Variant report

Variant	rs35449009
Chromosome Location	chr19:19779012-19779013
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:120)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:120 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr19:19779006-19779601	HepG2	liver:	n/a	n/a
2	MTA3	chr19:19778977-19779890	GM12878	blood:	n/a	n/a
3	POLR2A	chr19:19778811-19780284	GM12892	blood:	n/a	n/a
4	POU2F2	chr19:19778843-19779274	GM12878	blood:	n/a	n/a
5	TAF1	chr19:19778941-19780043	GM12878	blood:	n/a	n/a
6	POLR2A	chr19:19778954-19780049	GM15510	blood:	n/a	n/a
7	FOXM1	chr19:19778796-19780032	GM12878	blood:	n/a	n/a
8	POLR2A	chr19:19778737-19779872	HepG2	liver:	n/a	n/a
9	YY1	chr19:19779007-19780020	HepG2	liver:	n/a	chr19:19779634-19779645 chr19:19779998-19780009
10	MYBL2	chr19:19778830-19779862	HepG2	liver:	n/a	n/a
11	HEY1	chr19:19778866-19779941	HepG2	liver:	n/a	n/a
12	POLR2A	chr19:19778818-19780227	GM12892	blood:	n/a	n/a
13	POLR2A	chr19:19778837-19780210	Raji	blood:	n/a	n/a
14	POU2F2	chr19:19778823-19780026	GM12878	blood:	n/a	n/a
15	RELA	chr19:19778949-19779908	GM15510	blood:	n/a	n/a
16	MAX	chr19:19779004-19779831	GM12878	blood:	n/a	n/a
17	CHD1	chr19:19778944-19780324	GM12878	blood:	n/a	n/a
18	EBF1	chr19:19779000-19779779	GM12878	blood:	n/a	n/a
19	POLR2A	chr19:19778878-19780030	GM12892	blood:	n/a	n/a
20	CEBPB	chr19:19779001-19779365	HepG2	liver:	n/a	n/a
21	EP300	chr19:19778979-19779814	GM12878	blood:	n/a	n/a
22	CEBPB	chr19:19779008-19779473	HepG2	liver:	n/a	n/a
23	ZNF384	chr19:19778748-19779768	GM12878	blood:	n/a	n/a
24	POLR2A	chr19:19778948-19779987	GM12878	blood:	n/a	n/a
25	POLR2A	chr19:19778870-19780600	GM12878	blood:	n/a	n/a
26	POLR2A	chr19:19778921-19780278	GM19193	blood:	n/a	n/a
27	POLR2A	chr19:19778774-19780372	H1-hESC	embryonic stem cell:	n/a	n/a
28	POLR2A	chr19:19778885-19780263	GM12891	blood:	n/a	n/a
29	RELA	chr19:19778919-19780038	GM19099	blood:	n/a	n/a
30	POLR2A	chr19:19779004-19779978	H1-hESC	embryonic stem cell:	n/a	n/a
31	PAX5	chr19:19778828-19779839	GM12878	blood:	n/a	n/a
32	MAZ	chr19:19778920-19779907	GM12878	blood:	n/a	n/a
33	EBF1	chr19:19778997-19779308	GM12878	blood:	n/a	n/a
34	TCF12	chr19:19778929-19779469	H1-hESC	embryonic stem cell:	n/a	n/a
35	POLR2A	chr19:19778729-19779970	PFSK-1	brain:	n/a	n/a
36	POLR2A	chr19:19778968-19780083	GM12892	blood:	n/a	n/a
37	EBF1	chr19:19778996-19779336	GM12878	blood:	n/a	n/a
38	BHLHE40	chr19:19778942-19779864	GM12878	blood:	n/a	n/a
39	CHD2	chr19:19778988-19779909	GM12878	blood:	n/a	n/a
40	SPI1	chr19:19778950-19779212	GM12878	blood:	n/a	n/a
41	SP1	chr19:19778804-19779943	H1-hESC	embryonic stem cell:	n/a	chr19:19779590-19779604 chr19:19779527-19779536 chr19:19779525-19779537 chr19:19779525-19779537 chr19:19779352-19779363
42	CEBPB	chr19:19779010-19779736	HepG2	liver:	n/a	n/a
43	POLR2A	chr19:19778809-19781790	GM12878	blood:	n/a	n/a
44	SP1	chr19:19778917-19779853	GM12878	blood:	n/a	chr19:19779590-19779604 chr19:19779527-19779536 chr19:19779525-19779537 chr19:19779525-19779537 chr19:19779352-19779363
45	PAX5	chr19:19778988-19779893	GM12878	blood:	n/a	n/a
46	EP300	chr19:19778966-19779849	GM12878	blood:	n/a	n/a
47	RUNX3	chr19:19778809-19779997	GM12878	blood:	n/a	n/a
48	POLR2A	chr19:19778959-19780175	GM12891	blood:	n/a	n/a
49	ELF1	chr19:19778883-19780623	GM12878	blood:	n/a	chr19:19780388-19780401 chr19:19779757-19779768 chr19:19779784-19779796 chr19:19779758-19779767
50	YY1	chr19:19778875-19779231	GM12878	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:19778986-19779036	AG09309	skin:	n/a
2	chr19:19778986-19779036	HPAEpiC	pulmonary alveolar:	n/a
3	chr19:19778986-19779036	PANC-1	pancreas:	n/a
4	chr19:19778986-19779036	AG09319	gingival:	n/a
5	chr19:19778986-19779036	SKMC	muscle:	n/a
6	chr19:19778986-19779036	GM12878	blood:	n/a
7	chr19:19778986-19779036	Jurkat	blood:	n/a
8	chr19:19778986-19779036	RPTEC	kidney:	n/a
9	chr19:19778986-19779036	AoSMC	blood vessel:	n/a
10	chr19:19778986-19779036	CMK	blood:	n/a
11	chr19:19778986-19779036	HMEC	breast:	n/a
12	chr19:19778986-19779036	U87	brain:	n/a
13	chr19:19778986-19779036	ECC-1	luminal epithelium:	n/a
14	chr19:19778986-19779036	ProgFib	skin:	n/a
15	chr19:19778986-19779036	HAEpiC	amniotic membrane:	n/a
16	chr19:19778986-19779036	GM12891	blood:	n/a
