Variant report

Variant	rs530507
Chromosome Location	chr6:13292425-13292426
allele	G/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	chr6:13292237-13292426	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:13288763..13290813-chr6:13291778..13294382,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000272379	TF binding region
ENSG00000272379	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs475776	0.81[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs542618	0.88[EUR][1000 genomes]
rs6924685	0.85[ASN][1000 genomes]
rs693758	0.88[EUR][1000 genomes]
rs6942028	0.85[ASN][1000 genomes]
rs7769621	0.85[EUR][1000 genomes]
rs7770755	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9367406	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9367413	1.00[ASN][1000 genomes]
rs9395628	0.85[ASN][1000 genomes]
rs9395637	0.85[ASN][1000 genomes]

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	nsv532021	chr6:13232627-13805381	Active TSS Genic enhancers Strong transcription Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv1028533	chr6:13239059-13484814	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv538136	chr6:13239059-13484814	Strong transcription Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv1034016	chr6:13248122-13418225	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS 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 miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:13274600-13302000	Weak transcription	Small Intestine	intestine
2	chr6:13274800-13292800	Weak transcription	Colon Smooth Muscle	Colon
3	chr6:13280000-13292600	Weak transcription	NHLF	lung
4	chr6:13284000-13293000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr6:13284000-13294200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr6:13285400-13302400	Weak transcription	HUVEC	blood vessel
7	chr6:13285800-13293000	Weak transcription	Brain Angular Gyrus	brain
8	chr6:13285800-13293000	Weak transcription	Brain Substantia Nigra	brain
9	chr6:13286600-13292800	Weak transcription	Colonic Mucosa	Colon
10	chr6:13287000-13303600	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr6:13287200-13292800	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr6:13287400-13294400	Weak transcription	Fetal Kidney	kidney
13	chr6:13287800-13294200	Weak transcription	A549	lung
14	chr6:13287800-13295200	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr6:13287800-13298200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr6:13288000-13294600	Weak transcription	Fetal Brain Male	brain
17	chr6:13288000-13296200	Strong transcription	Primary B cells from peripheral blood	blood
18	chr6:13288200-13292600	Weak transcription	Placenta	Placenta
19	chr6:13288200-13294200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr6:13288200-13294200	Strong transcription	Primary neutrophils fromperipheralblood	blood
21	chr6:13288200-13295400	Weak transcription	Fetal Heart	heart
22	chr6:13288200-13296400	Strong transcription	GM12878-XiMat	blood
23	chr6:13288400-13293200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr6:13288400-13294200	Weak transcription	Osteobl	bone
25	chr6:13288400-13294800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr6:13288400-13302600	Weak transcription	Hela-S3	cervix
27	chr6:13288400-13302800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr6:13288600-13293800	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr6:13288600-13294200	Weak transcription	Esophagus	oesophagus
30	chr6:13288600-13295000	Strong transcription	Primary B cells from cord blood	blood
31	chr6:13288600-13295000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr6:13288600-13296400	Strong transcription	HUES6 Cell Line	embryonic stem cell
33	chr6:13288600-13302400	Strong transcription	Fetal Brain Female	brain
34	chr6:13288600-13302600	Strong transcription	Fetal Muscle Leg	muscle
35	chr6:13288600-13321000	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr6:13288600-13326400	Strong transcription	Primary T cells from cord blood	blood
37	chr6:13288800-13293000	Weak transcription	Fetal Lung	lung
38	chr6:13288800-13294200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
39	chr6:13289000-13295800	Strong transcription	Skeletal Muscle Female	skeletal muscle
40	chr6:13289000-13299800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr6:13289200-13294000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr6:13289200-13294200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr6:13289400-13292800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr6:13289400-13293000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr6:13289600-13292600	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr6:13289600-13292800	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr6:13289600-13294600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr6:13289800-13293000	Weak transcription	Pancreas	Pancrea
49	chr6:13289800-13327000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr6:13290200-13302800	Weak transcription	NHEK	skin

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