Variant report

Variant	rs556439911
Chromosome Location	chr7:50859951-50859952
allele	-/TT
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

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	chr7:50425673..50428002-chr7:50857921..50860124,2	K562	blood:
4	chr7:50672342..50675062-chr7:50858858..50861329,2	K562	blood:
5	chr7:50823624..50825816-chr7:50859906..50861742,2	K562	blood:
6	chr7:50859012..50860567-chr7:50873879..50876072,2	K562	blood:
7	chr7:50799534..50801547-chr7:50859929..50861719,2	K562	blood:
8	chr7:50814324..50816744-chr7:50859392..50862105,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000106070	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:7 , 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

No data

Chromatin state (count:119 , 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	chr7:50858200-50860000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
4	chr7:50858200-50861600	Active TSS	Left Ventricle	heart
5	chr7:50858400-50860000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr7:50858400-50860000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
7	chr7:50858400-50860000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
8	chr7:50858400-50860200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr7:50858400-50860400	Flanking Active TSS	Adipose Nuclei	Adipose
10	chr7:50858800-50860000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
11	chr7:50858800-50860600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr7:50858800-50861800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr7:50858800-50861800	Active TSS	Pancreas	Pancrea
14	chr7:50859000-50860000	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
15	chr7:50859000-50860000	Flanking Active TSS	Rectal Smooth Muscle	rectum
16	chr7:50859000-50860000	Flanking Active TSS	Stomach Smooth Muscle	stomach
17	chr7:50859000-50860200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr7:50859000-50860200	Flanking Active TSS	Osteobl	bone
19	chr7:50859000-50860400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr7:50859200-50860200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr7:50859200-50861400	Active TSS	Esophagus	oesophagus
22	chr7:50859200-50861600	Active TSS	Lung	lung
23	chr7:50859200-50861800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr7:50859400-50860000	Flanking Bivalent TSS/Enh	NHEK	skin
25	chr7:50859400-50860200	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
26	chr7:50859400-50860200	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
27	chr7:50859400-50860200	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
28	chr7:50859400-50860400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
29	chr7:50859400-50860400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
30	chr7:50859400-50860400	Active TSS	Brain Substantia Nigra	brain
31	chr7:50859400-50861400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
32	chr7:50859400-50861600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr7:50859400-50861600	Active TSS	Aorta	Aorta
34	chr7:50859400-50861600	Active TSS	Fetal Kidney	kidney
35	chr7:50859400-50861600	Active TSS	Ovary	ovary
36	chr7:50859400-50861600	Active TSS	Psoas Muscle	Psoas
37	chr7:50859400-50861600	Active TSS	Right Ventricle	heart
38	chr7:50859400-50861800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr7:50859400-50861800	Bivalent/Poised TSS	Thymus	Thymus
40	chr7:50859400-50861800	Bivalent/Poised TSS	HepG2	liver
41	chr7:50859400-50861800	Active TSS	HSMM	muscle
42	chr7:50859600-50860000	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr7:50859600-50860000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
44	chr7:50859600-50860000	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
45	chr7:50859600-50860000	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
46	chr7:50859600-50860000	Flanking Active TSS	Brain Hippocampus Middle	brain
47	chr7:50859600-50860000	Flanking Active TSS	Fetal Heart	heart
48	chr7:50859600-50860000	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
49	chr7:50859600-50860000	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
50	chr7:50859600-50860000	Bivalent Enhancer	Fetal Thymus	thymus

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