Variant report

Variant	rs6829950
Chromosome Location	chr4:55808625-55808626
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	chr4:55807925-55808651	HUVEC	blood vessel:	n/a	n/a
2	JUN	chr4:55807674-55809099	HUVEC	blood vessel:	n/a	chr4:55808972-55808979 chr4:55808967-55808978 chr4:55808971-55808979
3	POLR2A	chr4:55807948-55808699	HUVEC	blood vessel:	n/a	n/a
4	FOS	chr4:55807984-55808705	HUVEC	blood vessel:	n/a	n/a
5	POLR2A	chr4:55808168-55808658	HUVEC	blood vessel:	n/a	n/a
6	GATA2	chr4:55808052-55809135	HUVEC	blood vessel:	n/a	chr4:55808649-55808656 chr4:55808649-55808656 chr4:55808649-55808656 chr4:55808313-55808323 chr4:55808421-55808431

Variant related genes	Relation type
ENSG00000248317	TF binding region

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10024872	1.00[AMR][1000 genomes]
rs28452489	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56743302	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60295650	1.00[AMR][1000 genomes]
rs61185147	1.00[AMR][1000 genomes]
rs6829974	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73136549	1.00[AMR][1000 genomes]
rs9997422	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 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	esv3366988	chr4:55808045-55809893	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
4	esv2521332	chr4:55808162-55809636	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	inside rSNPs	diseases
5	esv1933088	chr4:55808491-55809113	Enhancers Active TSS Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	inside rSNPs	diseases
6	esv3500095	chr4:55808575-55809013	Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region	1 gene(s)	inside rSNPs	diseases
7	esv3500096	chr4:55808577-55809027	Flanking Active TSS Active TSS Weak transcription Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases
8	esv3465264	chr4:55808584-55808992	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region	1 gene(s)	inside rSNPs	diseases
9	esv3500093	chr4:55808600-55808950	Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	inside rSNPs	diseases
10	esv3465265	chr4:55808607-55808991	Weak transcription Enhancers Active TSS	TF binding region	1 gene(s)	inside rSNPs	diseases
11	esv3465262	chr4:55808619-55808946	Active TSS Enhancers Weak transcription	TF binding region	1 gene(s)	inside rSNPs	diseases
12	esv3500098	chr4:55808621-55808974	Weak transcription Enhancers Active TSS	TF binding region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:55796800-55810200	Weak transcription	Fetal Muscle Leg	muscle
2	chr4:55804200-55808800	Weak transcription	Stomach Mucosa	stomach
3	chr4:55804200-55811200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr4:55806000-55809600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
5	chr4:55806000-55809800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr4:55806200-55810000	Enhancers	Primary T cells fromperipheralblood	blood
7	chr4:55806400-55809600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr4:55806800-55809000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr4:55806800-55809200	Enhancers	Thymus	Thymus
10	chr4:55806800-55809600	Enhancers	Primary B cells from peripheral blood	blood
11	chr4:55806800-55812600	Enhancers	Fetal Thymus	thymus
12	chr4:55807200-55810400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr4:55807400-55809000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
14	chr4:55807600-55809000	Active TSS	Monocytes-CD14+_RO01746	blood
15	chr4:55807600-55809200	Enhancers	Brain Inferior Temporal Lobe	brain
16	chr4:55807600-55809200	Enhancers	Fetal Stomach	stomach
17	chr4:55807800-55809200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
18	chr4:55808000-55808800	Enhancers	Primary neutrophils fromperipheralblood	blood
19	chr4:55808200-55809000	Enhancers	Primary T helper naive cells from peripheral blood	blood
20	chr4:55808200-55809200	Active TSS	Primary T killer memory cells from peripheral blood	blood
21	chr4:55808200-55812600	Enhancers	HUVEC	blood vessel
22	chr4:55808400-55809000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr4:55808400-55809000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr4:55808400-55810000	Enhancers	Primary T helper cells fromperipheralblood	blood
25	chr4:55808400-55812000	Weak transcription	Adipose Nuclei	Adipose
26	chr4:55808400-55812600	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr4:55808400-55812600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
28	chr4:55808600-55809000	Active TSS	Primary monocytes fromperipheralblood	blood
29	chr4:55808600-55809000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr4:55808600-55809000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr4:55808600-55809200	Active TSS	Primary B cells from cord blood	blood
32	chr4:55808600-55809200	Active TSS	Primary hematopoietic stem cells	blood
33	chr4:55808600-55809200	Active TSS	Primary T regulatory cells fromperipheralblood	blood
34	chr4:55808600-55809800	Enhancers	Primary T helper cells PMA-I stimulated	--
35	chr4:55808600-55811000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr4:55808600-55813000	Enhancers	Primary T cells from cord blood	blood

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