Variant report

Variant	rs1927122
Chromosome Location	chr9:72773625-72773626
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr9:72773625-72773658	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
MAMDC2-AS1	TF binding region

Extended variants
information (count: 149 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:148)

rs_ID	r²[population]
rs10114223	0.81[AFR][1000 genomes]
rs10116027	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10116549	0.94[AFR][1000 genomes]
rs10125117	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10125454	0.90[AFR][1000 genomes]
rs10126027	0.94[AFR][1000 genomes]
rs1012992	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1012993	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10732697	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10746819	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10780851	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10780866	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10780869	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10780870	0.89[AFR][1000 genomes]
rs10780871	0.90[AFR][1000 genomes]
rs10780898	0.81[ASN][1000 genomes]
rs10868741	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10868808	1.00[CEU][hapmap];0.92[YRI][hapmap]
rs1112937	1.00[YRI][hapmap]
rs11141917	0.87[AFR][1000 genomes]
rs11142242	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11142348	0.95[YRI][hapmap]
rs11142354	0.83[ASN][1000 genomes]
rs11142356	0.83[ASN][1000 genomes]
rs11142363	0.95[YRI][hapmap];0.81[ASN][1000 genomes]
rs11142367	1.00[CEU][hapmap];1.00[YRI][hapmap];0.81[ASN][1000 genomes]
rs11142368	1.00[CEU][hapmap];1.00[YRI][hapmap];0.81[ASN][1000 genomes]
rs11142370	1.00[CEU][hapmap];0.95[YRI][hapmap];0.80[ASN][1000 genomes]
rs11142371	0.81[ASN][1000 genomes]
rs11142373	1.00[CEU][hapmap];0.95[YRI][hapmap]
rs1180078	0.86[ASN][1000 genomes]
rs1180079	0.86[ASN][1000 genomes]
rs1180082	1.00[YRI][hapmap]
rs1180084	0.83[YRI][hapmap]
rs1180086	1.00[YRI][hapmap]
rs1180087	0.86[ASN][1000 genomes]
rs1180091	0.96[YRI][hapmap]
rs1180094	1.00[YRI][hapmap]
rs1180098	0.85[ASN][1000 genomes]
rs1180099	0.95[YRI][hapmap]
rs1180101	1.00[CEU][hapmap];0.95[YRI][hapmap];0.85[ASN][1000 genomes]
rs1180102	1.00[CEU][hapmap];0.85[ASN][1000 genomes]
rs1180103	0.85[ASN][1000 genomes]
rs1180104	1.00[CEU][hapmap];1.00[YRI][hapmap];0.85[ASN][1000 genomes]
rs1180105	1.00[CEU][hapmap];0.85[ASN][1000 genomes]
rs1180106	0.85[ASN][1000 genomes]
rs1180107	1.00[CEU][hapmap];0.96[YRI][hapmap];0.85[ASN][1000 genomes]
rs1180112	1.00[CEU][hapmap];1.00[YRI][hapmap];0.83[ASN][1000 genomes]
rs1180114	0.83[ASN][1000 genomes]
rs1180115	0.83[ASN][1000 genomes]
rs1180117	1.00[CEU][hapmap];0.95[YRI][hapmap];0.83[ASN][1000 genomes]
rs1180118	1.00[CEU][hapmap];1.00[YRI][hapmap];0.83[ASN][1000 genomes]
rs1180120	0.83[ASN][1000 genomes]
rs1180122	1.00[CEU][hapmap];0.96[YRI][hapmap];0.83[ASN][1000 genomes]
rs1180124	1.00[CEU][hapmap];0.95[YRI][hapmap];0.83[ASN][1000 genomes]
rs1180125	0.82[ASN][1000 genomes]
rs1180126	1.00[CEU][hapmap];1.00[YRI][hapmap];0.83[ASN][1000 genomes]
rs1180127	1.00[YRI][hapmap]
rs1180128	0.82[ASN][1000 genomes]
rs1180132	0.82[ASN][1000 genomes]
rs1180133	1.00[CEU][hapmap];0.96[YRI][hapmap];0.83[ASN][1000 genomes]
rs11998951	1.00[CEU][hapmap];1.00[YRI][hapmap];0.81[ASN][1000 genomes]
rs12006212	1.00[CEU][hapmap];0.95[YRI][hapmap];0.81[ASN][1000 genomes]
rs12156606	0.93[CEU][hapmap];1.00[YRI][hapmap]
rs12236327	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12377677	0.92[AFR][1000 genomes]
rs12380844	1.00[CEU][hapmap];1.00[YRI][hapmap];0.80[ASN][1000 genomes]
rs1887452	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1927091	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1927092	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1927093	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1927098	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1927118	0.94[AFR][1000 genomes]
rs1927120	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1927121	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1927124	0.91[AFR][1000 genomes]
rs1927125	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1927126	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1927127	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1927130	0.90[AFR][1000 genomes]
rs1927132	0.90[AFR][1000 genomes]
rs1927133	0.90[AFR][1000 genomes]
rs1927134	0.90[AFR][1000 genomes]
rs1927135	0.90[AFR][1000 genomes]
rs1927136	0.90[AFR][1000 genomes]
rs1927140	0.81[AFR][1000 genomes]
rs1927146	0.83[YRI][hapmap]
rs1986067	0.90[AFR][1000 genomes]
rs2026137	1.00[CEU][hapmap];1.00[YRI][hapmap];0.81[ASN][1000 genomes]
rs2148863	0.87[AFR][1000 genomes]
rs2148866	0.94[AFR][1000 genomes]
rs2148867	0.91[AFR][1000 genomes]
rs2148868	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2182731	0.88[ASN][1000 genomes]
rs2182735	1.00[YRI][hapmap]
rs2182740	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2182741	0.91[AFR][1000 genomes]
rs2183362	0.82[ASN][1000 genomes]
rs2309632	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2309634	0.90[AFR][1000 genomes]
