Variant report

Variant	rs1358715
Chromosome Location	chr1:169079680-169079681
allele	C/T
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	GATA3	chr1:169077923-169079727	A549	lung:	n/a	n/a
2	WRNIP1	chr1:169079484-169079684	GM12878	blood:	n/a	n/a
3	NR3C1	chr1:169079565-169079872	A549	lung:	n/a	n/a
4	GATA2	chr1:169078060-169080167	SH-SY5Y	brain:	n/a	n/a
5	FOSL2	chr1:169078097-169079875	A549	lung:	n/a	chr1:169079384-169079393
6	POLR2A	chr1:169074709-169082197	HepG2	liver:	n/a	n/a
7	SP1	chr1:169078054-169079801	A549	lung:	n/a	chr1:169078121-169078128 chr1:169079011-169079021 chr1:169079007-169079021 chr1:169078205-169078212 chr1:169079011-169079020
8	NR3C1	chr1:169079434-169079906	A549	lung:	n/a	n/a
9	GATA3	chr1:169079653-169079893	SH-SY5Y	brain:	n/a	n/a
10	RFX5	chr1:169078167-169079793	Hela-S3	cervix:	n/a	n/a
11	MAX	chr1:169077728-169079766	A549	lung:	n/a	chr1:169077893-169077902
12	ZNF384	chr1:169079663-169079966	GM12878	blood:	n/a	n/a
13	KAP1	chr1:169077986-169079838	HEK293	kidney:	n/a	n/a
14	POLR2A	chr1:169078684-169079774	HepG2	liver:	n/a	n/a
15	BCL3	chr1:169078807-169079739	A549	lung:	n/a	n/a
16	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
17	SP1	chr1:169078252-169079691	A549	lung:	n/a	chr1:169079011-169079021 chr1:169079007-169079021 chr1:169079011-169079020
18	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
19	TCF12	chr1:169077816-169079830	A549	lung:	n/a	n/a
20	RFX5	chr1:169074571-169080541	SK-N-SH	brain:	n/a	chr1:169077634-169077643
21	MAX	chr1:169079598-169079748	GM12878	blood:	n/a	n/a
22	NR3C1	chr1:169079609-169079770	A549	lung:	n/a	n/a
23	POLR2A	chr1:169079560-169079849	Hela-S3	cervix:	n/a	n/a
24	EP300	chr1:169078517-169079711	A549	lung:	n/a	chr1:169079201-169079214
25	TCF7L2	chr1:169079025-169079732	HepG2	liver:	n/a	n/a
26	POLR2A	chr1:169076359-169080059	A549	lung:	n/a	n/a
27	REST	chr1:169077835-169080008	A549	lung:	n/a	chr1:169078558-169078578
28	POLR2A	chr1:169074261-169080200	HepG2	liver:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:169079632-169079682	IMR90	lung:	fetal
2	chr1:169079632-169079682	HRCEpiC	kidney:	n/a
3	chr1:169079632-169079682	SK-N-SH	brain:	n/a
4	chr1:169079632-169079682	PFSK-1	brain:	n/a
5	chr1:169079632-169079682	AG04449	skin:	fetal
6	chr1:169079632-169079682	SAEC	small airway:	n/a
7	chr1:169079632-169079682	NH-A	brain:	n/a
8	chr1:169079632-169079682	HCT-116	colon:	n/a
9	chr1:169079632-169079682	Jurkat	blood:	n/a
10	chr1:169079632-169079682	AG04450	lung:	fetal
11	chr1:169079632-169079682	NHDF-neo	bronchial:	n/a
12	chr1:169079632-169079682	K562	blood:	n/a
13	chr1:169079632-169079682	MCF10A-Er-Src	breast:	n/a
14	chr1:169079632-169079682	HL-60	blood:	n/a
15	chr1:169079632-169079682	HepG2	liver:	n/a
16	chr1:169079632-169079682	U87	brain:	n/a
17	chr1:169079632-169079682	PANC-1	pancreas:	n/a
18	chr1:169079632-169079682	GM19239	blood:	n/a
19	chr1:169079632-169079682	GM06990	blood:	n/a
20	chr1:169079632-169079682	HCM	heart:	n/a
21	chr1:169079632-169079682	MCF-7	breast:	n/a
22	chr1:169079632-169079682	HRE	kidney:	n/a
23	chr1:169079632-169079682	NHBE	bronchial:	n/a
24	chr1:169079632-169079682	AG10803	skin:	n/a
25	chr1:169079632-169079682	ovcar-3	ovarian:	n/a
26	chr1:169079632-169079682	HCPEpiC	choroid plexus:	n/a
27	chr1:169079632-169079682	HUVEC	blood vessel:	n/a
28	chr1:169079632-169079682	HEEpiC	esophagus:	n/a
29	chr1:169079632-169079682	AG09309	skin:	n/a
30	chr1:169079632-169079682	HNPCEpiC	eye:	n/a
31	chr1:169079632-169079682	H1-hESC	embryonic stem cell:	embryo
32	chr1:169079632-169079682	ECC-1	luminal epithelium:	n/a
33	chr1:169079632-169079682	AG09319	gingival:	n/a
34	chr1:169079632-169079682	GM12891	blood:	n/a
35	chr1:169079632-169079682	ProgFib	skin:	n/a
36	chr1:169079632-169079682	NT2-D1	testis:	n/a
37	chr1:169079632-169079682	HCF	heart:	n/a
38	chr1:169079632-169079682	HAEpiC	amniotic membrane:	n/a
39	chr1:169079632-169079682	AoSMC	blood vessel:	n/a
40	chr1:169079632-169079682	PrEC	prostate:	n/a
41	chr1:169079632-169079682	BJ	skin:	n/a
42	chr1:169079632-169079682	SKMC	muscle:	n/a
43	chr1:169079632-169079682	HIPEpiC	eye:	n/a
44	chr1:169079632-169079682	SK-N-MC	brain:	n/a
45	chr1:169079632-169079682	A549	lung:	n/a
46	chr1:169079632-169079682	HMEC	breast:	n/a
47	chr1:169079632-169079682	CMK	blood:	n/a
48	chr1:169079632-169079682	Hepatocyte	liver:	n/a
49	chr1:169079632-169079682	SK-N-SH_RA	brain:	n/a
50	chr1:169079632-169079682	HPAEpiC	pulmonary alveolar:	n/a

