Variant report

Variant	rs1358714
Chromosome Location	chr1:169079419-169079420
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	RCOR1	chr1:169079067-169079467	K562	blood:	n/a	n/a
2	MAZ	chr1:169078529-169079441	HepG2	liver:	n/a	n/a
3	GATA3	chr1:169077923-169079727	A549	lung:	n/a	n/a
4	CEBPB	chr1:169078976-169079461	MCF-7	breast:	n/a	chr1:169079234-169079245
5	GATA2	chr1:169078060-169080167	SH-SY5Y	brain:	n/a	n/a
6	FOSL2	chr1:169078097-169079875	A549	lung:	n/a	chr1:169079384-169079393
7	FOXA1	chr1:169078942-169079560	HepG2	liver:	n/a	chr1:169079347-169079359
8	USF2	chr1:169078955-169079506	Hela-S3	cervix:	n/a	n/a
9	GATA2	chr1:169078613-169079644	HUVEC	blood vessel:	n/a	n/a
10	POLR2A	chr1:169074709-169082197	HepG2	liver:	n/a	n/a
11	SP1	chr1:169078054-169079801	A549	lung:	n/a	chr1:169078121-169078128 chr1:169079011-169079021 chr1:169079007-169079021 chr1:169078205-169078212 chr1:169079011-169079020
12	RCOR1	chr1:169079216-169079486	K562	blood:	n/a	n/a
13	SIN3AK20	chr1:169078823-169079525	A549	lung:	n/a	n/a
14	FOSL2	chr1:169078849-169079478	A549	lung:	n/a	chr1:169079384-169079393
15	ATF3	chr1:169078757-169079518	A549	lung:	n/a	chr1:169079129-169079139 chr1:169079128-169079139 chr1:169079129-169079137 chr1:169079125-169079140 chr1:169079129-169079136 chr1:169079127-169079140 chr1:169079129-169079139
16	POLR2A	chr1:169078858-169079436	HepG2	liver:	n/a	n/a
17	KAP1	chr1:169078410-169079649	U2OS	brain:	n/a	n/a
18	ZBTB33	chr1:169078941-169079508	A549	lung:	n/a	n/a
19	CEBPB	chr1:169078137-169079550	Hela-S3	cervix:	n/a	chr1:169079234-169079245
20	JUND	chr1:169078888-169079452	A549	lung:	n/a	chr1:169079384-169079393
21	CEBPB	chr1:169078952-169079423	HepG2	liver:	n/a	chr1:169079234-169079245
22	SP1	chr1:169078489-169079534	HCT-116	colon:	n/a	chr1:169079011-169079021 chr1:169079007-169079021 chr1:169079011-169079020
23	POLR2A	chr1:169077925-169079433	Hela-S3	cervix:	n/a	n/a
24	RFX5	chr1:169078167-169079793	Hela-S3	cervix:	n/a	n/a
25	MAX	chr1:169077728-169079766	A549	lung:	n/a	chr1:169077893-169077902
26	MAX	chr1:169078082-169079482	A549	lung:	n/a	n/a
27	NFIC	chr1:169079026-169079461	HepG2	liver:	n/a	n/a
28	MBD4	chr1:169078847-169079483	HepG2	liver:	n/a	n/a
29	SP1	chr1:169078857-169079463	HepG2	liver:	n/a	chr1:169079011-169079021 chr1:169079007-169079021 chr1:169079011-169079020
30	ARID3A	chr1:169078211-169079476	HepG2	liver:	n/a	n/a
31	ATF3	chr1:169078864-169079464	A549	lung:	n/a	chr1:169079129-169079139 chr1:169079128-169079139 chr1:169079129-169079137 chr1:169079125-169079140 chr1:169079129-169079136 chr1:169079127-169079140 chr1:169079129-169079139
32	MYBL2	chr1:169078882-169079543	HepG2	liver:	n/a	n/a
33	TCF7L2	chr1:169078522-169079422	Hela-S3	cervix:	n/a	n/a
34	GATA3	chr1:169078821-169079557	A549	lung:	n/a	n/a
35	EP300	chr1:169079035-169079512	HepG2	liver:	n/a	chr1:169079201-169079214
36	KAP1	chr1:169077986-169079838	HEK293	kidney:	n/a	n/a
37	POLR2A	chr1:169078512-169079512	HCT-116	colon:	n/a	n/a
38	HDAC2	chr1:169078889-169079455	HepG2	liver:	n/a	n/a
39	POLR2A	chr1:169078684-169079774	HepG2	liver:	n/a	n/a
40	MAX	chr1:169078120-169079618	Hela-S3	cervix:	n/a	n/a
41	BCL3	chr1:169078807-169079739	A549	lung:	n/a	n/a
42	RAD21	chr1:169074403-169080488	SK-N-SH	brain:	n/a	chr1:169077102-169077114 chr1:169078627-169078641 chr1:169076719-169076731 chr1:169077792-169077801 chr1:169079920-169079939
43	MYBL2	chr1:169078600-169079565	HepG2	liver:	n/a	n/a
44	CREB1	chr1:169078496-169079458	HepG2	liver:	n/a	n/a
45	SP1	chr1:169078252-169079691	A549	lung:	n/a	chr1:169079011-169079021 chr1:169079007-169079021 chr1:169079011-169079020
46	ETS1	chr1:169078899-169079506	A549	lung:	n/a	chr1:169079218-169079231
47	REST	chr1:169074554-169080074	H1-neurons	neurons:	n/a	chr1:169075463-169075476 chr1:169077629-169077639 chr1:169078558-169078578 chr1:169076262-169076275 chr1:169076181-169076191 chr1:169075295-169075305 chr1:169075034-169075047 chr1:169075245-169075258
48	CEBPB	chr1:169078711-169079657	A549	lung:	n/a	chr1:169079234-169079245
49	TCF12	chr1:169077816-169079830	A549	lung:	n/a	n/a
50	CEBPB	chr1:169078977-169079530	A549	lung:	n/a	chr1:169079234-169079245

