Variant report

Variant	rs4731565
Chromosome Location	chr7:128865130-128865131
allele	C/T
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	chr1:45187446..45187986-chr7:128864766..128865366,2	Hela-S3	cervix:
2	chr7:128865013..128866542-chr7:128952036..128953985,2	MCF-7	breast:
3	chr7:128862636..128865560-chr7:129140029..129143022,2	K562	blood:
4	chr7:128864343..128867175-chr7:129072018..129074296,2	K562	blood:
5	chr11:17229628..17230195-chr7:128864877..128865497,2	Hela-S3	cervix:
6	chr7:128693684..128696131-chr7:128863096..128865879,2	MCF-7	breast:
7	chr7:128694449..128696467-chr7:128864942..128866484,2	K562	blood:
8	chr7:128694062..128696467-chr7:128864942..128866876,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000199377	Chromatin interaction
ENSG00000240204	Chromatin interaction
ENSG00000064419	Chromatin interaction
ENSG00000070081	Chromatin interaction
ENSG00000230359	Chromatin interaction
ENSG00000128578	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12154376	0.85[ASN][1000 genomes]
rs17168214	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2694571	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3734969	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831127	chr7:128716256-128874691	Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 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	chr7:128863600-128867200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr7:128863800-128865400	Active TSS	HepG2	liver
3	chr7:128863800-128865800	Active TSS	iPS-15b Cell Line	embryonic stem cell
4	chr7:128863800-128865800	Active TSS	iPS-18 Cell Line	embryonic stem cell
5	chr7:128863800-128865800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
6	chr7:128863800-128865800	Active TSS	Breast Myoepithelial Primary Cells	Breast
7	chr7:128863800-128865800	Active TSS	Duodenum Smooth Muscle	Duodenum
8	chr7:128863800-128866000	Active TSS	iPS-20b Cell Line	embryonic stem cell
9	chr7:128863800-128866200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr7:128863800-128866200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr7:128863800-128866200	Active TSS	HUES48 Cell Line	embryonic stem cell
12	chr7:128863800-128866200	Active TSS	HUES6 Cell Line	embryonic stem cell
13	chr7:128863800-128866200	Active TSS	HUES64 Cell Line	embryonic stem cell
14	chr7:128863800-128866200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr7:128863800-128866400	Active TSS	NHDF-Ad	bronchial
16	chr7:128863800-128866600	Active TSS	ES-I3 Cell Line	embryonic stem cell
17	chr7:128863800-128866600	Active TSS	H1 Cell Line	embryonic stem cell
18	chr7:128864000-128865200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr7:128864000-128865400	Active TSS	Primary T cells fromperipheralblood	blood
20	chr7:128864000-128865400	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
21	chr7:128864000-128865400	Active TSS	Fetal Muscle Trunk	muscle
22	chr7:128864000-128865400	Active TSS	Fetal Muscle Leg	muscle
23	chr7:128864000-128865400	Active TSS	Fetal Thymus	thymus
24	chr7:128864000-128865600	Active TSS	Skeletal Muscle Female	skeletal muscle
25	chr7:128864000-128865800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr7:128864000-128865800	Active TSS	Colonic Mucosa	Colon
27	chr7:128864000-128865800	Active TSS	A549	lung
28	chr7:128864000-128866000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr7:128864000-128866000	Active TSS	Right Ventricle	heart
30	chr7:128864000-128866200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
31	chr7:128864000-128866200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr7:128864000-128866200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr7:128864000-128866200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr7:128864000-128866200	Active TSS	Thymus	Thymus
35	chr7:128864000-128866200	Active TSS	HSMMtube	muscle
36	chr7:128864000-128866400	Active TSS	Pancreatic Islets	Pancreatic Islet
37	chr7:128864000-128866400	Active TSS	Placenta	Placenta
38	chr7:128864000-128866400	Active TSS	Psoas Muscle	Psoas
39	chr7:128864000-128866600	Active TSS	H9 Cell Line	embryonic stem cell
40	chr7:128864000-128866600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr7:128864000-128866600	Active TSS	Brain Germinal Matrix	brain
42	chr7:128864200-128865200	Active TSS	Adipose Nuclei	Adipose
43	chr7:128864200-128865400	Active TSS	Primary hematopoietic stem cells short term culture	blood
44	chr7:128864200-128865400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr7:128864200-128865400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr7:128864200-128865400	Active TSS	Spleen	Spleen
47	chr7:128864200-128865600	Active TSS	Primary T helper naive cells from peripheral blood	blood
48	chr7:128864200-128865600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
49	chr7:128864200-128865600	Active TSS	Primary T helper cells PMA-I stimulated	--
50	chr7:128864200-128865600	Active TSS	Primary T killer naive cells fromperipheralblood	blood

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