Variant report

Variant	rs1927114
Chromosome Location	chr9:72748429-72748430
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:72748007..72750453-chr9:72808216..72811141,2	MCF-7	breast:
2	chr9:72738878..72740762-chr9:72748344..72751164,2	MCF-7	breast:

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10114223	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10511981	0.93[EUR][1000 genomes]
rs10735584	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10868800	1.00[CEU][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11142348	0.88[CEU][hapmap];0.82[EUR][1000 genomes]
rs11142364	1.00[CEU][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11142372	1.00[CEU][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes]
rs11142377	0.81[EUR][1000 genomes]
rs11521805	1.00[CEU][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11795149	0.86[EUR][1000 genomes]
rs1180080	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1180084	1.00[CEU][hapmap];0.82[YRI][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1180089	1.00[CEU][hapmap];0.85[YRI][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1180097	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1180100	1.00[CEU][hapmap];0.95[YRI][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1180110	0.95[YRI][hapmap]
rs1180113	1.00[CEU][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1180119	1.00[CEU][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1180134	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs1183311	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17052678	1.00[CEU][hapmap];0.95[YRI][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1888155	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1927094	1.00[CEU][hapmap];0.86[YRI][hapmap];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1927097	0.81[EUR][1000 genomes]
rs1927108	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1927109	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1927112	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1927123	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1927138	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1927140	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1927141	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1927145	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1927146	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1927148	0.85[YRI][hapmap]
rs1998972	0.93[EUR][1000 genomes]
rs2148854	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2148855	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2148860	0.90[EUR][1000 genomes]
rs2182733	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2209781	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2225128	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2309601	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2309637	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2309641	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2309645	1.00[CEU][hapmap];0.81[YRI][hapmap];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2309646	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2871297	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4744587	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4744980	0.93[EUR][1000 genomes]
rs4744985	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs66756859	0.82[EUR][1000 genomes]
rs7020575	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7042675	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72712293	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72712300	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7341691	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7848955	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7857325	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7865289	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9410662	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs943532	0.81[EUR][1000 genomes]
rs943533	0.81[EUR][1000 genomes]
rs943535	1.00[CEU][hapmap];0.95[YRI][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs943538	0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049457	chr9:72539144-72765913	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1047862	chr9:72746875-73138287	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:72722000-72758400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr9:72725800-72764200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr9:72726200-72749200	Weak transcription	Fetal Muscle Trunk	muscle
4	chr9:72726800-72785200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr9:72727000-72776200	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr9:72728200-72752800	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr9:72728200-72758400	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr9:72731200-72768400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr9:72736200-72748800	Weak transcription	Fetal Brain Female	brain
10	chr9:72736200-72761200	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr9:72738200-72750400	Weak transcription	Fetal Intestine Small	intestine
12	chr9:72739000-72749000	Weak transcription	Gastric	stomach
13	chr9:72740400-72750000	Weak transcription	NH-A	brain
14	chr9:72740600-72766400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr9:72741000-72758600	Weak transcription	Colonic Mucosa	Colon
16	chr9:72741400-72765600	Weak transcription	Esophagus	oesophagus
17	chr9:72741600-72749400	Weak transcription	Fetal Stomach	stomach
18	chr9:72741600-72751600	Weak transcription	NHLF	lung
19	chr9:72741600-72755000	Weak transcription	Left Ventricle	heart
20	chr9:72741600-72757400	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr9:72741600-72775400	Weak transcription	Adipose Nuclei	Adipose
22	chr9:72741600-72789400	Weak transcription	Spleen	Spleen
23	chr9:72742800-72748800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr9:72743000-72754800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr9:72745600-72749600	Weak transcription	Lung	lung
26	chr9:72746200-72749200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr9:72746200-72755000	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr9:72746600-72750600	Weak transcription	HMEC	breast
29	chr9:72746600-72762600	Weak transcription	Psoas Muscle	Psoas
30	chr9:72746800-72750200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr9:72746800-72750200	Weak transcription	NHEK	skin
32	chr9:72746800-72750400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr9:72747400-72752600	Enhancers	HSMM	muscle
34	chr9:72747800-72753400	Enhancers	NHDF-Ad	bronchial
35	chr9:72748000-72748600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr9:72748000-72749600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr9:72748000-72749800	Genic enhancers	Stomach Smooth Muscle	stomach
38	chr9:72748000-72750200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
39	chr9:72748000-72750400	Enhancers	Fetal Muscle Leg	muscle
40	chr9:72748000-72751400	Enhancers	Osteobl	bone
41	chr9:72748000-72752800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr9:72748200-72748600	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr9:72748200-72748800	Enhancers	Aorta	Aorta
44	chr9:72748200-72749200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr9:72748200-72749200	Genic enhancers	Colon Smooth Muscle	Colon
46	chr9:72748200-72749200	Genic enhancers	Ovary	ovary
47	chr9:72748200-72749400	Enhancers	Rectal Smooth Muscle	rectum
48	chr9:72748200-72750200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr9:72748200-72751600	Genic enhancers	HSMMtube	muscle
50	chr9:72748200-72752000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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