No.	Distal block	Cell Line	Cell type
1	chr1:169045786..169047308-chr1:169077237..169079576,2	K562	blood:
2	chr1:168907357..168910687-chr1:169076812..169079423,3	MCF-7	breast:
3	chr1:169077517..169079516-chr22:21993938..21996836,2	MCF-7	breast:

Variant related genes	Relation type
ATP1B1	TF binding region
ENSG00000273342	Chromatin interaction
ENSG00000213063	Chromatin interaction
ENSG00000128228	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1200135	0.83[ASN][1000 genomes]
rs1200136	1.00[JPT][hapmap]
rs1200137	1.00[JPT][hapmap]
rs1200138	1.00[JPT][hapmap]
rs1358715	1.00[JPT][hapmap]

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	nsv869415	chr1:168467284-169153863	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
2	esv3522071	chr1:168978325-169339044	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	esv3522072	chr1:168978325-169339044	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
4	nsv831858	chr1:169022383-169179068	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
5	esv10418	chr1:169059628-169621268	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169074800-169079600	Active TSS	Stomach Mucosa	stomach
2	chr1:169074800-169079800	Active TSS	Left Ventricle	heart
3	chr1:169074800-169080400	Active TSS	Right Ventricle	heart
4	chr1:169074800-169080800	Active TSS	Brain Inferior Temporal Lobe	brain
5	chr1:169075000-169080000	Active TSS	Brain Anterior Caudate	brain
6	chr1:169075000-169080000	Active TSS	GM12878-XiMat	blood
7	chr1:169075000-169080400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
8	chr1:169075000-169080600	Active TSS	Brain Cingulate Gyrus	brain
9	chr1:169076400-169080800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr1:169076400-169081000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr1:169076600-169080200	Flanking Active TSS	NH-A	brain
12	chr1:169076600-169080600	Flanking Active TSS	HUVEC	blood vessel
13	chr1:169076800-169079600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr1:169076800-169080000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
15	chr1:169076800-169080400	Active TSS	Brain Angular Gyrus	brain
16	chr1:169076800-169084800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr1:169077000-169079800	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr1:169077000-169080000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr1:169077000-169080200	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr1:169077200-169079600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr1:169077200-169079800	Enhancers	Primary T cells fromperipheralblood	blood
22	chr1:169077200-169079800	Active TSS	Colonic Mucosa	Colon
23	chr1:169077200-169080000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
24	chr1:169077200-169080200	Enhancers	NHDF-Ad	bronchial
25	chr1:169077200-169080600	Enhancers	Fetal Thymus	thymus
26	chr1:169077200-169082800	Weak transcription	Aorta	Aorta
27	chr1:169077200-169085200	Weak transcription	Spleen	Spleen
28	chr1:169077400-169079800	Flanking Active TSS	Brain Germinal Matrix	brain
29	chr1:169077400-169079800	Flanking Active TSS	HMEC	breast
30	chr1:169077400-169079800	Flanking Active TSS	NHLF	lung
31	chr1:169077400-169080000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr1:169077400-169080000	Flanking Active TSS	Fetal Brain Male	brain
33	chr1:169077400-169080000	Flanking Active TSS	Hela-S3	cervix
34	chr1:169077400-169080200	Flanking Active TSS	Stomach Smooth Muscle	stomach
35	chr1:169077400-169080600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr1:169077400-169080800	Weak transcription	Fetal Muscle Trunk	muscle
37	chr1:169077400-169081000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
38	chr1:169077400-169081000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
39	chr1:169077600-169079600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
40	chr1:169077600-169080000	Flanking Active TSS	Liver	Liver
41	chr1:169077800-169079600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr1:169077800-169079600	Flanking Active TSS	Fetal Brain Female	brain
43	chr1:169078000-169079800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr1:169078000-169080000	Enhancers	H1 Cell Line	embryonic stem cell
45	chr1:169078000-169080600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr1:169078000-169080800	Enhancers	Placenta Amnion	Placenta Amnion
47	chr1:169078200-169079600	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr1:169078200-169080000	Enhancers	HSMMtube	muscle
49	chr1:169078200-169080400	Weak transcription	Small Intestine	intestine
50	chr1:169078200-169080600	Active TSS	A549	lung

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