Variant report

Variant	rs6814083
Chromosome Location	chr4:55523061-55523062
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	CCNT2	chr4:55522957-55523093	K562	blood:	n/a	n/a
2	POLR2A	chr4:55522933-55528781	PBDE	blood:	n/a	n/a

Variant related genes	Relation type
KIT	TF binding region

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs17084614	1.00[AMR][1000 genomes]
rs17084661	1.00[AMR][1000 genomes]
rs17084684	0.85[AMR][1000 genomes]
rs55643815	1.00[AMR][1000 genomes]
rs55703521	1.00[AMR][1000 genomes]
rs56037117	1.00[AMR][1000 genomes]
rs58709258	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs6835928	1.00[AMR][1000 genomes]
rs72550821	1.00[AMR][1000 genomes]
rs73134083	1.00[AMR][1000 genomes]
rs73135814	1.00[AMR][1000 genomes]
rs73818384	0.87[AMR][1000 genomes]
rs73818386	1.00[AMR][1000 genomes]
rs73818390	0.85[AMR][1000 genomes]
rs7697550	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9683978	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008793	chr4:55060925-55535807	Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv537098	chr4:55060925-55535807	Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv999400	chr4:55143598-55776995	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv997430	chr4:55253397-55529288	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	esv3367952	chr4:55437113-55724644	Bivalent/Poised TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
6	nsv1010702	chr4:55440944-55528450	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	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

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:55522800-55523400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr4:55523000-55523200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr4:55523000-55523200	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
4	chr4:55523000-55523200	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
5	chr4:55523000-55523200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr4:55523000-55523200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr4:55523000-55523200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr4:55523000-55523400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
9	chr4:55523000-55523400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
10	chr4:55523000-55523400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
11	chr4:55523000-55523400	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr4:55523000-55523400	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
13	chr4:55523000-55523400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr4:55523000-55523400	Flanking Active TSS	Brain Anterior Caudate	brain
15	chr4:55523000-55523400	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
16	chr4:55523000-55523600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
17	chr4:55523000-55524600	Flanking Active TSS	Primary hematopoietic stem cells	blood
18	chr4:55523000-55525600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
19	chr4:55523000-55525800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
20	chr4:55523000-55526200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
21	chr4:55523000-55528600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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