Variant report

Variant	rs573857227
Chromosome Location	chr7:50859695-50859696
allele	C/G
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	chr7:50857865..50859927-chr7:50902975..50905675,2	K562	blood:
3	chr1:165797659..165798365-chr7:50859677..50860628,2	Hela-S3	cervix:
4	chr7:50425673..50428002-chr7:50857921..50860124,2	K562	blood:
5	chr7:50672342..50675062-chr7:50858858..50861329,2	K562	blood:
6	chr7:50859012..50860567-chr7:50873879..50876072,2	K562	blood:
7	chr7:50829955..50831834-chr7:50857481..50859941,2	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: 5 )
Associated
traits (count: 0)

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	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

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50853400-50859800	Weak transcription	Gastric	stomach
2	chr7:50857200-50859800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr7:50857200-50861800	Active TSS	Right Atrium	heart
4	chr7:50857400-50861800	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr7:50857800-50859800	Flanking Active TSS	HUVEC	blood vessel
6	chr7:50858200-50859800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr7:50858200-50859800	Flanking Active TSS	Liver	Liver
8	chr7:50858200-50859800	Flanking Active TSS	NH-A	brain
9	chr7:50858200-50860000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
10	chr7:50858200-50861600	Active TSS	Left Ventricle	heart
11	chr7:50858400-50860000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr7:50858400-50860000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
13	chr7:50858400-50860000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
14	chr7:50858400-50860200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr7:50858400-50860400	Flanking Active TSS	Adipose Nuclei	Adipose
16	chr7:50858800-50859800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr7:50858800-50859800	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
18	chr7:50858800-50859800	Flanking Active TSS	A549	lung
19	chr7:50858800-50859800	Flanking Active TSS	Hela-S3	cervix
20	chr7:50858800-50860000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
21	chr7:50858800-50860600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr7:50858800-50861800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr7:50858800-50861800	Active TSS	Pancreas	Pancrea
24	chr7:50859000-50859800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr7:50859000-50859800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr7:50859000-50860000	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
27	chr7:50859000-50860000	Flanking Active TSS	Rectal Smooth Muscle	rectum
28	chr7:50859000-50860000	Flanking Active TSS	Stomach Smooth Muscle	stomach
29	chr7:50859000-50860200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr7:50859000-50860200	Flanking Active TSS	Osteobl	bone
31	chr7:50859000-50860400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr7:50859200-50859800	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
33	chr7:50859200-50859800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
34	chr7:50859200-50859800	Active TSS	Colonic Mucosa	Colon
35	chr7:50859200-50859800	Flanking Active TSS	Duodenum Mucosa	Duodenum
36	chr7:50859200-50859800	Bivalent/Poised TSS	Fetal Brain Female	brain
37	chr7:50859200-50859800	Active TSS	Fetal Muscle Trunk	muscle
38	chr7:50859200-50860200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr7:50859200-50861400	Active TSS	Esophagus	oesophagus
40	chr7:50859200-50861600	Active TSS	Lung	lung
41	chr7:50859200-50861800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr7:50859400-50859800	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr7:50859400-50859800	Weak transcription	Spleen	Spleen
44	chr7:50859400-50860000	Flanking Bivalent TSS/Enh	NHEK	skin
45	chr7:50859400-50860200	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
46	chr7:50859400-50860200	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
47	chr7:50859400-50860200	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
48	chr7:50859400-50860400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
49	chr7:50859400-50860400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
50	chr7:50859400-50860400	Active TSS	Brain Substantia Nigra	brain

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