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr19:36821200-36823600	Active TSS	Fetal Kidney	kidney
13	chr19:36821400-36823200	Active TSS	Fetal Stomach	stomach
14	chr19:36821400-36823400	Active TSS	Fetal Lung	lung
15	chr19:36821400-36823600	Active TSS	ES-I3 Cell Line	embryonic stem cell
16	chr19:36821400-36823600	Active TSS	H1 Cell Line	embryonic stem cell
17	chr19:36821400-36823600	Active TSS	HUES48 Cell Line	embryonic stem cell
18	chr19:36821400-36823600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr19:36821400-36823600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
20	chr19:36821400-36823600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr19:36821600-36822600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
22	chr19:36821600-36822600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr19:36821600-36822800	Active TSS	iPS-20b Cell Line	embryonic stem cell
24	chr19:36821600-36822800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr19:36821600-36822800	Active TSS	Brain Germinal Matrix	brain
26	chr19:36821600-36823200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr19:36821600-36823200	Active TSS	Breast Myoepithelial Primary Cells	Breast
28	chr19:36821600-36823400	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
29	chr19:36821600-36823600	Active TSS	HUES64 Cell Line	embryonic stem cell
30	chr19:36821600-36823600	Active TSS	iPS-18 Cell Line	embryonic stem cell
31	chr19:36821600-36823600	Active TSS	Fetal Intestine Small	intestine
32	chr19:36821800-36823000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr19:36821800-36823000	Active TSS	Fetal Brain Male	brain
34	chr19:36821800-36823400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr19:36821800-36823400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr19:36821800-36823400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr19:36821800-36823400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr19:36821800-36823400	Active TSS	Right Ventricle	heart
39	chr19:36821800-36823600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr19:36821800-36823600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr19:36821800-36823600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr19:36821800-36823600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr19:36821800-36823600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr19:36821800-36824400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr19:36822000-36822800	Active TSS	Brain Cingulate Gyrus	brain
46	chr19:36822000-36822800	Active TSS	Brain Hippocampus Middle	brain
47	chr19:36822000-36822800	Active TSS	Fetal Brain Female	brain
48	chr19:36822000-36822800	Active TSS	Ovary	ovary
49	chr19:36822000-36822800	Active TSS	Stomach Smooth Muscle	stomach
50	chr19:36822000-36822800	Active TSS	NHLF	lung

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