Variant report

Variant	rs1175640
Chromosome Location	chr1:112999000-112999001
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:112996718..113000080-chr1:113160996..113163127,3	K562	blood:

Variant related genes	Relation type
ENSG00000007341	Chromatin interaction
ENSG00000116489	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11102490	1.00[MEX][hapmap]
rs11102493	1.00[MEX][hapmap]
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]
rs1175632	1.00[MEX][hapmap]
rs1175637	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1175639	1.00[ASW][hapmap];0.82[LWK][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes]
rs1175642	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];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]
rs12073750	1.00[MEX][hapmap]
rs12087862	1.00[MEX][hapmap]
rs12094504	1.00[MEX][hapmap]
rs17030350	1.00[MEX][hapmap]
rs17030446	1.00[MEX][hapmap]
rs17030475	1.00[MEX][hapmap]
rs1759691	0.87[AFR][1000 genomes]
rs1777621	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1936047	1.00[MEX][hapmap]
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]
rs6693450	1.00[MEX][hapmap]
rs7542272	1.00[MEX][hapmap]

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:110 , 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	chr1:112981600-112999000	Weak transcription	Brain Substantia Nigra	brain
3	chr1:112988600-113004200	Weak transcription	Fetal Heart	heart
4	chr1:112988800-113008400	Weak transcription	A549	lung
5	chr1:112989400-112999200	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr1:112989600-113004000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr1:112990000-113002800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr1:112990200-112999000	Weak transcription	HepG2	liver
9	chr1:112990400-113001600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
10	chr1:112990600-112999000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr1:112990600-113002000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
12	chr1:112990600-113004600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:112993800-112999000	Weak transcription	Stomach Mucosa	stomach
14	chr1:112994000-113000200	Strong transcription	Fetal Intestine Small	intestine
15	chr1:112994200-113002000	Strong transcription	Fetal Intestine Large	intestine
16	chr1:112994400-113002000	Strong transcription	Fetal Muscle Trunk	muscle
17	chr1:112994600-113008800	Weak transcription	Psoas Muscle	Psoas
18	chr1:112994800-113000600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr1:112994800-113002000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr1:112994800-113008600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr1:112995000-113001600	Strong transcription	Fetal Muscle Leg	muscle
22	chr1:112995200-113001600	Strong transcription	H1 Cell Line	embryonic stem cell
23	chr1:112995200-113002200	Strong transcription	Rectal Mucosa Donor 31	rectum
24	chr1:112995400-112999200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr1:112995400-112999400	Strong transcription	HUVEC	blood vessel
26	chr1:112995400-113000200	Strong transcription	Left Ventricle	heart
27	chr1:112995400-113000400	Strong transcription	Brain Germinal Matrix	brain
28	chr1:112995400-113001200	Strong transcription	Sigmoid Colon	Sigmoid Colon
29	chr1:112995400-113001400	Strong transcription	Rectal Mucosa Donor 29	rectum
30	chr1:112995400-113002000	Strong transcription	HUES6 Cell Line	embryonic stem cell
31	chr1:112995400-113002000	Strong transcription	HUES64 Cell Line	embryonic stem cell
32	chr1:112995400-113002200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr1:112995400-113002400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr1:112995400-113003000	Strong transcription	Duodenum Mucosa	Duodenum
35	chr1:112995600-113000000	Strong transcription	Lung	lung
36	chr1:112995600-113000200	Strong transcription	Fetal Kidney	kidney
37	chr1:112995600-113000400	Strong transcription	Brain Cingulate Gyrus	brain
38	chr1:112995600-113002800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr1:112995800-113001600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
40	chr1:112995800-113007000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr1:112996200-113001400	Strong transcription	Placenta	Placenta
42	chr1:112996400-112999400	Strong transcription	NH-A	brain
43	chr1:112996400-113001000	Strong transcription	HSMM	muscle
44	chr1:112996400-113001400	Strong transcription	Stomach Smooth Muscle	stomach
45	chr1:112996400-113002400	Strong transcription	HMEC	breast
46	chr1:112996600-112999000	Weak transcription	Primary hematopoietic stem cells	blood
47	chr1:112996600-113000200	Strong transcription	Liver	Liver
48	chr1:112996600-113000800	Strong transcription	Fetal Brain Female	brain
49	chr1:112996600-113001200	Strong transcription	HSMMtube	muscle
50	chr1:112996600-113001800	Strong transcription	HUES48 Cell Line	embryonic stem cell

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