Variant report

Variant	rs375164514
Chromosome Location	chr4:103807969-103807970
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:103801030..103803497-chr4:103805639..103808341,2	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv594957	chr4:103728010-103870091	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
2	esv1802717	chr4:103765156-103870091	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	esv2757946	chr4:103780705-104057321	Strong transcription Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	esv2759270	chr4:103780705-104057321	ZNF genes & repeats Strong transcription Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	nsv879683	chr4:103785051-103916717	Flanking Active TSS Genic enhancers Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
6	esv1849799	chr4:103787351-103881772	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
7	nsv528680	chr4:103807720-103832927	Weak transcription Enhancers Strong transcription Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv461598	chr4:103807720-103953389	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
9	nsv594978	chr4:103807720-103953389	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:103791200-103834800	Weak transcription	Ovary	ovary
2	chr4:103791400-103818600	Weak transcription	HSMMtube	muscle
3	chr4:103792200-103811000	Weak transcription	Osteobl	bone
4	chr4:103792800-103811400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr4:103793200-103810200	Weak transcription	HSMM	muscle
6	chr4:103796000-103809400	Weak transcription	HUVEC	blood vessel
7	chr4:103796000-103810800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr4:103796400-103811000	Weak transcription	Left Ventricle	heart
9	chr4:103796400-103819800	Weak transcription	Stomach Smooth Muscle	stomach
10	chr4:103798600-103811000	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr4:103798800-103811000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr4:103799000-103808200	Weak transcription	A549	lung
13	chr4:103799000-103808400	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr4:103799000-103809400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr4:103799000-103809400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr4:103799000-103809800	Weak transcription	Lung	lung
17	chr4:103799000-103810000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr4:103799000-103810400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr4:103799000-103810600	Weak transcription	HMEC	breast
20	chr4:103799000-103811000	Weak transcription	Primary T cells from cord blood	blood
21	chr4:103799000-103811400	Weak transcription	Fetal Muscle Trunk	muscle
22	chr4:103799000-103812800	Weak transcription	Brain Hippocampus Middle	brain
23	chr4:103799000-103816800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr4:103799000-103817000	Weak transcription	Fetal Stomach	stomach
25	chr4:103799200-103810600	Weak transcription	Fetal Brain Female	brain
26	chr4:103799200-103811000	Weak transcription	Fetal Intestine Large	intestine
27	chr4:103799200-103812400	Weak transcription	Fetal Muscle Leg	muscle
28	chr4:103799200-103812400	Weak transcription	Fetal Thymus	thymus
29	chr4:103799200-103817200	Weak transcription	Brain Germinal Matrix	brain
30	chr4:103799200-103819400	Weak transcription	Thymus	Thymus
31	chr4:103799400-103811000	Weak transcription	Primary B cells from cord blood	blood
32	chr4:103799600-103811200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr4:103799600-103812600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr4:103799800-103810800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr4:103800000-103808200	Weak transcription	Adipose Nuclei	Adipose
36	chr4:103800000-103812600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr4:103800200-103811400	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr4:103801000-103809800	Weak transcription	HepG2	liver
39	chr4:103801000-103811000	Weak transcription	Liver	Liver
40	chr4:103801400-103811400	Weak transcription	Fetal Intestine Small	intestine
41	chr4:103803000-103812800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr4:103803600-103809400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr4:103803800-103809200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr4:103803800-103817200	Weak transcription	GM12878-XiMat	blood
45	chr4:103804200-103810400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr4:103804600-103808200	Weak transcription	Fetal Lung	lung
47	chr4:103804800-103808800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr4:103804800-103810000	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr4:103804800-103819000	Weak transcription	K562	blood
50	chr4:103805600-103808000	Strong transcription	Primary hematopoietic stem cells short term culture	blood

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