Variant report

Variant	rs7513355
Chromosome Location	chr1:113550625-113550626
allele	A/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	FOS	chr1:113550303-113551002	MCF10A-Er-Src	breast:	n/a	n/a
2	CEBPB	chr1:113550443-113550691	Hela-S3	cervix:	n/a	n/a
3	SPI1	chr1:113550320-113550750	HL-60	blood:	n/a	n/a
4	STAT3	chr1:113550390-113550931	MCF10A-Er-Src	breast:	n/a	chr1:113550542-113550549
5	FOS	chr1:113550383-113550857	MCF10A-Er-Src	breast:	n/a	n/a
6	SRF	chr1:113550442-113550628	HepG2	liver:	n/a	chr1:113550529-113550547 chr1:113550534-113550545 chr1:113550531-113550549 chr1:113550533-113550546
7	STAT3	chr1:113550360-113550802	MCF10A-Er-Src	breast:	n/a	chr1:113550542-113550549
8	FOS	chr1:113550339-113550985	MCF10A-Er-Src	breast:	n/a	n/a
9	MYC	chr1:113550467-113550667	MCF10A-Er-Src	breast:	n/a	n/a
10	FOS	chr1:113550396-113550955	MCF10A-Er-Src	breast:	n/a	n/a
11	STAT3	chr1:113550192-113550844	MCF10A-Er-Src	breast:	n/a	chr1:113550542-113550549 chr1:113550221-113550244
12	CEBPB	chr1:113550143-113550693	HepG2	liver:	n/a	chr1:113550277-113550290 chr1:113550279-113550290 chr1:113550279-113550288

