Variant report

Variant	rs6818964
Chromosome Location	chr4:73970464-73970465
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	chr4:73969522-73970986	A549	lung:	n/a	n/a
2	POLR2A	chr4:73970315-73971289	GM12878	blood:	n/a	n/a
3	POLR2A	chr4:73966349-73978302	K562	blood:	n/a	n/a
4	POLR2A	chr4:73969297-73972164	HepG2	liver:	n/a	n/a
5	ARID3A	chr4:73969631-73970650	HepG2	liver:	n/a	n/a
6	MAX	chr4:73969648-73970467	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:73970416..73972051-chr4:73992057..73994179,2	MCF-7	breast:
2	chr4:73967876..73970558-chr4:74123013..74124947,2	MCF-7	breast:
3	chr4:73968348..73971622-chr4:74123384..74126959,3	MCF-7	breast:

Variant related genes	Relation type
ANKRD17	TF binding region
ENSG00000250220	Chromatin interaction
ENSG00000132466	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs62311895	0.82[EUR][1000 genomes]
rs6824334	0.82[YRI][hapmap]
rs72861836	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949371	chr4:73678470-74094500	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer 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
2	nsv432611	chr4:73740665-74099265	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer 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
3	nsv523169	chr4:73752242-74120910	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv998707	chr4:73753922-74044843	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv537136	chr4:73753922-74044843	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv917017	chr4:73754127-74044830	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
7	nsv1013174	chr4:73785324-74031884	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
8	nsv537137	chr4:73785324-74031884	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
9	nsv1012068	chr4:73817769-74003079	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
10	nsv1014088	chr4:73817769-74031884	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
11	nsv537138	chr4:73817769-74031884	Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
12	nsv533502	chr4:73819067-74044813	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
13	esv1849323	chr4:73926670-74115116	Strong transcription Active TSS ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
14	nsv1000509	chr4:73968978-74206949	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Smooth-surface caries	24556642	GWAS catalog

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:73936200-73980000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr4:73938800-74005200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr4:73939000-74005000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr4:73940400-74043400	Strong transcription	Fetal Thymus	thymus
5	chr4:73949200-73988200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr4:73950600-74004200	Strong transcription	HSMM	muscle
7	chr4:73952800-73992400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
8	chr4:73952800-74023000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr4:73954600-73992200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr4:73954600-73995400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr4:73955200-73972800	Strong transcription	Placenta	Placenta
12	chr4:73955200-73991400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr4:73955200-73991600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr4:73955800-74019000	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr4:73955800-74022400	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr4:73956000-73995600	Strong transcription	Primary T helper cells fromperipheralblood	blood
17	chr4:73957600-73973600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr4:73957600-73985200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr4:73957800-73978800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr4:73957800-73984200	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr4:73958200-73974400	Weak transcription	Colon Smooth Muscle	Colon
22	chr4:73958400-73979200	Weak transcription	Hela-S3	cervix
23	chr4:73958600-73978800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr4:73959000-73976400	Strong transcription	Adipose Nuclei	Adipose
25	chr4:73959600-73977200	Strong transcription	NH-A	brain
26	chr4:73962800-73978800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr4:73962800-73980000	Strong transcription	Primary T cells from cord blood	blood
28	chr4:73964200-73973400	Weak transcription	Brain Angular Gyrus	brain
29	chr4:73964200-73974000	Weak transcription	Fetal Brain Male	brain
30	chr4:73964600-73985200	Weak transcription	Fetal Heart	heart
31	chr4:73965800-73974000	Weak transcription	Brain Substantia Nigra	brain
32	chr4:73966000-73972200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr4:73966000-73974200	Weak transcription	Ovary	ovary
34	chr4:73966000-73974400	Weak transcription	Aorta	Aorta
35	chr4:73966000-74005200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr4:73966000-74016800	Weak transcription	Psoas Muscle	Psoas
37	chr4:73966200-73974200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr4:73966200-73989200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr4:73966400-73974000	Weak transcription	Brain Hippocampus Middle	brain
40	chr4:73966600-73989800	Weak transcription	Colonic Mucosa	Colon
41	chr4:73967000-73973800	Weak transcription	NHLF	lung
42	chr4:73967000-73974200	Weak transcription	Rectal Smooth Muscle	rectum
43	chr4:73967000-73980600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr4:73967200-73972200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr4:73967200-73972200	Weak transcription	Brain Anterior Caudate	brain
46	chr4:73967200-73984200	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr4:73967400-73972200	Weak transcription	Primary B cells from cord blood	blood
48	chr4:73967400-73974600	Weak transcription	Gastric	stomach
49	chr4:73967800-73972200	Weak transcription	Fetal Brain Female	brain
50	chr4:73967800-73974400	Weak transcription	Right Ventricle	heart

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