Variant report

Variant	rs6847295
Chromosome Location	chr4:55807287-55807288
allele	A/C
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	chr4:55807276-55807752	SK-N-MC	brain:	n/a	n/a

Variant related genes	Relation type
ENSG00000248317	TF binding region

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

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs3893245	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6838962	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6855577	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526344	chr4:55522488-56231119	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv948758	chr4:55748430-55887962	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	esv1010982	chr4:55802123-55808403	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:55796800-55810200	Weak transcription	Fetal Muscle Leg	muscle
2	chr4:55802600-55807600	Weak transcription	Fetal Stomach	stomach
3	chr4:55802600-55808200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr4:55804000-55808200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr4:55804200-55808800	Weak transcription	Stomach Mucosa	stomach
6	chr4:55804200-55811200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr4:55804400-55808000	Weak transcription	NH-A	brain
8	chr4:55805600-55807600	Enhancers	Primary hematopoietic stem cells	blood
9	chr4:55805800-55807600	Enhancers	HUVEC	blood vessel
10	chr4:55806000-55807400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr4:55806000-55809600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
12	chr4:55806000-55809800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr4:55806200-55808000	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr4:55806200-55810000	Enhancers	Primary T cells fromperipheralblood	blood
15	chr4:55806400-55808000	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr4:55806400-55808000	Enhancers	Primary T killer memory cells from peripheral blood	blood
17	chr4:55806400-55808600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr4:55806400-55809600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr4:55806800-55807800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr4:55806800-55808200	Enhancers	Fetal Lung	lung
21	chr4:55806800-55808400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
22	chr4:55806800-55808400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
23	chr4:55806800-55808600	Flanking Active TSS	Primary T cells from cord blood	blood
24	chr4:55806800-55808600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr4:55806800-55809000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr4:55806800-55809200	Enhancers	Thymus	Thymus
27	chr4:55806800-55809600	Enhancers	Primary B cells from peripheral blood	blood
28	chr4:55806800-55812600	Enhancers	Fetal Thymus	thymus
29	chr4:55807000-55807600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr4:55807200-55807400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
31	chr4:55807200-55807400	Enhancers	Stomach Smooth Muscle	stomach
32	chr4:55807200-55807600	Enhancers	Primary B cells from cord blood	blood
33	chr4:55807200-55808000	Enhancers	Fetal Brain Male	brain
34	chr4:55807200-55808400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
35	chr4:55807200-55810400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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