Variant report

Variant	rs571600228
Chromosome Location	chr13:50365454-50365455
allele	A/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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:50365172..50367900-chr13:50655465..50657230,2	K562	blood:
2	chr13:50262508..50268089-chr13:50363531..50368771,13	MCF-7	breast:
3	chr13:50363329..50366279-chr13:50509762..50511637,2	MCF-7	breast:
4	chr13:50261767..50269137-chr13:50365068..50368535,12	MCF-7	breast:
5	chr13:50365136..50367359-chr13:50509492..50511604,3	MCF-7	breast:
6	chr13:50253326..50254069-chr13:50365169..50365855,3	MCF-7	breast:
7	chr13:50365087..50367801-chr13:50569333..50572997,5	MCF-7	breast:
8	chr13:50263387..50266299-chr13:50365424..50368132,3	K562	blood:
9	chr13:50363476..50366040-chr13:51498906..51500626,2	K562	blood:
10	chr13:50363308..50365589-chr13:50370131..50372850,2	K562	blood:
11	chr13:50263387..50265868-chr13:50365424..50368677,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000176124	Chromatin interaction
ENSG00000204977	Chromatin interaction
ENSG00000264864	Chromatin interaction
ENSG00000231607	Chromatin interaction
ENSG00000123178	Chromatin interaction
ENSG00000123179	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv900072	chr13:50266109-50381016	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv900073	chr13:50286218-50381016	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	esv1818134	chr13:50306897-50374102	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv900074	chr13:50317104-50381016	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv900075	chr13:50331992-50376858	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	esv3421253	chr13:50364151-50368649	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50358400-50365600	Weak transcription	Gastric	stomach
2	chr13:50362800-50365600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr13:50363400-50365800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr13:50363800-50365800	Enhancers	Small Intestine	intestine
5	chr13:50364000-50367600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr13:50364200-50367800	Active TSS	HUES6 Cell Line	embryonic stem cell
7	chr13:50364600-50365600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
8	chr13:50364600-50365800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr13:50364600-50365800	Flanking Active TSS	Fetal Brain Female	brain
10	chr13:50364600-50365800	Enhancers	Placenta Amnion	Placenta Amnion
11	chr13:50364600-50366000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr13:50364600-50366000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
13	chr13:50364600-50367600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr13:50364600-50367800	Active TSS	Aorta	Aorta
15	chr13:50364600-50368000	Active TSS	H1 Cell Line	embryonic stem cell
16	chr13:50364600-50368000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr13:50364600-50368000	Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr13:50364800-50365600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
19	chr13:50364800-50365600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
20	chr13:50364800-50365600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
21	chr13:50364800-50365600	Enhancers	Primary neutrophils fromperipheralblood	blood
22	chr13:50364800-50365600	Flanking Active TSS	NHEK	skin
23	chr13:50364800-50365800	Flanking Active TSS	HUVEC	blood vessel
24	chr13:50364800-50365800	Flanking Active TSS	NH-A	brain
25	chr13:50364800-50366000	Flanking Active TSS	Adipose Nuclei	Adipose
26	chr13:50364800-50366000	Flanking Active TSS	Liver	Liver
27	chr13:50364800-50366600	Active TSS	Right Atrium	heart
28	chr13:50364800-50367600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr13:50364800-50367600	Active TSS	Colonic Mucosa	Colon
30	chr13:50364800-50367800	Active TSS	A549	lung
31	chr13:50364800-50368000	Active TSS	ES-I3 Cell Line	embryonic stem cell
32	chr13:50365000-50365600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
33	chr13:50365000-50365600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
34	chr13:50365000-50365800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr13:50365000-50365800	Flanking Active TSS	Dnd41	blood
36	chr13:50365000-50366000	Flanking Active TSS	Primary hematopoietic stem cells	blood
37	chr13:50365000-50366000	Active TSS	Fetal Brain Male	brain
38	chr13:50365000-50367400	Active TSS	Cortex derived primary cultured neurospheres	brain
39	chr13:50365000-50367400	Active TSS	Fetal Intestine Large	intestine
40	chr13:50365000-50367400	Active TSS	Skeletal Muscle Male	skeletal muscle
41	chr13:50365000-50367400	Active TSS	Skeletal Muscle Female	skeletal muscle
42	chr13:50365000-50367400	Active TSS	HMEC	breast
43	chr13:50365000-50367400	Active TSS	NHLF	lung
44	chr13:50365000-50367600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr13:50365000-50367600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr13:50365000-50367600	Active TSS	Fetal Intestine Small	intestine
47	chr13:50365000-50367600	Active TSS	Fetal Kidney	kidney
48	chr13:50365000-50367600	Active TSS	GM12878-XiMat	blood
49	chr13:50365000-50367600	Active TSS	K562	blood
50	chr13:50365000-50367600	Active TSS	NHDF-Ad	bronchial

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