Variant report

Variant	rs6447859
Chromosome Location	chr4:8318609-8318610
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	ZBTB7A	chr4:8317438-8318641	ECC-1	luminal epithelium:	n/a	n/a
2	TCF12	chr4:8317063-8318615	ECC-1	luminal epithelium:	n/a	n/a
3	ZBTB7A	chr4:8317422-8318615	ECC-1	luminal epithelium:	n/a	n/a
4	TCF12	chr4:8317115-8318613	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:8315694..8318647-chr4:8336893..8339393,2	K562	blood:
2	chr4:8312041..8314245-chr4:8317234..8319161,2	K562	blood:

Variant related genes	Relation type
ENSG00000249145	TF binding region
ENSG00000248986	TF binding region

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

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs4235265	0.81[EUR][1000 genomes]
rs4404528	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4696809	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4696812	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs59072166	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002794	chr4:8110083-8490934	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv878595	chr4:8154534-8390646	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS 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	25 gene(s)	inside rSNPs	diseases
3	nsv829853	chr4:8172065-8320868	Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv878601	chr4:8214767-8440951	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv878602	chr4:8214767-8448992	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv1009011	chr4:8225669-8424831	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv461218	chr4:8254784-8320126	Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	11 gene(s)	inside rSNPs	diseases
8	nsv593628	chr4:8254784-8320126	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	11 gene(s)	inside rSNPs	diseases
9	nsv470013	chr4:8315938-8377058	Enhancers ZNF genes & repeats Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv878604	chr4:8315938-8618916	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8311800-8320800	Weak transcription	Psoas Muscle	Psoas
2	chr4:8316400-8318800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr4:8316600-8319000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr4:8316600-8319000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
5	chr4:8316600-8319200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr4:8316600-8321000	Enhancers	Fetal Heart	heart
7	chr4:8316800-8318800	Enhancers	Fetal Muscle Leg	muscle
8	chr4:8316800-8318800	Enhancers	Thymus	Thymus
9	chr4:8316800-8319000	Enhancers	Ovary	ovary
10	chr4:8316800-8319200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr4:8316800-8319200	Enhancers	Fetal Thymus	thymus
12	chr4:8316800-8319400	Enhancers	Placenta Amnion	Placenta Amnion
13	chr4:8317000-8318800	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr4:8317000-8319000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr4:8317200-8318800	Enhancers	H1 Cell Line	embryonic stem cell
16	chr4:8317200-8318800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr4:8317200-8319000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr4:8317400-8318800	Enhancers	Brain Germinal Matrix	brain
19	chr4:8317400-8318800	Enhancers	HUVEC	blood vessel
20	chr4:8317400-8319000	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr4:8317400-8319000	Enhancers	HSMMtube	muscle
22	chr4:8317600-8322800	Weak transcription	Fetal Kidney	kidney
23	chr4:8317600-8323000	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr4:8317800-8319000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr4:8317800-8319000	Enhancers	HSMM	muscle
26	chr4:8317800-8319200	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr4:8317800-8319400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr4:8317800-8326200	Enhancers	Primary neutrophils fromperipheralblood	blood
29	chr4:8318000-8318800	Enhancers	A549	lung
30	chr4:8318000-8319000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr4:8318000-8319000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr4:8318000-8319000	Enhancers	Stomach Smooth Muscle	stomach
33	chr4:8318000-8320600	Weak transcription	Right Atrium	heart
34	chr4:8318000-8321000	Weak transcription	Adipose Nuclei	Adipose
35	chr4:8318000-8321400	Weak transcription	Fetal Lung	lung
36	chr4:8318000-8321800	Weak transcription	Esophagus	oesophagus
37	chr4:8318000-8322000	Weak transcription	Spleen	Spleen
38	chr4:8318200-8318800	Enhancers	Hela-S3	cervix
39	chr4:8318200-8319200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr4:8318200-8320600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr4:8318200-8320800	Weak transcription	Colon Smooth Muscle	Colon
42	chr4:8318200-8320800	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr4:8318200-8320800	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr4:8318200-8321000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr4:8318200-8321000	Weak transcription	Rectal Smooth Muscle	rectum
46	chr4:8318200-8321200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr4:8318200-8321200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr4:8318200-8321200	Weak transcription	NHDF-Ad	bronchial
49	chr4:8318200-8321400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr4:8318200-8321800	Weak transcription	Duodenum Smooth Muscle	Duodenum

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