Variant report

Variant	rs60596616
Chromosome Location	chr7:140705285-140705286
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	chr7:140704745-140705444	SK-N-SH	brain:	n/a	n/a
2	POLR2A	chr7:140705269-140705659	ProgFib	skin:	n/a	n/a
3	POLR2A	chr7:140705214-140705371	HepG2	liver:	n/a	n/a
4	POLR2A	chr7:140704912-140705318	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr7:140704276-140705859	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:140705059..140707957-chr7:140712548..140716287,5	K562	blood:

Variant related genes	Relation type
ENSG00000273081	TF binding region
ENSG00000090263	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10224455	0.86[AFR][1000 genomes]
rs10230145	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10244762	0.94[AFR][1000 genomes]
rs17161814	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56095977	0.94[AFR][1000 genomes]
rs58061904	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59389100	0.94[AFR][1000 genomes]
rs60763228	0.92[AFR][1000 genomes]
rs61594049	0.94[AFR][1000 genomes]
rs6972661	0.87[AFR][1000 genomes]
rs73737152	0.87[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	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
2	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
3	nsv1026448	chr7:140636599-140716829	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:140698400-140705400	Weak transcription	Fetal Lung	lung
2	chr7:140698600-140713000	Weak transcription	Psoas Muscle	Psoas
3	chr7:140699600-140713800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr7:140700600-140705600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr7:140701000-140706600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr7:140701200-140705600	Weak transcription	Small Intestine	intestine
7	chr7:140701400-140713400	Weak transcription	NHLF	lung
8	chr7:140702000-140705400	Weak transcription	Primary B cells from peripheral blood	blood
9	chr7:140702000-140705400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr7:140702000-140707400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr7:140702000-140709200	Weak transcription	Fetal Kidney	kidney
12	chr7:140702200-140705400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr7:140702200-140705600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr7:140702400-140705400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr7:140702400-140705600	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr7:140702600-140705600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr7:140702800-140713200	Weak transcription	HSMMtube	muscle
18	chr7:140703000-140705400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr7:140703000-140705600	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr7:140703000-140705600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr7:140703200-140705800	Weak transcription	Primary hematopoietic stem cells	blood
22	chr7:140703200-140709400	Weak transcription	HSMM	muscle
23	chr7:140703200-140713800	Weak transcription	Stomach Mucosa	stomach
24	chr7:140703400-140705600	Weak transcription	Left Ventricle	heart
25	chr7:140703400-140705800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr7:140703400-140705800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr7:140703400-140706000	Weak transcription	K562	blood
28	chr7:140703400-140713800	Weak transcription	Gastric	stomach
29	chr7:140703600-140705400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr7:140703600-140705400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr7:140703600-140705400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr7:140703600-140705400	Weak transcription	Adipose Nuclei	Adipose
33	chr7:140703600-140705400	Weak transcription	Brain Anterior Caudate	brain
34	chr7:140703600-140706000	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr7:140703600-140706000	Weak transcription	HMEC	breast
36	chr7:140703600-140706200	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr7:140703600-140706600	Weak transcription	Right Ventricle	heart
38	chr7:140703600-140710800	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr7:140703600-140713800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr7:140703600-140713800	Weak transcription	Lung	lung
41	chr7:140703800-140705400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr7:140703800-140705400	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr7:140703800-140705400	Weak transcription	Brain Substantia Nigra	brain
44	chr7:140703800-140705400	Weak transcription	NHEK	skin
45	chr7:140703800-140705600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr7:140703800-140705600	Weak transcription	Duodenum Mucosa	Duodenum
47	chr7:140703800-140705600	Weak transcription	Monocytes-CD14+_RO01746	blood
48	chr7:140703800-140705800	Weak transcription	Pancreas	Pancrea
49	chr7:140703800-140707200	Weak transcription	Spleen	Spleen
50	chr7:140703800-140707400	Weak transcription	Fetal Intestine Small	intestine

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