Variant related genes	Relation type
ATP1B1	TF binding region
ATP1B1	CpG island

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1200136	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1200137	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs1200138	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs1358714	1.00[JPT][hapmap]
rs61803311	0.98[ASN][1000 genomes]
rs61803312	0.98[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	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:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169074800-169079800	Active TSS	Left Ventricle	heart
2	chr1:169074800-169080400	Active TSS	Right Ventricle	heart
3	chr1:169074800-169080800	Active TSS	Brain Inferior Temporal Lobe	brain
4	chr1:169075000-169080000	Active TSS	Brain Anterior Caudate	brain
5	chr1:169075000-169080000	Active TSS	GM12878-XiMat	blood
6	chr1:169075000-169080400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
7	chr1:169075000-169080600	Active TSS	Brain Cingulate Gyrus	brain
8	chr1:169076400-169080800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr1:169076400-169081000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr1:169076600-169080200	Flanking Active TSS	NH-A	brain
11	chr1:169076600-169080600	Flanking Active TSS	HUVEC	blood vessel
12	chr1:169076800-169080000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
13	chr1:169076800-169080400	Active TSS	Brain Angular Gyrus	brain
14	chr1:169076800-169084800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr1:169077000-169079800	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr1:169077000-169080000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr1:169077000-169080200	Enhancers	Primary T helper cells PMA-I stimulated	--
18	chr1:169077200-169079800	Enhancers	Primary T cells fromperipheralblood	blood
19	chr1:169077200-169079800	Active TSS	Colonic Mucosa	Colon
20	chr1:169077200-169080000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
21	chr1:169077200-169080200	Enhancers	NHDF-Ad	bronchial
22	chr1:169077200-169080600	Enhancers	Fetal Thymus	thymus
23	chr1:169077200-169082800	Weak transcription	Aorta	Aorta
24	chr1:169077200-169085200	Weak transcription	Spleen	Spleen
25	chr1:169077400-169079800	Flanking Active TSS	Brain Germinal Matrix	brain
26	chr1:169077400-169079800	Flanking Active TSS	HMEC	breast
27	chr1:169077400-169079800	Flanking Active TSS	NHLF	lung
28	chr1:169077400-169080000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr1:169077400-169080000	Flanking Active TSS	Fetal Brain Male	brain
30	chr1:169077400-169080000	Flanking Active TSS	Hela-S3	cervix
31	chr1:169077400-169080200	Flanking Active TSS	Stomach Smooth Muscle	stomach
32	chr1:169077400-169080600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr1:169077400-169080800	Weak transcription	Fetal Muscle Trunk	muscle
34	chr1:169077400-169081000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
35	chr1:169077400-169081000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
36	chr1:169077600-169080000	Flanking Active TSS	Liver	Liver
37	chr1:169078000-169079800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr1:169078000-169080000	Enhancers	H1 Cell Line	embryonic stem cell
39	chr1:169078000-169080600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr1:169078000-169080800	Enhancers	Placenta Amnion	Placenta Amnion
41	chr1:169078200-169080000	Enhancers	HSMMtube	muscle
42	chr1:169078200-169080400	Weak transcription	Small Intestine	intestine
43	chr1:169078200-169080600	Active TSS	A549	lung
44	chr1:169078400-169079800	Flanking Active TSS	Fetal Heart	heart
45	chr1:169078400-169079800	Enhancers	Dnd41	blood
46	chr1:169078400-169080400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr1:169078400-169080400	Active TSS	Psoas Muscle	Psoas
48	chr1:169078400-169081400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr1:169078400-169083800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr1:169078600-169079800	Enhancers	Primary T helper naive cells from peripheral blood	blood

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