Variant report

Variant	rs10245975
Chromosome Location	chr7:140619207-140619208
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:140588144..140589724-chr7:140618968..140621680,2	K562	blood:
2	chr7:140616663..140619453-chr7:140622737..140625012,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000157764	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10224321	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10225223	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10233009	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10238472	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10241940	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10245178	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10252634	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10255271	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10255476	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10258866	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10271135	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10278608	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10279071	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11974522	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11977231	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13437830	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13438167	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28371100	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28505512	0.81[AFR][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	nsv518139	chr7:140512661-140622355	Enhancers Weak transcription Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
2	nsv1017980	chr7:140601863-140721368	Flanking Active TSS Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1030195	chr7:140615828-140746345	Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:140593800-140623200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr7:140595800-140622400	Weak transcription	Aorta	Aorta
3	chr7:140597200-140623000	Weak transcription	Fetal Kidney	kidney
4	chr7:140599800-140622000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr7:140600000-140622000	Weak transcription	Brain Anterior Caudate	brain
6	chr7:140600800-140622600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr7:140604000-140622000	Weak transcription	Primary B cells from cord blood	blood
8	chr7:140604200-140623000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr7:140607200-140621800	Weak transcription	Dnd41	blood
10	chr7:140608600-140622000	Weak transcription	Adipose Nuclei	Adipose
11	chr7:140609200-140623200	Weak transcription	Fetal Stomach	stomach
12	chr7:140610800-140622600	Weak transcription	Right Atrium	heart
13	chr7:140610800-140623200	Weak transcription	Right Ventricle	heart
14	chr7:140612200-140623400	Weak transcription	Gastric	stomach
15	chr7:140613000-140622000	Weak transcription	Small Intestine	intestine
16	chr7:140613000-140622400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr7:140613200-140622000	Weak transcription	Fetal Intestine Large	intestine
18	chr7:140613200-140623200	Weak transcription	Psoas Muscle	Psoas
19	chr7:140613600-140623400	Weak transcription	Pancreas	Pancrea
20	chr7:140614000-140620200	Weak transcription	Colon Smooth Muscle	Colon
21	chr7:140614200-140621800	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr7:140614400-140621600	Weak transcription	A549	lung
23	chr7:140614400-140621800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr7:140614400-140621800	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr7:140614400-140622000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr7:140614400-140622000	Weak transcription	Brain Angular Gyrus	brain
27	chr7:140614400-140622000	Weak transcription	Fetal Heart	heart
28	chr7:140614400-140622000	Weak transcription	K562	blood
29	chr7:140614400-140623200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr7:140614600-140620600	Weak transcription	HepG2	liver
31	chr7:140614600-140622000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr7:140614800-140622200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr7:140616000-140623200	Weak transcription	Thymus	Thymus
34	chr7:140616400-140620200	Weak transcription	Primary T cells from cord blood	blood
35	chr7:140616400-140622400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr7:140616600-140620600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr7:140616600-140621800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr7:140617000-140620200	Weak transcription	Liver	Liver
39	chr7:140617200-140620400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr7:140617200-140621800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr7:140617400-140621800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr7:140617400-140623200	Weak transcription	Primary T cells fromperipheralblood	blood
43	chr7:140617400-140623400	Weak transcription	Left Ventricle	heart
44	chr7:140617600-140619800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr7:140617600-140621400	Weak transcription	Primary neutrophils fromperipheralblood	blood
46	chr7:140617800-140622600	Weak transcription	Stomach Smooth Muscle	stomach
47	chr7:140618000-140622000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr7:140618000-140622200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr7:140618000-140622200	Weak transcription	Fetal Brain Male	brain
50	chr7:140618000-140622600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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