Variant report

Variant	rs57058283
Chromosome Location	chr7:139455078-139455079
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:139453368..139455574-chr7:139463117..139465527,2	MCF-7	breast:
2	chr7:139452434..139456811-chr7:139460763..139464163,5	K562	blood:
3	chr7:139453452..139456002-chr7:139674094..139676861,2	K562	blood:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs2240821	1.00[AFR][1000 genomes]
rs8192812	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1020234	chr7:139377822-139661964	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1032711	chr7:139411404-139684043	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv464732	chr7:139424022-139654256	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv608472	chr7:139424022-139654256	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv1018712	chr7:139429703-139658014	Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:139432200-139461800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr7:139432400-139458600	Weak transcription	Rectal Smooth Muscle	rectum
3	chr7:139432800-139469800	Weak transcription	Hela-S3	cervix
4	chr7:139433400-139455800	Enhancers	Brain Angular Gyrus	brain
5	chr7:139438400-139462800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr7:139438400-139467000	Weak transcription	Primary B cells from peripheral blood	blood
7	chr7:139438600-139462600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr7:139438800-139466200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr7:139439000-139462800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr7:139440600-139456000	Enhancers	Brain Anterior Caudate	brain
11	chr7:139440600-139457600	Enhancers	Brain Substantia Nigra	brain
12	chr7:139440600-139474600	Weak transcription	Fetal Brain Male	brain
13	chr7:139441000-139458400	Enhancers	Brain Hippocampus Middle	brain
14	chr7:139442400-139462000	Weak transcription	HUVEC	blood vessel
15	chr7:139444000-139466000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr7:139444600-139462600	Weak transcription	NHEK	skin
17	chr7:139445800-139460600	Weak transcription	HMEC	breast
18	chr7:139445800-139466000	Weak transcription	Primary hematopoietic stem cells	blood
19	chr7:139446600-139459000	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr7:139446600-139475800	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr7:139446600-139476400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr7:139446800-139476400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr7:139448400-139465400	Weak transcription	Primary B cells from cord blood	blood
24	chr7:139448600-139461200	Weak transcription	Aorta	Aorta
25	chr7:139449200-139455400	Weak transcription	GM12878-XiMat	blood
26	chr7:139449200-139466600	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr7:139450600-139455600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr7:139451400-139466000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr7:139451800-139456800	Enhancers	Brain Cingulate Gyrus	brain
30	chr7:139451800-139458000	Enhancers	Liver	Liver
31	chr7:139451800-139458200	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr7:139452000-139455600	Enhancers	Psoas Muscle	Psoas
33	chr7:139452000-139455800	Enhancers	Left Ventricle	heart
34	chr7:139452000-139455800	Enhancers	Right Atrium	heart
35	chr7:139452200-139455200	Weak transcription	Primary neutrophils fromperipheralblood	blood
36	chr7:139452200-139460600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr7:139452400-139455400	Enhancers	Rectal Mucosa Donor 29	rectum
38	chr7:139452800-139455200	Strong transcription	Monocytes-CD14+_RO01746	blood
39	chr7:139452800-139455600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr7:139452800-139455600	Enhancers	Esophagus	oesophagus
41	chr7:139453000-139460600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr7:139453200-139455600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
43	chr7:139453200-139466800	Weak transcription	Thymus	Thymus
44	chr7:139453400-139455600	Enhancers	Skeletal Muscle Female	skeletal muscle
45	chr7:139453400-139461200	Weak transcription	Fetal Lung	lung
46	chr7:139453600-139455600	Enhancers	Primary T helper cells PMA-I stimulated	--
47	chr7:139453600-139462400	Weak transcription	Fetal Kidney	kidney
48	chr7:139453600-139467600	Weak transcription	Fetal Muscle Trunk	muscle
49	chr7:139453800-139455200	Genic enhancers	Primary T cells from cord blood	blood
50	chr7:139453800-139455200	Genic enhancers	Brain Inferior Temporal Lobe	brain

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