Variant report

Variant	rs2718446
Chromosome Location	chr4:148549000-148549001
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr4:148548841-148549149	GM12878	blood:	n/a	n/a
2	POLR2A	chr4:148548819-148549065	MCF-7	breast:	n/a	n/a
3	POLR2A	chr4:148548944-148549024	K562	blood:	n/a	n/a
4	POLR2A	chr4:148548835-148549281	GM12892	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:148541060..148543503-chr4:148546785..148549015,2	MCF-7	breast:
2	chr4:148545096..148546653-chr4:148547913..148549905,2	K562	blood:

Variant related genes	Relation type
TMEM184C	TF binding region

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

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs13119467	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028958	chr4:148377752-148793485	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv830110	chr4:148432125-148595119	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv428776	chr4:148432125-148595119	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv498083	chr4:148519825-148917583	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
5	nsv1019205	chr4:148524852-148576265	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:130 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:148539400-148576800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr4:148539600-148554200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr4:148539800-148550000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr4:148539800-148557200	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr4:148540800-148561000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr4:148541000-148549600	Strong transcription	Fetal Muscle Trunk	muscle
7	chr4:148541400-148554800	Weak transcription	A549	lung
8	chr4:148541400-148563400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr4:148542200-148564200	Strong transcription	Fetal Thymus	thymus
10	chr4:148542400-148560400	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr4:148542400-148562200	Weak transcription	Fetal Brain Male	brain
12	chr4:148542400-148575000	Weak transcription	Small Intestine	intestine
13	chr4:148542400-148576600	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr4:148542600-148554000	Weak transcription	Brain Anterior Caudate	brain
15	chr4:148542600-148557000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr4:148542600-148565200	Weak transcription	Fetal Heart	heart
17	chr4:148542600-148567400	Weak transcription	Stomach Mucosa	stomach
18	chr4:148542800-148549400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr4:148543000-148560400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr4:148543200-148550800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr4:148543200-148551200	Strong transcription	Primary T cells from cord blood	blood
22	chr4:148543200-148559600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr4:148543200-148560800	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr4:148543400-148553600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr4:148543600-148549600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr4:148543600-148559000	Strong transcription	Placenta	Placenta
27	chr4:148543600-148560000	Strong transcription	Primary B cells from peripheral blood	blood
28	chr4:148543800-148550200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr4:148543800-148550200	Strong transcription	Primary B cells from cord blood	blood
30	chr4:148543800-148550600	Strong transcription	Fetal Brain Female	brain
31	chr4:148543800-148550800	Strong transcription	Fetal Intestine Large	intestine
32	chr4:148543800-148551600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
33	chr4:148543800-148552400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr4:148543800-148558200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr4:148543800-148558800	Strong transcription	Rectal Mucosa Donor 29	rectum
36	chr4:148543800-148559000	Strong transcription	Osteobl	bone
37	chr4:148543800-148559800	Strong transcription	Rectal Mucosa Donor 31	rectum
38	chr4:148543800-148560000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr4:148543800-148560200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr4:148543800-148560200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr4:148543800-148560400	Strong transcription	HSMM	muscle
42	chr4:148543800-148563800	Strong transcription	Primary neutrophils fromperipheralblood	blood
43	chr4:148543800-148564200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr4:148543800-148565400	Strong transcription	Liver	Liver
45	chr4:148544000-148549600	Strong transcription	Primary T helper naive cells from peripheral blood	blood
46	chr4:148544000-148554200	Weak transcription	Brain Angular Gyrus	brain
47	chr4:148544000-148558800	Strong transcription	Duodenum Mucosa	Duodenum
48	chr4:148544000-148560000	Strong transcription	Primary T helper cells fromperipheralblood	blood
49	chr4:148544200-148553000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr4:148544200-148557000	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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