Variant report

Variant	rs73715545
Chromosome Location	chr7:104902360-104902361
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:104893974..104896006-chr7:104900694..104903454,2	K562	blood:
2	chr7:104902229..104905190-chr7:104911272..104913681,2	MCF-7	breast:
3	chr7:104800362..104802924-chr7:104902237..104904546,2	MCF-7	breast:

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10227783	1.00[EUR][1000 genomes]
rs10429247	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1204079	1.00[EUR][1000 genomes]
rs1204081	1.00[EUR][1000 genomes]
rs1204082	1.00[EUR][1000 genomes]
rs12111884	1.00[EUR][1000 genomes]
rs12112114	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2299302	1.00[EUR][1000 genomes]
rs28832590	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55931372	1.00[EUR][1000 genomes]
rs56063525	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56296263	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56930622	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57280586	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58306520	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59691189	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60188077	1.00[EUR][1000 genomes]
rs60294737	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60766560	1.00[EUR][1000 genomes]
rs73404021	1.00[EUR][1000 genomes]
rs73715438	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73715439	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73715452	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73716650	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73716654	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73717957	1.00[EUR][1000 genomes]
rs73717959	1.00[EUR][1000 genomes]
rs73717961	1.00[EUR][1000 genomes]
rs73717963	1.00[EUR][1000 genomes]
rs757957	1.00[EUR][1000 genomes]
rs9969144	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34588	chr7:104737612-105153242	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	esv2757233	chr7:104758250-105208492	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	esv2759549	chr7:104758250-105208492	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv8196	chr7:104763559-105155978	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	esv34580	chr7:104763580-105153242	Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	esv2758127	chr7:104766707-105110581	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv1028228	chr7:104807207-105182998	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer 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	39 gene(s)	inside rSNPs	diseases
8	nsv932138	chr7:104826194-105152816	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
9	nsv1015688	chr7:104849770-105182998	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
10	nsv888928	chr7:104897964-104944847	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:104869600-104909200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:104879000-104907800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr7:104885400-104907000	Weak transcription	Fetal Intestine Small	intestine
4	chr7:104886400-104916600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr7:104891600-104907800	Weak transcription	Aorta	Aorta
6	chr7:104892200-104906600	Weak transcription	Colon Smooth Muscle	Colon
7	chr7:104896400-104909000	Weak transcription	Pancreas	Pancrea
8	chr7:104897000-104905400	Weak transcription	Fetal Brain Male	brain
9	chr7:104897600-104906800	Weak transcription	Right Ventricle	heart
10	chr7:104897600-104907400	Weak transcription	Right Atrium	heart
11	chr7:104898000-104902400	Weak transcription	NH-A	brain
12	chr7:104898000-104907200	Weak transcription	Fetal Kidney	kidney
13	chr7:104898200-104907200	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr7:104898600-104902400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr7:104898600-104903800	Weak transcription	Colonic Mucosa	Colon
16	chr7:104898600-104904000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr7:104898600-104905800	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr7:104898600-104909000	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr7:104898600-104909000	Weak transcription	Small Intestine	intestine
20	chr7:104898800-104906000	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr7:104898800-104906400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr7:104898800-104907800	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr7:104898800-104907800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr7:104899000-104904600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr7:104899000-104905800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr7:104899000-104906800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr7:104899200-104902400	Weak transcription	Thymus	Thymus
28	chr7:104899200-104904400	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr7:104899400-104907000	Weak transcription	Primary B cells from cord blood	blood
30	chr7:104901600-104903200	Enhancers	Fetal Muscle Leg	muscle
31	chr7:104901600-104903200	Enhancers	Stomach Mucosa	stomach
32	chr7:104901800-104905400	Enhancers	Fetal Thymus	thymus
33	chr7:104902000-104902400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr7:104902000-104902400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr7:104902000-104902600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr7:104902000-104902600	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
37	chr7:104902000-104902600	Enhancers	Primary T helper cells PMA-I stimulated	--
38	chr7:104902000-104902600	Enhancers	Adipose Nuclei	Adipose
39	chr7:104902000-104902600	Enhancers	Fetal Heart	heart
40	chr7:104902000-104902600	Enhancers	Rectal Mucosa Donor 31	rectum
41	chr7:104902000-104902600	Enhancers	Hela-S3	cervix
42	chr7:104902000-104902600	Enhancers	K562	blood
43	chr7:104902000-104902800	Enhancers	Pancreatic Islets	Pancreatic Islet
44	chr7:104902000-104902800	Enhancers	A549	lung
45	chr7:104902000-104903000	Enhancers	Skeletal Muscle Female	skeletal muscle
46	chr7:104902000-104904800	Enhancers	Brain Hippocampus Middle	brain
47	chr7:104902200-104902400	Enhancers	Primary T cells from cord blood	blood
48	chr7:104902200-104902400	Genic enhancers	Brain Anterior Caudate	brain
49	chr7:104902200-104902400	Weak transcription	Fetal Brain Female	brain
50	chr7:104902200-104902600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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