Variant report

Variant	rs13083045
Chromosome Location	chr3:49821361-49821362
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	chr3:49737567..49739735-chr3:49821150..49823977,2	MCF-7	breast:
2	chr3:49816876..49821411-chr3:49821519..49825209,5	K562	blood:

Variant related genes	Relation type
ENSG00000164068	Chromatin interaction
ENSG00000176095	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1138176	1.00[LWK][hapmap]
rs11917753	1.00[LWK][hapmap]
rs13071087	1.00[LWK][hapmap]
rs13078735	1.00[LWK][hapmap]
rs34964130	1.00[LWK][hapmap]
rs7356069	1.00[LWK][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1796352	chr3:49687101-49949959	Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv834688	chr3:49811115-50019299	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	esv1809827	chr3:49812331-49934179	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv876766	chr3:49817450-49961780	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 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	chr3:49775800-49823000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr3:49785600-49822400	Weak transcription	HSMMtube	muscle
3	chr3:49785600-49822600	Weak transcription	Esophagus	oesophagus
4	chr3:49786000-49823000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr3:49786200-49822400	Weak transcription	HMEC	breast
6	chr3:49795400-49822400	Weak transcription	Stomach Mucosa	stomach
7	chr3:49804000-49822600	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr3:49807800-49822600	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr3:49809400-49822800	Weak transcription	A549	lung
10	chr3:49809600-49822400	Weak transcription	NHDF-Ad	bronchial
11	chr3:49810400-49822400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr3:49812000-49822800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr3:49812200-49822800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr3:49812800-49821800	Weak transcription	Fetal Heart	heart
15	chr3:49812800-49822400	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr3:49812800-49822400	Weak transcription	HSMM	muscle
17	chr3:49813200-49822400	Weak transcription	Hela-S3	cervix
18	chr3:49814000-49821800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr3:49814800-49822400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr3:49815800-49822400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr3:49816600-49821800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr3:49816600-49822600	Strong transcription	HUES64 Cell Line	embryonic stem cell
23	chr3:49817000-49821400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr3:49817400-49822000	Strong transcription	Fetal Muscle Trunk	muscle
25	chr3:49817800-49821600	Genic enhancers	Primary T cells fromperipheralblood	blood
26	chr3:49817800-49821600	Strong transcription	Fetal Muscle Leg	muscle
27	chr3:49817800-49822000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr3:49818200-49821800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
29	chr3:49818200-49822200	Strong transcription	Fetal Intestine Large	intestine
30	chr3:49818200-49823200	Weak transcription	Gastric	stomach
31	chr3:49818400-49821400	Strong transcription	Primary monocytes fromperipheralblood	blood
32	chr3:49818400-49821600	Weak transcription	Right Atrium	heart
33	chr3:49818400-49821600	Weak transcription	GM12878-XiMat	blood
34	chr3:49818400-49821800	Strong transcription	Placenta	Placenta
35	chr3:49818400-49822200	Weak transcription	Psoas Muscle	Psoas
36	chr3:49818400-49822200	Strong transcription	Thymus	Thymus
37	chr3:49818400-49822400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr3:49818400-49822400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
39	chr3:49818600-49822400	Strong transcription	Fetal Intestine Small	intestine
40	chr3:49818600-49822400	Weak transcription	NH-A	brain
41	chr3:49818800-49821800	Strong transcription	HUES6 Cell Line	embryonic stem cell
42	chr3:49819200-49821800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr3:49819200-49821800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr3:49819200-49821800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr3:49819200-49821800	Strong transcription	Left Ventricle	heart
46	chr3:49819200-49822000	Weak transcription	Primary B cells from cord blood	blood
47	chr3:49819200-49822200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr3:49819200-49822400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr3:49819200-49822400	Weak transcription	Primary hematopoietic stem cells	blood
50	chr3:49819200-49822400	Enhancers	Primary T helper cells PMA-I stimulated	--

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