Variant report

Variant	rs115306625
Chromosome Location	chr7:50860409-50860410
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:50820026..50825124-chr7:50858182..50862797,5	K562	blood:
2	chr1:165797659..165798365-chr7:50859677..50860628,2	Hela-S3	cervix:
3	chr7:50672342..50675062-chr7:50858858..50861329,2	K562	blood:
4	chr7:50823624..50825816-chr7:50859906..50861742,2	K562	blood:
5	chr7:50859012..50860567-chr7:50873879..50876072,2	K562	blood:
6	chr7:50799534..50801547-chr7:50859929..50861719,2	K562	blood:
7	chr7:50814324..50816744-chr7:50859392..50862105,3	K562	blood:

Variant related genes	Relation type
ENSG00000106070	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016665	chr7:50452552-51404524	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv824091	chr7:50828682-50885984	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv538835	chr7:50839656-50867735	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv824092	chr7:50846084-50865531	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	esv3440721	chr7:50859483-50862031	Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	esv3439656	chr7:50859783-50862481	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	esv3377483	chr7:50859883-50862631	Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	esv13718	chr7:50860377-50861113	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50857200-50861800	Active TSS	Right Atrium	heart
2	chr7:50857400-50861800	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr7:50858200-50861600	Active TSS	Left Ventricle	heart
4	chr7:50858800-50860600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr7:50858800-50861800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr7:50858800-50861800	Active TSS	Pancreas	Pancrea
7	chr7:50859200-50861400	Active TSS	Esophagus	oesophagus
8	chr7:50859200-50861600	Active TSS	Lung	lung
9	chr7:50859200-50861800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr7:50859400-50861400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
11	chr7:50859400-50861600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr7:50859400-50861600	Active TSS	Aorta	Aorta
13	chr7:50859400-50861600	Active TSS	Fetal Kidney	kidney
14	chr7:50859400-50861600	Active TSS	Ovary	ovary
15	chr7:50859400-50861600	Active TSS	Psoas Muscle	Psoas
16	chr7:50859400-50861600	Active TSS	Right Ventricle	heart
17	chr7:50859400-50861800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr7:50859400-50861800	Bivalent/Poised TSS	Thymus	Thymus
19	chr7:50859400-50861800	Bivalent/Poised TSS	HepG2	liver
20	chr7:50859400-50861800	Active TSS	HSMM	muscle
21	chr7:50859600-50860600	Flanking Active TSS	Primary hematopoietic stem cells	blood
22	chr7:50859600-50860600	Active TSS	Colon Smooth Muscle	Colon
23	chr7:50859600-50860600	Active TSS	NHDF-Ad	bronchial
24	chr7:50859600-50861400	Active TSS	HUES48 Cell Line	embryonic stem cell
25	chr7:50859600-50861400	Active TSS	HUES6 Cell Line	embryonic stem cell
26	chr7:50859600-50861400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr7:50859600-50861400	Active TSS	Cortex derived primary cultured neurospheres	brain
28	chr7:50859600-50861400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr7:50859600-50861400	Active TSS	K562	blood
30	chr7:50859600-50861600	Active TSS	HSMMtube	muscle
31	chr7:50859600-50861800	Active TSS	H9 Cell Line	embryonic stem cell
32	chr7:50859600-50861800	Bivalent/Poised TSS	HMEC	breast
33	chr7:50859800-50860600	Active TSS	ES-I3 Cell Line	embryonic stem cell
34	chr7:50859800-50860600	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle
35	chr7:50859800-50861000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr7:50859800-50861000	Active TSS	Spleen	Spleen
37	chr7:50859800-50861400	Active TSS	H1 Cell Line	embryonic stem cell
38	chr7:50859800-50861400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr7:50859800-50861400	Active TSS	Hela-S3	cervix
40	chr7:50859800-50861400	Active TSS	HUVEC	blood vessel
41	chr7:50859800-50861400	Active TSS	NH-A	brain
42	chr7:50859800-50861600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr7:50859800-50861600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr7:50859800-50861600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr7:50859800-50861600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr7:50859800-50861600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr7:50859800-50861600	Active TSS	A549	lung
48	chr7:50859800-50861800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr7:50859800-50861800	Active TSS	Breast Myoepithelial Primary Cells	Breast
50	chr7:50859800-50861800	Active TSS	Gastric	stomach

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