Variant report

Variant	rs1714009
Chromosome Location	chr4:57945371-57945372
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:57943158..57945422-chr4:57946459..57948764,2	K562	blood:
2	chr4:57944252..57946823-chr4:57975911..57977962,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000245067	Chromatin interaction
ENSG00000163453	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10015212	0.95[ASN][1000 genomes]
rs10019698	0.85[ASN][1000 genomes]
rs11722333	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1522609	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1620509	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1714004	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1714005	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1714006	0.95[ASN][1000 genomes]
rs1714007	0.95[ASN][1000 genomes]
rs1714008	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1718829	0.95[ASN][1000 genomes]
rs1718858	0.95[ASN][1000 genomes]
rs1718859	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1718861	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4242004	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6827171	0.85[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	nsv868815	chr4:57114268-58084688	Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:57932400-57945600	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr4:57932400-57947600	Genic enhancers	Osteobl	bone
3	chr4:57934400-57951600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr4:57934600-57948200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr4:57935800-57948000	Weak transcription	Fetal Muscle Leg	muscle
6	chr4:57937400-57948000	Weak transcription	Brain Cingulate Gyrus	brain
7	chr4:57937800-57946800	Weak transcription	Adipose Nuclei	Adipose
8	chr4:57938000-57945600	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr4:57938000-57955800	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr4:57938800-57947000	Weak transcription	Esophagus	oesophagus
11	chr4:57939800-57949800	Enhancers	HMEC	breast
12	chr4:57940000-57946200	Weak transcription	Lung	lung
13	chr4:57941400-57947000	Weak transcription	Brain Substantia Nigra	brain
14	chr4:57942000-57947000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr4:57942000-57947800	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr4:57942200-57946600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr4:57942600-57945600	Weak transcription	Primary hematopoietic stem cells	blood
18	chr4:57942800-57947000	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr4:57942800-57947000	Enhancers	HUVEC	blood vessel
20	chr4:57942800-57960400	Weak transcription	Psoas Muscle	Psoas
21	chr4:57943200-57950000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr4:57943600-57945800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr4:57943600-57946000	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr4:57943800-57945400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr4:57943800-57945800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr4:57943800-57946800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr4:57943800-57948600	Enhancers	HSMM	muscle
28	chr4:57943800-57950200	Enhancers	NHLF	lung
29	chr4:57944000-57946200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr4:57944000-57947000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr4:57944000-57947000	Genic enhancers	HSMMtube	muscle
32	chr4:57944000-57948200	Enhancers	Fetal Lung	lung
33	chr4:57944000-57948400	Enhancers	Fetal Stomach	stomach
34	chr4:57944200-57945400	Enhancers	Sigmoid Colon	Sigmoid Colon
35	chr4:57944200-57945800	Enhancers	H1 Cell Line	embryonic stem cell
36	chr4:57944200-57945800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr4:57944200-57945800	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr4:57944200-57946000	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr4:57944200-57946200	Flanking Active TSS	A549	lung
40	chr4:57944400-57945600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
41	chr4:57944400-57945600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr4:57944400-57945600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr4:57944400-57945800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr4:57944400-57946000	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr4:57944400-57946200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr4:57944400-57946400	Enhancers	Fetal Intestine Small	intestine
47	chr4:57944400-57964000	Weak transcription	Fetal Thymus	thymus
48	chr4:57944600-57945400	Flanking Active TSS	Fetal Heart	heart
49	chr4:57944600-57945800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr4:57944600-57946000	Active TSS	Pancreatic Islets	Pancreatic Islet

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