Variant report

Variant	rs562446154
Chromosome Location	chr1:113574103-113574104
allele	-/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	JUND	chr1:113573916-113574286	GM12878	blood:	n/a	n/a
2	EP300	chr1:113573915-113574268	GM12878	blood:	n/a	chr1:113574077-113574084 chr1:113574037-113574046
3	ZNF384	chr1:113573899-113574276	GM12878	blood:	n/a	n/a
4	TCF12	chr1:113573878-113574172	GM12878	blood:	n/a	n/a
5	POU2F2	chr1:113573966-113574135	GM12878	blood:	n/a	n/a
6	NFATC1	chr1:113573714-113574425	GM12878	blood:	n/a	n/a
7	BCL11A	chr1:113573947-113574172	GM12878	blood:	n/a	n/a
8	BCL11A	chr1:113573841-113574245	GM12878	blood:	n/a	n/a
9	STAT5A	chr1:113573776-113574250	GM12878	blood:	n/a	chr1:113573850-113573858
10	ATF2	chr1:113573830-113574299	GM12878	blood:	n/a	n/a
11	CUX1	chr1:113573884-113574312	GM12878	blood:	n/a	n/a
12	PML	chr1:113573936-113574230	GM12878	blood:	n/a	n/a
13	PML	chr1:113573727-113574368	GM12878	blood:	n/a	n/a
14	STAT5A	chr1:113573814-113574305	GM12878	blood:	n/a	chr1:113573850-113573858
15	TCF12	chr1:113573870-113574217	GM12878	blood:	n/a	n/a
16	SPI1	chr1:113573777-113574184	GM12891	blood:	n/a	n/a
17	CEBPB	chr1:113573763-113574379	GM12878	blood:	n/a	n/a
18	BATF	chr1:113573777-113574227	GM12878	blood:	n/a	n/a
19	POLR2A	chr1:113573948-113574209	MCF10A-Er-Src	breast:	n/a	n/a
20	EP300	chr1:113573870-113574282	GM12878	blood:	n/a	chr1:113574077-113574084 chr1:113574037-113574046
21	BCL3	chr1:113573837-113574287	GM12878	blood:	n/a	n/a
22	POLR2A	chr1:113573816-113574237	GM12891	blood:	n/a	n/a
23	SP1	chr1:113573868-113574242	GM12878	blood:	n/a	n/a
24	STAT3	chr1:113573958-113574235	GM12878	blood:	n/a	n/a
25	EP300	chr1:113573981-113574261	GM12878	blood:	n/a	chr1:113574077-113574084 chr1:113574037-113574046
26	IKZF1	chr1:113573689-113574230	GM12878	blood:	n/a	n/a
27	TCF3	chr1:113573777-113574258	GM12878	blood:	n/a	n/a
28	EP300	chr1:113573901-113574320	GM12878	blood:	n/a	chr1:113574077-113574084 chr1:113574037-113574046
29	NFATC1	chr1:113573824-113574352	GM12878	blood:	n/a	n/a
30	SPI1	chr1:113573860-113574159	GM12891	blood:	n/a	n/a
31	FOXM1	chr1:113573777-113574393	GM12878	blood:	n/a	n/a
32	NFYB	chr1:113573813-113574352	GM12878	blood:	n/a	n/a
33	MEF2A	chr1:113573820-113574377	GM12878	blood:	n/a	n/a
34	BATF	chr1:113573902-113574220	GM12878	blood:	n/a	n/a
35	MAZ	chr1:113573823-113574200	GM12878	blood:	n/a	n/a
36	IRF4	chr1:113573813-113574193	GM12878	blood:	n/a	n/a
37	NFIC	chr1:113573663-113574451	GM12878	blood:	n/a	n/a
38	JUND	chr1:113573535-113574432	GM12878	blood:	n/a	n/a
39	ZNF143	chr1:113573972-113574154	GM12878	blood:	n/a	n/a
40	BCLAF1	chr1:113573824-113574234	GM12878	blood:	n/a	n/a
41	POLR2A	chr1:113573722-113574334	GM12892	blood:	n/a	n/a
42	EBF1	chr1:113573953-113574252	GM12878	blood:	n/a	n/a
43	NFIC	chr1:113573852-113574363	GM12878	blood:	n/a	n/a
44	SRF	chr1:113574000-113574122	GM12878	blood:	n/a	n/a
45	RUNX3	chr1:113573788-113574268	GM12878	blood:	n/a	n/a
46	RUNX3	chr1:113573715-113574376	GM12878	blood:	n/a	n/a
47	IRF4	chr1:113573752-113574389	GM12878	blood:	n/a	n/a
48	MTA3	chr1:113573823-113574306	GM12878	blood:	n/a	n/a
49	MTA3	chr1:113573694-113574298	GM12878	blood:	n/a	n/a
50	TCF3	chr1:113573906-113574200	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:113570114..113572755-chr1:113573147..113575592,2	K562	blood:

Variant related genes	Relation type
ENSG00000236066	TF binding region

Extended variants
information (count: 14 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:14 , 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	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
10	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
11	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
12	nsv946146	chr1:113567302-113640814	Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
13	nsv427719	chr1:113570229-114078388	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
14	esv990846	chr1:113573220-113576139	Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:113543200-113574400	Weak transcription	HSMM	muscle
2	chr1:113555600-113584200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr1:113564600-113577600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr1:113564600-113577600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr1:113564800-113579400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr1:113564800-113583000	Weak transcription	Stomach Mucosa	stomach
7	chr1:113570200-113575000	Enhancers	Liver	Liver
8	chr1:113570400-113579400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr1:113570600-113575200	Enhancers	HepG2	liver
10	chr1:113571000-113574400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr1:113571200-113579600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr1:113571400-113579200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr1:113571600-113579400	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr1:113571600-113584000	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr1:113572000-113579400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr1:113572400-113574200	Enhancers	Fetal Heart	heart
17	chr1:113572600-113574800	Enhancers	GM12878-XiMat	blood
18	chr1:113572600-113579200	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr1:113572600-113579200	Weak transcription	Thymus	Thymus
20	chr1:113572600-113584600	Weak transcription	Colon Smooth Muscle	Colon
21	chr1:113573200-113574400	Enhancers	HUVEC	blood vessel
22	chr1:113573800-113577600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr1:113573800-113584200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr1:113574000-113574200	Enhancers	Duodenum Mucosa	Duodenum
25	chr1:113574000-113577800	Weak transcription	Left Ventricle	heart
26	chr1:113574000-113582200	Weak transcription	Fetal Intestine Small	intestine

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