Variant report

Variant	rs561340943
Chromosome Location	chr1:161353463-161353464
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	FOS	chr1:161353362-161353930	MCF10A-Er-Src	breast:	n/a	chr1:161353868-161353879
2	STAT3	chr1:161351887-161353993	MCF10A-Er-Src	breast:	n/a	chr1:161352689-161352701
3	FOS	chr1:161353350-161353914	MCF10A-Er-Src	breast:	n/a	chr1:161353868-161353879
4	STAT3	chr1:161351940-161353938	MCF10A-Er-Src	breast:	n/a	chr1:161352689-161352701
5	FOS	chr1:161353224-161354022	MCF10A-Er-Src	breast:	n/a	chr1:161353868-161353879
6	MYC	chr1:161353288-161353830	MCF10A-Er-Src	breast:	n/a	n/a
7	STAT3	chr1:161351937-161353985	MCF10A-Er-Src	breast:	n/a	chr1:161352689-161352701
8	POLR2A	chr1:161351637-161353936	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:161178544..161181092-chr1:161350724..161353632,2	K562	blood:
2	chr1:161140294..161141982-chr1:161353302..161356192,2	K562	blood:
3	chr1:161352053..161353728-chr1:161407304..161409972,2	K562	blood:
4	chr1:161176175..161178205-chr1:161352097..161354818,2	K562	blood:
5	chr1:161352351..161353889-chr1:161357859..161359793,2	K562	blood:
6	chr1:161352260..161354753-chr1:161367912..161370247,2	K562	blood:
7	chr1:161351090..161356215-chr1:161358922..161361757,5	MCF-7	breast:
8	chr1:161281992..161284630-chr1:161351786..161353873,2	K562	blood:
9	chr1:161350529..161353664-chr1:161354181..161356756,3	K562	blood:

Variant related genes	Relation type
RRM2P2	TF binding region
ENSG00000143252	Chromatin interaction
ENSG00000158864	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432986	chr1:161221133-161673682	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers 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	67 gene(s)	inside rSNPs	diseases
2	nsv1010776	chr1:161282384-161409218	Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
3	nsv432998	chr1:161335902-161673682	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
4	nsv872493	chr1:161339060-161413794	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
5	nsv433009	chr1:161343927-161639328	Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
6	nsv1005812	chr1:161343951-161548101	Weak transcription Bivalent Enhancer Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
7	nsv535182	chr1:161343951-161548101	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
8	esv2756866	chr1:161344255-161681552	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
9	esv2758972	chr1:161344255-161681552	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
10	nsv998957	chr1:161353351-161398414	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161328400-161359000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:161328600-161359000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:161335000-161356000	Weak transcription	K562	blood
4	chr1:161337800-161356200	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr1:161338000-161356000	Weak transcription	GM12878-XiMat	blood
6	chr1:161349200-161358600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr1:161351600-161353600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr1:161351600-161353800	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr1:161351800-161358800	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr1:161352400-161355600	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr1:161352400-161358600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr1:161352400-161358800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr1:161352600-161359200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr1:161352600-161359200	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr1:161352800-161353800	Enhancers	Muscle Satellite Cultured Cells	--
16	chr1:161352800-161353800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr1:161352800-161353800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr1:161352800-161353800	Enhancers	Hela-S3	cervix
19	chr1:161352800-161353800	Enhancers	HMEC	breast
20	chr1:161352800-161356000	Weak transcription	HepG2	liver
21	chr1:161352800-161359200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr1:161353000-161353800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr1:161353000-161354000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr1:161353000-161359200	Weak transcription	HUVEC	blood vessel
25	chr1:161353000-161359200	Weak transcription	NHLF	lung
26	chr1:161353200-161354000	Enhancers	NHEK	skin
27	chr1:161353400-161354600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr1:161353400-161356200	Weak transcription	A549	lung
29	chr1:161353400-161359000	Weak transcription	Adipose Nuclei	Adipose
30	chr1:161353400-161359200	Weak transcription	Osteobl	bone

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