Variant report

Variant	rs1759691
Chromosome Location	chr1:112991881-112991882
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:112990098..112992182-chr1:113002230..113004627,2	MCF-7	breast:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1175624	0.87[AFR][1000 genomes]
rs1175627	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1175628	0.87[AFR][1000 genomes]
rs1175637	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs1175639	1.00[ASW][hapmap];0.92[LWK][hapmap];0.91[MKK][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1175640	1.00[ASW][hapmap];0.89[LWK][hapmap];0.84[MKK][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs1175642	1.00[ASW][hapmap];0.89[LWK][hapmap];0.91[MKK][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs1175643	0.87[AFR][1000 genomes]
rs1175644	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1175647	0.82[AFR][1000 genomes]
rs1777621	0.87[AFR][1000 genomes]
rs2483347	0.87[AFR][1000 genomes]
rs2780274	0.92[AFR][1000 genomes]
rs2780276	1.00[YRI][hapmap];0.87[AFR][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	esv13370	chr1:112693290-113246263	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	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
3	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
4	nsv831081	chr1:112934920-113122640	Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	esv1850997	chr1:112944472-112993754	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:112957600-112997600	Weak transcription	Brain Anterior Caudate	brain
2	chr1:112959800-112992800	Weak transcription	Fetal Muscle Trunk	muscle
3	chr1:112960000-112995200	Weak transcription	Stomach Smooth Muscle	stomach
4	chr1:112960000-112996800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr1:112961200-112995600	Weak transcription	Brain Cingulate Gyrus	brain
6	chr1:112965800-112996200	Weak transcription	Placenta	Placenta
7	chr1:112968600-112994800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr1:112968600-112995400	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr1:112968600-112995600	Weak transcription	Colonic Mucosa	Colon
10	chr1:112974000-112997000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr1:112976200-112994200	Weak transcription	Psoas Muscle	Psoas
12	chr1:112979600-112998600	Weak transcription	Right Ventricle	heart
13	chr1:112979600-112998600	Weak transcription	Spleen	Spleen
14	chr1:112979800-112992000	Weak transcription	Brain Angular Gyrus	brain
15	chr1:112979800-112992200	Weak transcription	Brain Germinal Matrix	brain
16	chr1:112981000-112997200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr1:112981400-113006000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr1:112981600-112999000	Weak transcription	Brain Substantia Nigra	brain
19	chr1:112981800-112996600	Weak transcription	Liver	Liver
20	chr1:112982000-112996800	Weak transcription	Rectal Smooth Muscle	rectum
21	chr1:112982000-112998800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr1:112982600-112998600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr1:112982800-112998800	Weak transcription	Colon Smooth Muscle	Colon
24	chr1:112984400-112995600	Weak transcription	Fetal Kidney	kidney
25	chr1:112986400-112998600	Weak transcription	Aorta	Aorta
26	chr1:112987800-112996800	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr1:112987800-112998600	Weak transcription	Gastric	stomach
28	chr1:112988000-112993600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr1:112988000-112994000	Weak transcription	Fetal Intestine Small	intestine
30	chr1:112988600-112992200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr1:112988600-112995400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr1:112988600-112998200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr1:112988600-113004200	Weak transcription	Fetal Heart	heart
34	chr1:112988800-112998200	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr1:112988800-113008400	Weak transcription	A549	lung
36	chr1:112989200-112993600	Weak transcription	NHDF-Ad	bronchial
37	chr1:112989400-112992200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr1:112989400-112995200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr1:112989400-112995400	Weak transcription	Lung	lung
40	chr1:112989400-112998200	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr1:112989400-112998800	Weak transcription	GM12878-XiMat	blood
42	chr1:112989400-112999200	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr1:112989600-112992000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr1:112989600-112992400	Weak transcription	NHLF	lung
45	chr1:112989600-112995400	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr1:112989600-112995600	Weak transcription	Small Intestine	intestine
47	chr1:112989600-113004000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
48	chr1:112990000-112993800	Strong transcription	Rectal Mucosa Donor 31	rectum
49	chr1:112990000-112996400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr1:112990000-113002800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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