Variant report

Variant	rs4274109
Chromosome Location	chr1:120482907-120482908
allele	A/C
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	POLR2A	chr1:120482872-120483036	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:120480674..120483081-chr1:145098868..145100829,2	MCF-7	breast:
2	chr1:120450368..120452473-chr1:120481049..120483944,2	K562	blood:

Variant related genes	Relation type
NOTCH2	TF binding region

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs17024243	1.00[EUR][1000 genomes]
rs17024274	1.00[EUR][1000 genomes]
rs2453043	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2453045	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2453054	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2453057	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2453060	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2493393	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2493395	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2493397	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2493399	1.00[EUR][1000 genomes]
rs2493409	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2641341	1.00[EUR][1000 genomes]
rs2691751	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2793828	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2793924	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34996202	1.00[EUR][1000 genomes]
rs59055697	1.00[EUR][1000 genomes]
rs60594933	1.00[EUR][1000 genomes]
rs6673881	1.00[EUR][1000 genomes]
rs6689706	1.00[EUR][1000 genomes]
rs6690032	1.00[EUR][1000 genomes]
rs6697236	1.00[EUR][1000 genomes]
rs74115097	1.00[EUR][1000 genomes]
rs74115360	1.00[EUR][1000 genomes]
rs74115365	1.00[EUR][1000 genomes]
rs7536072	1.00[EUR][1000 genomes]
rs7537153	1.00[EUR][1000 genomes]
rs7537385	1.00[EUR][1000 genomes]
rs7540526	1.00[EUR][1000 genomes]
rs835566	1.00[EUR][1000 genomes]
rs835567	1.00[EUR][1000 genomes]
rs835577	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428201	chr1:120267313-120697156	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	esv2757750	chr1:120267313-121226013	Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	esv2758965	chr1:120267313-121226013	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	esv1816057	chr1:120469050-120697156	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	esv1818054	chr1:120469050-120697156	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
6	esv1844863	chr1:120469050-120697156	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
7	esv1850218	chr1:120469050-120697156	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS 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	10 gene(s)	inside rSNPs	diseases
8	nsv427730	chr1:120469050-120697156	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 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	chr1:120452000-120485600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr1:120453000-120483600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr1:120455800-120486800	Strong transcription	Liver	Liver
4	chr1:120456200-120488000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr1:120468400-120495800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr1:120468400-120506200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr1:120468400-120507400	Weak transcription	Right Ventricle	heart
8	chr1:120468600-120496000	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr1:120468600-120532800	Weak transcription	Stomach Mucosa	stomach
10	chr1:120469600-120485600	Strong transcription	Primary neutrophils fromperipheralblood	blood
11	chr1:120474800-120483800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr1:120474800-120484400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr1:120474800-120484600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr1:120475200-120484800	Strong transcription	NHDF-Ad	bronchial
15	chr1:120475200-120484800	Strong transcription	Osteobl	bone
16	chr1:120475400-120483400	Strong transcription	Placenta Amnion	Placenta Amnion
17	chr1:120475400-120484000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr1:120475400-120484400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr1:120475400-120484400	Strong transcription	NH-A	brain
20	chr1:120475400-120484800	Strong transcription	HSMM	muscle
21	chr1:120475600-120483000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr1:120475600-120483200	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr1:120475600-120483400	Strong transcription	Stomach Smooth Muscle	stomach
24	chr1:120475600-120484400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr1:120475600-120484400	Strong transcription	Rectal Smooth Muscle	rectum
26	chr1:120475600-120484800	Strong transcription	Skeletal Muscle Female	skeletal muscle
27	chr1:120475600-120485600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr1:120475800-120484400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr1:120475800-120484400	Strong transcription	Rectal Mucosa Donor 29	rectum
30	chr1:120475800-120484400	Strong transcription	Rectal Mucosa Donor 31	rectum
31	chr1:120475800-120484600	Strong transcription	HSMMtube	muscle
32	chr1:120475800-120484800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr1:120476000-120484400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr1:120476000-120484400	Strong transcription	Placenta	Placenta
35	chr1:120476000-120484600	Strong transcription	HMEC	breast
36	chr1:120476000-120484800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr1:120476400-120483600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
38	chr1:120476400-120484400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr1:120476400-120484400	Strong transcription	Fetal Intestine Large	intestine
40	chr1:120476400-120484400	Strong transcription	Fetal Stomach	stomach
41	chr1:120476400-120484400	Strong transcription	Lung	lung
42	chr1:120476400-120484400	Strong transcription	Sigmoid Colon	Sigmoid Colon
43	chr1:120476400-120484400	Strong transcription	Spleen	Spleen
44	chr1:120476400-120484600	Strong transcription	Primary T cells fromperipheralblood	blood
45	chr1:120476400-120507400	Weak transcription	Brain Angular Gyrus	brain
46	chr1:120476600-120484400	Strong transcription	Adipose Nuclei	Adipose
47	chr1:120476600-120484400	Strong transcription	Fetal Muscle Trunk	muscle
48	chr1:120476600-120484600	Strong transcription	Duodenum Smooth Muscle	Duodenum
49	chr1:120476800-120484400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr1:120476800-120484400	Strong transcription	Fetal Muscle Leg	muscle

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