17	chr19:19778986-19779036	Hela-S3	cervix:	n/a
18	chr19:19778986-19779036	SAEC	small airway:	n/a
19	chr19:19778986-19779036	BE2_C	brain:	n/a
20	chr19:19778986-19779036	ovcar-3	ovarian:	n/a
21	chr19:19778986-19779036	NT2-D1	testis:	n/a
22	chr19:19778986-19779036	HCM	heart:	n/a
23	chr19:19778986-19779036	HUVEC	blood vessel:	n/a
24	chr19:19778986-19779036	AG04449	skin:	fetal
25	chr19:19778986-19779036	HL-60	blood:	n/a
26	chr19:19778986-19779036	K562	blood:	n/a
27	chr19:19778986-19779036	MCF-7	breast:	n/a
28	chr19:19778986-19779036	LNCaP	prostate:	n/a
29	chr19:19778986-19779036	SK-N-SH_RA	brain:	n/a
30	chr19:19778986-19779036	PrEC	prostate:	n/a
31	chr19:19778986-19779036	GM06990	blood:	n/a
32	chr19:19778986-19779036	HCT-116	colon:	n/a
33	chr19:19778986-19779036	HCPEpiC	choroid plexus:	n/a
34	chr19:19778986-19779036	HEK293	kidney:	embryo
35	chr19:19778986-19779036	AG04450	lung:	fetal
36	chr19:19778986-19779036	NB4	blood:	n/a
37	chr19:19778986-19779036	BJ	skin:	n/a
38	chr19:19778986-19779036	HRCEpiC	kidney:	n/a
39	chr19:19778986-19779036	HepG2	liver:	n/a
40	chr19:19778986-19779036	A549	lung:	n/a
41	chr19:19778986-19779036	HRE	kidney:	n/a
42	chr19:19778986-19779036	HNPCEpiC	eye:	n/a
43	chr19:19778986-19779036	NHDF-neo	bronchial:	n/a
44	chr19:19778986-19779036	GM12892	blood:	n/a
45	chr19:19778986-19779036	SK-N-SH	brain:	n/a
46	chr19:19778986-19779036	HIPEpiC	eye:	n/a
47	chr19:19778986-19779036	IMR90	lung:	fetal
48	chr19:19778986-19779036	T-47D	breast:	n/a
49	chr19:19778986-19779036	H1-hESC	embryonic stem cell:	embryo
50	chr19:19778986-19779036	AG10803	skin:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:19772164..19776257-chr19:19777737..19781997,10	MCF-7	breast:
2	chr19:19702026..19704512-chr19:19777801..19779336,2	MCF-7	breast:

No data

Variant related genes	Relation type
ZNF101	TF binding region
ATP13A1	TF binding region
ZNF101	CpG island
ATP13A1	CpG island
ENSG00000105726	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10402516	0.84[ASN][1000 genomes]
rs10405234	0.82[ASN][1000 genomes]
rs10423311	0.82[ASN][1000 genomes]
rs11667828	0.89[CHD][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs11670710	0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs12974308	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12976582	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12976826	0.81[EUR][1000 genomes]
rs12980482	0.86[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12982049	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12982500	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12983292	0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs1433079	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16994684	0.83[EUR][1000 genomes]
rs16996174	0.83[EUR][1000 genomes]
rs16996227	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2288865	0.82[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs2288867	0.93[CHD][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs2304129	0.81[EUR][1000 genomes]
rs28472726	0.80[ASN][1000 genomes]
rs28635562	0.82[ASN][1000 genomes]
rs34558847	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35035906	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35445661	1.00[CEU][hapmap];0.82[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35792080	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35801717	0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3752152	1.00[CEU][hapmap];0.82[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3794996	1.00[CEU][hapmap];1.00[JPT][hapmap];0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4808209	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4808974	0.81[EUR][1000 genomes]
rs4808976	0.82[ASN][1000 genomes]
rs4808979	0.87[ASN][1000 genomes]
rs4808981	0.94[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs7247142	0.91[ASN][1000 genomes]
rs7249670	0.99[ASN][1000 genomes]
rs7251924	0.95[ASN][1000 genomes]
rs74181147	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74181148	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74181149	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74181150	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74181151	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	esv1828240	chr19:19591146-19900900	Weak transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv1063273	chr19:19591146-20061367	ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	nsv911309	chr19:19727042-19784891	Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
