Variant report

Variant	rs55679019
Chromosome Location	chr6:149913313-149913314
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	chr6:149912563-149913463	K562	blood:	n/a	n/a
2	POLR2A	chr6:149913130-149913316	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:149910172..149914647-chr6:149914735..149918392,5	K562	blood:

Variant related genes	Relation type
RPS18P9	TF binding region
ENSG00000202343	TF binding region
ENSG00000202343	Chromatin interaction
ENSG00000220848	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs2343263	1.00[AFR][1000 genomes]
rs56095145	1.00[AFR][1000 genomes]
rs56196636	0.86[AFR][1000 genomes]
rs56661428	1.00[AFR][1000 genomes]
rs57679254	1.00[AFR][1000 genomes]
rs58277211	1.00[AFR][1000 genomes]
rs58319496	0.86[AFR][1000 genomes]
rs58735783	1.00[AFR][1000 genomes]
rs58933940	1.00[AFR][1000 genomes]
rs59528999	1.00[AFR][1000 genomes]
rs59644096	1.00[AFR][1000 genomes]
rs60539437	1.00[AFR][1000 genomes]
rs60596573	1.00[AFR][1000 genomes]
rs60909651	1.00[AFR][1000 genomes]
rs61528805	1.00[AFR][1000 genomes]
rs73779509	1.00[AFR][1000 genomes]
rs73779511	1.00[AFR][1000 genomes]
rs73779512	1.00[AFR][1000 genomes]
rs73779515	1.00[AFR][1000 genomes]
rs73779534	1.00[AFR][1000 genomes]
rs73779537	1.00[AFR][1000 genomes]
rs73779540	1.00[AFR][1000 genomes]
rs73779542	1.00[AFR][1000 genomes]
rs73779543	1.00[AFR][1000 genomes]
rs73779545	1.00[AFR][1000 genomes]
rs73779548	1.00[AFR][1000 genomes]
rs73779555	1.00[AFR][1000 genomes]
rs73779556	1.00[AFR][1000 genomes]
rs73779560	1.00[AFR][1000 genomes]
rs73779564	1.00[AFR][1000 genomes]
rs73779567	1.00[AFR][1000 genomes]
rs73781237	1.00[AFR][1000 genomes]
rs73781239	1.00[AFR][1000 genomes]
rs73781243	1.00[AFR][1000 genomes]
rs73781249	0.86[AFR][1000 genomes]
rs73781250	1.00[AFR][1000 genomes]
rs73781251	1.00[AFR][1000 genomes]
rs73781252	1.00[AFR][1000 genomes]
rs73781278	1.00[AFR][1000 genomes]
rs73781279	1.00[AFR][1000 genomes]
rs73781280	1.00[AFR][1000 genomes]
rs73781281	0.86[AFR][1000 genomes]
rs73781282	1.00[AFR][1000 genomes]
rs73781283	1.00[AFR][1000 genomes]
rs73781284	1.00[AFR][1000 genomes]
rs73781287	1.00[AFR][1000 genomes]
rs73781288	1.00[AFR][1000 genomes]
rs73781290	1.00[AFR][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	nsv289	chr6:149864898-149998818	Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv5534	chr6:149864898-149998818	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers 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	21 gene(s)	inside rSNPs	diseases
3	nsv886762	chr6:149866452-150174507	Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	esv1794633	chr6:149903597-149944908	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	esv1792620	chr6:149909491-150083621	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:149888600-149922000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr6:149888800-149914800	Weak transcription	A549	lung
3	chr6:149889000-149928000	Weak transcription	Stomach Mucosa	stomach
4	chr6:149889200-149919600	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr6:149889400-149924200	Weak transcription	Fetal Heart	heart
6	chr6:149889600-149914200	Weak transcription	Hela-S3	cervix
7	chr6:149889600-149931400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr6:149893800-149926600	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr6:149894200-149920000	Strong transcription	Primary T helper cells fromperipheralblood	blood
10	chr6:149895600-149923200	Strong transcription	Dnd41	blood
11	chr6:149898400-149919200	Strong transcription	HUES64 Cell Line	embryonic stem cell
12	chr6:149898600-149927400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr6:149898800-149913800	Weak transcription	Right Ventricle	heart
14	chr6:149899200-149915000	Weak transcription	Esophagus	oesophagus
15	chr6:149899200-149929800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr6:149900200-149926800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr6:149900400-149923200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr6:149901000-149919200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr6:149901000-149920200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr6:149901000-149923200	Strong transcription	Primary T cells fromperipheralblood	blood
21	chr6:149901000-149923200	Strong transcription	Rectal Mucosa Donor 29	rectum
22	chr6:149901200-149920000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr6:149901600-149919800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr6:149901800-149919400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr6:149902200-149915200	Weak transcription	HMEC	breast
26	chr6:149902200-149920200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr6:149902800-149929000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr6:149903200-149914200	Weak transcription	NHEK	skin
29	chr6:149903200-149915000	Weak transcription	Gastric	stomach
30	chr6:149903800-149914200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr6:149903800-149914200	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr6:149903800-149924200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr6:149904200-149914200	Weak transcription	Fetal Kidney	kidney
34	chr6:149904400-149914000	Weak transcription	Colonic Mucosa	Colon
35	chr6:149905200-149913400	Strong transcription	Fetal Brain Female	brain
36	chr6:149905200-149926200	Strong transcription	Fetal Stomach	stomach
37	chr6:149905400-149919400	Strong transcription	Left Ventricle	heart
38	chr6:149905400-149920000	Strong transcription	HUES6 Cell Line	embryonic stem cell
39	chr6:149906000-149918800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr6:149906800-149922800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
41	chr6:149907000-149919600	Strong transcription	Primary T helper cells PMA-I stimulated	--
42	chr6:149907000-149925800	Strong transcription	Fetal Thymus	thymus
43	chr6:149907400-149916400	Strong transcription	Stomach Smooth Muscle	stomach
44	chr6:149907400-149918000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr6:149907600-149925800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr6:149909000-149914000	Weak transcription	Thymus	Thymus
47	chr6:149909000-149914200	Weak transcription	NHLF	lung
48	chr6:149909000-149914800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr6:149909000-149915000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr6:149909000-149915000	Weak transcription	H9 Cell Line	embryonic stem cell

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