Variant report

Variant	rs4744985
Chromosome Location	chr9:72774452-72774453
allele	A/G
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	EP300	chr9:72774434-72774809	SK-N-SH_RA	brain:	n/a	n/a
2	MAFK	chr9:72774381-72774581	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:72773930..72775877-chr9:72870890..72873802,2	MCF-7	breast:

Variant related genes	Relation type
MAMDC2-AS1	TF binding region
ENSG00000268364	Chromatin interaction

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10114223	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10511981	0.93[EUR][1000 genomes]
rs10735584	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10780924	1.00[ASN][1000 genomes]
rs10868800	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10868810	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11142348	0.82[EUR][1000 genomes]
rs11142364	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11142365	1.00[ASN][1000 genomes]
rs11142372	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11142377	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11142379	1.00[ASN][1000 genomes]
rs11142380	1.00[ASN][1000 genomes]
rs11142381	1.00[ASN][1000 genomes]
rs11521805	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11795149	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1180080	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1180084	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1180089	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1180097	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1180100	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1180110	1.00[ASN][1000 genomes]
rs1180113	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1180119	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1180134	0.86[EUR][1000 genomes]
rs1183311	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11999862	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17052678	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1888155	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1927094	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1927097	0.81[EUR][1000 genomes];1.00[ASN][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	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1927114	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1927123	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1927138	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1927140	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1927141	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1927145	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1927146	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1998972	0.93[EUR][1000 genomes]
rs2148854	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2148855	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2148860	0.90[EUR][1000 genomes]
rs2182733	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2209781	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2225128	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2309601	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2309637	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2309641	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2309645	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2309646	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2871297	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4744587	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4744980	0.93[EUR][1000 genomes]
rs66756859	0.82[EUR][1000 genomes]
rs7020575	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7042675	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72712293	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72712300	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7341691	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7848955	0.92[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];1.00[ASN][1000 genomes]
rs943532	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs943533	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs943535	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs943538	0.93[EUR][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:43 , 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	chr9:72759600-72800000	Weak transcription	Right Ventricle	heart
8	chr9:72759800-72792200	Weak transcription	HMEC	breast
9	chr9:72760000-72785200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr9:72766200-72785200	Weak transcription	Left Ventricle	heart
11	chr9:72767000-72775400	Weak transcription	Right Atrium	heart
12	chr9:72767400-72780200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr9:72767800-72774600	Weak transcription	Fetal Stomach	stomach
14	chr9:72768600-72780200	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr9:72769000-72776000	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr9:72769200-72774600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr9:72769400-72775000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr9:72769400-72779800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr9:72770000-72774800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr9:72770000-72783600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr9:72770800-72774600	Weak transcription	Stomach Smooth Muscle	stomach
22	chr9:72771600-72780200	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr9:72772000-72774800	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr9:72772000-72775600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr9:72772000-72775600	Weak transcription	Aorta	Aorta
26	chr9:72772400-72775000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr9:72772400-72775200	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr9:72772400-72776400	Weak transcription	NHDF-Ad	bronchial
29	chr9:72773200-72783200	Weak transcription	Pancreas	Pancrea
30	chr9:72773800-72774600	Genic enhancers	Colon Smooth Muscle	Colon
31	chr9:72774200-72774800	Genic enhancers	Duodenum Smooth Muscle	Duodenum
32	chr9:72774200-72775400	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr9:72774400-72774600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr9:72774400-72774600	Flanking Active TSS	Rectal Smooth Muscle	rectum
35	chr9:72774400-72774800	Enhancers	NH-A	brain
36	chr9:72774400-72775000	Genic enhancers	Ovary	ovary
37	chr9:72774400-72775200	Enhancers	HSMM	muscle
38	chr9:72774400-72775200	Enhancers	Osteobl	bone
39	chr9:72774400-72775800	Enhancers	Fetal Kidney	kidney
40	chr9:72774400-72775800	Enhancers	Sigmoid Colon	Sigmoid Colon
41	chr9:72774400-72776200	Genic enhancers	HSMMtube	muscle
42	chr9:72774400-72776400	Enhancers	Fetal Muscle Leg	muscle
43	chr9:72774400-72776600	Enhancers	Muscle Satellite Cultured Cells	--

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