4	nsv911310	chr19:19753882-19784891	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases
5	esv3330851	chr19:19755507-19852881	Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19775200-19779200	Weak transcription	Stomach Mucosa	stomach
2	chr19:19775200-19779200	Weak transcription	A549	lung
3	chr19:19775200-19779200	Weak transcription	NHDF-Ad	bronchial
4	chr19:19775600-19779200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr19:19777600-19779600	Flanking Active TSS	Dnd41	blood
6	chr19:19778200-19779600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr19:19778200-19780400	Active TSS	Rectal Mucosa Donor 29	rectum
8	chr19:19778200-19781000	Active TSS	Primary T cells from cord blood	blood
9	chr19:19778400-19779400	Flanking Active TSS	Primary hematopoietic stem cells	blood
10	chr19:19778400-19779400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
11	chr19:19778400-19779400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
12	chr19:19778400-19779600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
13	chr19:19778400-19779600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr19:19778600-19779400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
15	chr19:19778600-19779600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
16	chr19:19778800-19779400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
17	chr19:19778800-19779400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
18	chr19:19778800-19779400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
19	chr19:19778800-19779400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
20	chr19:19778800-19779400	Flanking Active TSS	Primary B cells from cord blood	blood
21	chr19:19778800-19779400	Flanking Active TSS	Primary B cells from peripheral blood	blood
22	chr19:19778800-19779400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
23	chr19:19778800-19779400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
24	chr19:19778800-19779400	Flanking Active TSS	Fetal Thymus	thymus
25	chr19:19778800-19779400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
26	chr19:19778800-19780400	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
27	chr19:19778800-19780400	Active TSS	Rectal Smooth Muscle	rectum
28	chr19:19778800-19780600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
29	chr19:19778800-19780600	Active TSS	Primary T killer memory cells from peripheral blood	blood
30	chr19:19778800-19780600	Active TSS	Brain Hippocampus Middle	brain
31	chr19:19778800-19781400	Active TSS	iPS-15b Cell Line	embryonic stem cell
32	chr19:19778800-19781600	Active TSS	H9 Cell Line	embryonic stem cell
33	chr19:19779000-19779200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr19:19779000-19779200	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr19:19779000-19779200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr19:19779000-19779200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr19:19779000-19779200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr19:19779000-19779200	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr19:19779000-19779200	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
40	chr19:19779000-19779200	Flanking Active TSS	Brain Angular Gyrus	brain
41	chr19:19779000-19779200	Flanking Active TSS	Brain Cingulate Gyrus	brain
42	chr19:19779000-19779200	Flanking Active TSS	Brain Germinal Matrix	brain
43	chr19:19779000-19779200	Flanking Active TSS	Brain Substantia Nigra	brain
44	chr19:19779000-19779200	Active TSS	Duodenum Mucosa	Duodenum
45	chr19:19779000-19779200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
46	chr19:19779000-19779200	Flanking Active TSS	Fetal Intestine Small	intestine
47	chr19:19779000-19779200	Flanking Active TSS	Fetal Stomach	stomach
48	chr19:19779000-19779200	Flanking Active TSS	Left Ventricle	heart
49	chr19:19779000-19779200	Enhancers	Pancreas	Pancrea
50	chr19:19779000-19779200	Flanking Active TSS	Thymus	Thymus

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