Variant related genes	Relation type
ENSG00000236066	TF binding region

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs11102547	1.00[EUR][1000 genomes]
rs11102564	1.00[EUR][1000 genomes]
rs11102570	1.00[EUR][1000 genomes]
rs11102572	1.00[EUR][1000 genomes]
rs11102587	1.00[EUR][1000 genomes]
rs12058371	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12061638	1.00[EUR][1000 genomes]
rs12061679	1.00[EUR][1000 genomes]
rs12063125	1.00[EUR][1000 genomes]
rs12063286	1.00[EUR][1000 genomes]
rs12063903	1.00[EUR][1000 genomes]
rs12063907	1.00[EUR][1000 genomes]
rs12066276	1.00[EUR][1000 genomes]
rs12066409	1.00[EUR][1000 genomes]
rs12067551	0.89[AFR][1000 genomes]
rs12068534	1.00[EUR][1000 genomes]
rs12068812	1.00[EUR][1000 genomes]
rs12068820	1.00[EUR][1000 genomes]
rs12068935	1.00[EUR][1000 genomes]
rs12069411	1.00[EUR][1000 genomes]
rs12069981	1.00[EUR][1000 genomes]
rs12075099	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12075714	1.00[EUR][1000 genomes]
rs12078513	1.00[EUR][1000 genomes]
rs12079268	1.00[EUR][1000 genomes]
rs12079494	1.00[EUR][1000 genomes]
rs12079508	1.00[EUR][1000 genomes]
rs12079574	1.00[EUR][1000 genomes]
rs12084281	1.00[EUR][1000 genomes]
rs12090558	1.00[EUR][1000 genomes]
rs12093541	1.00[EUR][1000 genomes]
rs1216782	1.00[EUR][1000 genomes]
rs1216786	1.00[EUR][1000 genomes]
rs1216787	1.00[EUR][1000 genomes]
rs17030888	1.00[EUR][1000 genomes]
rs6657174	1.00[EUR][1000 genomes]
rs6676854	1.00[EUR][1000 genomes]
rs6680771	1.00[EUR][1000 genomes]
rs6680949	1.00[EUR][1000 genomes]
rs6699036	1.00[EUR][1000 genomes]
rs72990262	1.00[EUR][1000 genomes]
rs72996345	1.00[EUR][1000 genomes]
rs7511828	1.00[EUR][1000 genomes]
rs7518119	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7530614	1.00[EUR][1000 genomes]
rs7537295	1.00[EUR][1000 genomes]
rs7540515	1.00[EUR][1000 genomes]
rs7545283	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002971	chr1:112924725-113740584	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
2	nsv535059	chr1:112924725-113740584	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
3	nsv1010276	chr1:113123932-113740584	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	158 gene(s)	inside rSNPs	diseases
4	nsv533295	chr1:113167645-113589588	Flanking Active TSS Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
5	nsv1012119	chr1:113214869-113759081	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
6	nsv535060	chr1:113214869-113759081	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
7	nsv529238	chr1:113229946-113759080	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
8	nsv997426	chr1:113288282-113639507	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
9	nsv1004102	chr1:113295805-113551210	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
10	nsv999915	chr1:113360145-113684833	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
11	esv18293	chr1:113375437-113852815	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
12	nsv1007045	chr1:113425222-113839910	Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:113511200-113558000	Weak transcription	Primary T helper cells PMA-I stimulated	--
2	chr1:113511200-113558600	Weak transcription	NHDF-Ad	bronchial
3	chr1:113511200-113564000	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr1:113526600-113564200	Weak transcription	Placenta	Placenta
5	chr1:113526800-113558600	Weak transcription	GM12878-XiMat	blood
6	chr1:113528200-113556600	Weak transcription	Small Intestine	intestine
7	chr1:113529000-113554400	Weak transcription	Lung	lung
8	chr1:113533600-113555600	Weak transcription	Fetal Lung	lung
9	chr1:113535600-113552200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr1:113535600-113557000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr1:113535800-113564000	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr1:113535800-113564000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr1:113535800-113564200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr1:113535800-113568800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr1:113537200-113554800	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr1:113537400-113554200	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr1:113537600-113552800	Weak transcription	Fetal Thymus	thymus
18	chr1:113538600-113558600	Weak transcription	Spleen	Spleen
19	chr1:113539600-113564200	Weak transcription	Brain Germinal Matrix	brain
20	chr1:113541000-113573800	Weak transcription	Right Ventricle	heart
21	chr1:113541400-113553200	Weak transcription	Aorta	Aorta
22	chr1:113541400-113554800	Weak transcription	A549	lung
23	chr1:113541600-113551400	Weak transcription	NH-A	brain
24	chr1:113541600-113555600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr1:113541600-113564200	Weak transcription	Osteobl	bone
26	chr1:113541800-113552200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr1:113541800-113552800	Weak transcription	Ovary	ovary
28	chr1:113541800-113554800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr1:113541800-113554800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr1:113541800-113564000	Weak transcription	K562	blood
31	chr1:113542000-113551000	Weak transcription	Brain Cingulate Gyrus	brain
32	chr1:113542000-113552200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr1:113542000-113552800	Weak transcription	Brain Hippocampus Middle	brain
34	chr1:113542000-113554000	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr1:113542000-113554400	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr1:113542000-113558400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr1:113542000-113564000	Weak transcription	Hela-S3	cervix
38	chr1:113542200-113554400	Weak transcription	Duodenum Mucosa	Duodenum
39	chr1:113542800-113552600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr1:113542800-113559200	Weak transcription	Primary B cells from peripheral blood	blood
41	chr1:113543000-113555000	Weak transcription	Rectal Smooth Muscle	rectum
42	chr1:113543000-113555200	Weak transcription	Fetal Heart	heart
43	chr1:113543000-113555800	Weak transcription	Stomach Mucosa	stomach
44	chr1:113543200-113554000	Weak transcription	Colon Smooth Muscle	Colon
45	chr1:113543200-113574400	Weak transcription	HSMM	muscle
46	chr1:113543400-113550800	Weak transcription	HSMMtube	muscle
47	chr1:113543400-113552200	Weak transcription	Fetal Stomach	stomach
48	chr1:113543400-113552800	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr1:113543400-113555200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr1:113543400-113556600	Weak transcription	Skeletal Muscle Male	skeletal muscle

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