rs2309636	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2309644	1.00[YRI][hapmap]
rs2768644	0.86[ASN][1000 genomes]
rs2768645	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2768649	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2773362	0.86[ASN][1000 genomes]
rs2871291	0.94[ASN][1000 genomes]
rs2871293	1.00[CEU][hapmap];0.96[YRI][hapmap]
rs2871296	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4322072	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4378025	0.85[ASN][1000 genomes]
rs4449855	1.00[CEU][hapmap];0.95[YRI][hapmap];0.83[ASN][1000 genomes]
rs4531114	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4744591	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4744984	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4744986	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4744994	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4744995	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4744997	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4744998	0.80[EUR][1000 genomes]
rs56345723	0.90[ASN][1000 genomes]
rs58720670	0.82[ASN][1000 genomes]
rs58881692	0.81[ASN][1000 genomes]
rs6560016	0.91[AFR][1000 genomes]
rs6560018	0.90[AFR][1000 genomes]
rs6560060	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs66658020	0.81[ASN][1000 genomes]
rs7024117	0.91[AFR][1000 genomes]
rs7034322	0.93[CEU][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7041843	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7047789	1.00[YRI][hapmap]
rs73454795	0.82[ASN][1000 genomes]
rs7852005	0.81[ASN][1000 genomes]
rs7853298	0.87[AFR][1000 genomes]
rs7854735	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7856528	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7857214	0.87[ASN][1000 genomes]
rs7857292	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7858389	0.81[ASN][1000 genomes]
rs7858988	1.00[CEU][hapmap];0.95[YRI][hapmap];0.82[ASN][1000 genomes]
rs7860729	0.87[AFR][1000 genomes]
rs7867727	0.81[ASN][1000 genomes]
rs7868564	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7875514	0.86[ASN][1000 genomes]
rs8181178	0.82[ASN][1000 genomes]
rs8181179	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs943536	1.00[CEU][hapmap];0.95[YRI][hapmap];0.83[ASN][1000 genomes]
rs943539	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:72726800-72785200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr9:72727000-72776200	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr9:72741600-72775400	Weak transcription	Adipose Nuclei	Adipose
4	chr9:72741600-72789400	Weak transcription	Spleen	Spleen
5	chr9:72752000-72779600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr9:72752400-72775200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
7	chr9:72759200-72774400	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr9:72759600-72800000	Weak transcription	Right Ventricle	heart
9	chr9:72759800-72774000	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr9:72759800-72792200	Weak transcription	HMEC	breast
11	chr9:72760000-72785200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr9:72766200-72785200	Weak transcription	Left Ventricle	heart
13	chr9:72767000-72775400	Weak transcription	Right Atrium	heart
14	chr9:72767400-72780200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr9:72767600-72774200	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr9:72767800-72774600	Weak transcription	Fetal Stomach	stomach
17	chr9:72768600-72780200	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr9:72769000-72776000	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr9:72769200-72774600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr9:72769400-72775000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr9:72769400-72779800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr9:72770000-72774800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr9:72770000-72783600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr9:72770600-72774400	Weak transcription	Ovary	ovary
25	chr9:72770800-72774600	Weak transcription	Stomach Smooth Muscle	stomach
26	chr9:72771600-72780200	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr9:72771800-72774400	Weak transcription	NH-A	brain
28	chr9:72772000-72774800	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr9:72772000-72775600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr9:72772000-72775600	Weak transcription	Aorta	Aorta
31	chr9:72772200-72774400	Weak transcription	Osteobl	bone
32	chr9:72772400-72775000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr9:72772400-72775200	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr9:72772400-72776400	Weak transcription	NHDF-Ad	bronchial
35	chr9:72772600-72773800	Weak transcription	Colon Smooth Muscle	Colon
36	chr9:72772600-72774400	Weak transcription	HSMM	muscle
37	chr9:72773000-72773800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr9:72773000-72774400	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr9:72773200-72774400	Weak transcription	HSMMtube	muscle
40	chr9:72773200-72783200	Weak transcription	Pancreas	Pancrea
41	chr9:72773600-72774400	Enhancers	Rectal Smooth Muscle	rectum

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