Variant report

Variant	rs12075718
Chromosome Location	chr1:180605392-180605393
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:180502536..180503175-chr1:180604941..180605857,2	MCF-7	breast:
2	chr1:180603575..180607305-chr1:180609187..180612669,3	MCF-7	breast:
3	chr1:180502692..180503347-chr1:180604969..180605842,3	MCF-7	breast:
4	chr1:180605138..180605791-chr1:180832492..180833144,3	MCF-7	breast:
5	chr1:180601713..180603426-chr1:180603742..180605623,2	MCF-7	breast:
6	chr1:180603512..180606287-chr1:180609976..180612576,4	K562	blood:
7	chr1:180605186..180605917-chr1:180747764..180748768,4	MCF-7	breast:
8	chr1:180604957..180605855-chr1:180832051..180832817,2	K562	blood:
9	chr1:180604828..180605886-chr1:180831889..180833052,6	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000143324	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10914067	1.00[EUR][1000 genomes]
rs10914089	1.00[YRI][hapmap]
rs11487340	1.00[EUR][1000 genomes]
rs12060106	1.00[EUR][1000 genomes]
rs12063811	1.00[EUR][1000 genomes]
rs12073959	1.00[EUR][1000 genomes]
rs12075181	1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs12079057	1.00[EUR][1000 genomes]
rs12084966	0.87[EUR][1000 genomes]
rs12094045	1.00[YRI][hapmap]
rs12238979	1.00[EUR][1000 genomes]
rs12240182	1.00[EUR][1000 genomes]
rs13374649	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28556586	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6671675	1.00[EUR][1000 genomes]
rs6692545	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6700702	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73036505	1.00[EUR][1000 genomes]
rs73036508	1.00[EUR][1000 genomes]
rs73047686	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73047695	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73049484	1.00[EUR][1000 genomes]
rs73049487	1.00[EUR][1000 genomes]
rs73051218	1.00[EUR][1000 genomes]
rs7553766	1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs7556291	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003359	chr1:180300936-180727561	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	48 gene(s)	inside rSNPs	diseases
2	nsv949311	chr1:180438895-180692815	ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
3	nsv872578	chr1:180510771-180842344	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180601000-180606000	Active TSS	Right Ventricle	heart
2	chr1:180601200-180605800	Active TSS	Breast Myoepithelial Primary Cells	Breast
3	chr1:180602000-180615800	Weak transcription	Lung	lung
4	chr1:180602000-180618800	Weak transcription	Pancreas	Pancrea
5	chr1:180602000-180645200	Weak transcription	Gastric	stomach
6	chr1:180602200-180608200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr1:180602200-180608200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr1:180602400-180605600	Active TSS	Fetal Brain Female	brain
9	chr1:180602400-180605800	Enhancers	Primary T helper cells fromperipheralblood	blood
10	chr1:180602400-180611000	Weak transcription	Stomach Mucosa	stomach
11	chr1:180602400-180612400	Weak transcription	Colon Smooth Muscle	Colon
12	chr1:180602400-180612600	Weak transcription	Rectal Smooth Muscle	rectum
13	chr1:180603000-180614800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr1:180603200-180606000	Weak transcription	Liver	Liver
15	chr1:180603200-180606800	Weak transcription	NH-A	brain
16	chr1:180603200-180612000	Weak transcription	Primary hematopoietic stem cells	blood
17	chr1:180603200-180614400	Weak transcription	Primary B cells from cord blood	blood
18	chr1:180603200-180615200	Weak transcription	HSMM	muscle
19	chr1:180603200-180615800	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr1:180603200-180616400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr1:180603200-180622400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr1:180603400-180605400	Active TSS	Right Atrium	heart
23	chr1:180603400-180605600	Weak transcription	Brain Anterior Caudate	brain
24	chr1:180603400-180605600	Weak transcription	Brain Hippocampus Middle	brain
25	chr1:180603400-180605600	Weak transcription	Left Ventricle	heart
26	chr1:180603400-180605800	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr1:180603400-180611200	Weak transcription	Psoas Muscle	Psoas
28	chr1:180603400-180613000	Weak transcription	Ovary	ovary
29	chr1:180603400-180614800	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr1:180603400-180615400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr1:180603400-180615600	Weak transcription	HUVEC	blood vessel
32	chr1:180603400-180617000	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr1:180603400-180619400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr1:180603600-180605600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr1:180603600-180605600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr1:180603600-180605600	Weak transcription	Duodenum Mucosa	Duodenum
37	chr1:180603600-180605800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr1:180603600-180611800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr1:180603600-180612400	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr1:180603600-180612800	Weak transcription	Aorta	Aorta
41	chr1:180603600-180626400	Weak transcription	Fetal Lung	lung
42	chr1:180603800-180607400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr1:180603800-180608800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr1:180603800-180609200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr1:180603800-180609600	Weak transcription	A549	lung
46	chr1:180603800-180612800	Weak transcription	Primary T cells from cord blood	blood
47	chr1:180603800-180613400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr1:180603800-180614600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr1:180604000-180613200	Weak transcription	Brain Germinal Matrix	brain
50	chr1:180604000-180623200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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