Variant report

Variant	rs13180883
Chromosome Location	chr5:14497279-14497280
allele	A/G
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	chr5:14497043-14497851	GM12878	blood:	n/a	n/a
2	POLR2A	chr5:14497179-14498184	SK-N-SH	brain:	n/a	n/a
3	POLR2A	chr5:14495857-14501184	U87	brain:	n/a	n/a
4	POLR2A	chr5:14497067-14497506	H1-neurons	neurons:	n/a	n/a
5	POLR2A	chr5:14495863-14499932	U87	brain:	n/a	n/a
6	POLR2A	chr5:14497149-14497407	GM12878	blood:	n/a	n/a
7	POLR2A	chr5:14496825-14497548	GM12892	blood:	n/a	n/a
8	POLR2A	chr5:14497158-14497400	GM12878	blood:	n/a	n/a
9	POLR2A	chr5:14497026-14497654	GM12892	blood:	n/a	n/a
10	POLR2A	chr5:14496830-14497744	GM12892	blood:	n/a	n/a
11	POLR2A	chr5:14496075-14499084	U87	brain:	n/a	n/a
12	POLR2A	chr5:14496295-14497509	SK-N-SH	brain:	n/a	n/a
13	POLR2A	chr5:14496075-14499694	U87	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:14487313..14490052-chr5:14496732..14498823,2	MCF-7	breast:
2	chr5:14490648..14493075-chr5:14495844..14498143,2	MCF-7	breast:

Variant related genes	Relation type
TRIO	TF binding region
ENSG00000038382	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs149197	1.00[ASW][hapmap]
rs25952	1.00[ASW][hapmap]
rs25961	1.00[ASW][hapmap]
rs31974	1.00[ASW][hapmap]
rs457897	1.00[ASW][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026914	chr5:14237782-14751588	Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1018187	chr5:14385164-15127103	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv461981	chr5:14426611-14509903	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv597240	chr5:14426611-14509903	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
5	nsv4725	chr5:14469602-14514446	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
6	nsv830211	chr5:14474675-14675776	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14446800-14511400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr5:14450800-14509000	Strong transcription	Primary B cells from peripheral blood	blood
3	chr5:14458200-14509200	Strong transcription	Cortex derived primary cultured neurospheres	brain
4	chr5:14458800-14509000	Strong transcription	Liver	Liver
5	chr5:14458800-14510600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr5:14459400-14508800	Strong transcription	HUES64 Cell Line	embryonic stem cell
7	chr5:14459400-14509000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
8	chr5:14464800-14511400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr5:14468200-14509000	Strong transcription	Ovary	ovary
10	chr5:14468400-14511000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr5:14470600-14509000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr5:14470600-14509800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr5:14470800-14502800	Strong transcription	HSMMtube	muscle
14	chr5:14471200-14509000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr5:14473600-14501600	Weak transcription	Fetal Heart	heart
16	chr5:14476600-14511200	Strong transcription	Fetal Intestine Small	intestine
17	chr5:14476800-14509000	Strong transcription	Duodenum Smooth Muscle	Duodenum
18	chr5:14477400-14511400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr5:14477800-14504800	Strong transcription	HMEC	breast
20	chr5:14478200-14509400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr5:14482400-14509800	Weak transcription	Psoas Muscle	Psoas
22	chr5:14483800-14500200	Weak transcription	Stomach Mucosa	stomach
23	chr5:14485800-14509600	Weak transcription	Small Intestine	intestine
24	chr5:14487400-14510000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr5:14488200-14503800	Strong transcription	HUES48 Cell Line	embryonic stem cell
26	chr5:14488200-14508800	Strong transcription	HUES6 Cell Line	embryonic stem cell
27	chr5:14488200-14509000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
28	chr5:14488400-14499600	Strong transcription	Fetal Kidney	kidney
29	chr5:14488400-14500800	Strong transcription	H1 Cell Line	embryonic stem cell
30	chr5:14488600-14501400	Strong transcription	HSMM	muscle
31	chr5:14488600-14510000	Strong transcription	Fetal Intestine Large	intestine
32	chr5:14488800-14499600	Strong transcription	HUVEC	blood vessel
33	chr5:14488800-14508000	Strong transcription	GM12878-XiMat	blood
34	chr5:14489400-14498600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr5:14489800-14499600	Strong transcription	NHEK	skin
36	chr5:14489800-14509000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr5:14490000-14501600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr5:14490800-14497800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr5:14491000-14508800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr5:14491000-14508800	Strong transcription	A549	lung
41	chr5:14491000-14509000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr5:14491000-14509200	Strong transcription	Stomach Smooth Muscle	stomach
43	chr5:14491200-14508800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
44	chr5:14491200-14510800	Strong transcription	Osteobl	bone
45	chr5:14491200-14511000	Strong transcription	Muscle Satellite Cultured Cells	--
46	chr5:14491400-14503200	Strong transcription	Left Ventricle	heart
47	chr5:14491400-14509000	Strong transcription	Sigmoid Colon	Sigmoid Colon
48	chr5:14491400-14510600	Strong transcription	Rectal Mucosa Donor 31	rectum
49	chr5:14491600-14499000	Strong transcription	Fetal Lung	lung
50	chr5:14491600-14502800	Strong transcription	Fetal Muscle Leg	muscle

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