Variant report

Variant	rs1175637
Chromosome Location	chr1:113003365-113003366
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:113001774..113003601-chr1:113246520..113248400,2	MCF-7	breast:
2	chr1:112990098..112992182-chr1:113002230..113004627,2	MCF-7	breast:
3	chr1:113002255..113010411-chr1:113160144..113164475,13	MCF-7	breast:
4	chr1:112935548..112944315-chr1:113002393..113010397,28	MCF-7	breast:
5	chr1:113003059..113010084-chr1:113159503..113164005,9	MCF-7	breast:
6	chr1:112999983..113002728-chr1:113002893..113005309,2	K562	blood:

Variant related genes	Relation type
ENSG00000007341	Chromatin interaction
ENSG00000143079	Chromatin interaction
ENSG00000116489	Chromatin interaction
ENSG00000155366	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1175624	0.96[AFR][1000 genomes]
rs1175627	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs1175628	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1175639	1.00[YRI][hapmap];0.80[AFR][1000 genomes]
rs1175640	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1175642	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1175643	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1175644	0.87[AFR][1000 genomes]
rs1759691	0.87[AFR][1000 genomes]
rs1777621	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2483347	1.00[AFR][1000 genomes]
rs2780274	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2780276	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2798246	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:112981400-113006000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr1:112988600-113004200	Weak transcription	Fetal Heart	heart
3	chr1:112988800-113008400	Weak transcription	A549	lung
4	chr1:112989600-113004000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr1:112990600-113004600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:112994600-113008800	Weak transcription	Psoas Muscle	Psoas
7	chr1:112994800-113008600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr1:112995800-113007000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr1:112999400-113008000	Weak transcription	Right Atrium	heart
10	chr1:112999600-113005200	Weak transcription	GM12878-XiMat	blood
11	chr1:112999800-113004400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr1:112999800-113008200	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr1:113000000-113003400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr1:113000000-113004000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr1:113000000-113005000	Weak transcription	Brain Anterior Caudate	brain
16	chr1:113000000-113005600	Weak transcription	Esophagus	oesophagus
17	chr1:113000000-113006400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr1:113000000-113007800	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr1:113000000-113008400	Weak transcription	Pancreas	Pancrea
20	chr1:113000000-113008400	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr1:113000000-113008400	Weak transcription	Dnd41	blood
22	chr1:113000200-113003400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr1:113000200-113004000	Weak transcription	Gastric	stomach
24	chr1:113000200-113004200	Weak transcription	Fetal Intestine Small	intestine
25	chr1:113000200-113005000	Weak transcription	Liver	Liver
26	chr1:113000200-113005600	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr1:113000200-113007200	Weak transcription	Spleen	Spleen
28	chr1:113000200-113008200	Weak transcription	Colon Smooth Muscle	Colon
29	chr1:113000200-113008600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr1:113000200-113009600	Weak transcription	Small Intestine	intestine
31	chr1:113000400-113007800	Weak transcription	Fetal Brain Male	brain
32	chr1:113000400-113008200	Weak transcription	Brain Germinal Matrix	brain
33	chr1:113000600-113008400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr1:113000800-113004000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr1:113000800-113008200	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr1:113000800-113008400	Weak transcription	Right Ventricle	heart
37	chr1:113001000-113003400	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr1:113001000-113007800	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr1:113001200-113008600	Weak transcription	Primary hematopoietic stem cells	blood
40	chr1:113001400-113005200	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr1:113001400-113008000	Weak transcription	Stomach Smooth Muscle	stomach
42	chr1:113001400-113008000	Weak transcription	Hela-S3	cervix
43	chr1:113001600-113003800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr1:113001600-113003800	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr1:113001600-113004000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr1:113001600-113004000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr1:113001600-113005600	Enhancers	Fetal Lung	lung
48	chr1:113001600-113006400	Weak transcription	Colonic Mucosa	Colon
49	chr1:113001600-113007000	Weak transcription	Lung	lung
50	chr1:113001600-113007400	Weak transcription	Brain Substantia Nigra	brain

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