Variant report

Variant	rs7664144
Chromosome Location	chr4:73949431-73949432
allele	A/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	chr4:73949321-73949438	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:73936677..73938384-chr4:73949086..73951133,2	K562	blood:
2	chr4:73933733..73940261-chr4:73944971..73951272,10	K562	blood:
3	chr4:73946540..73955069-chr4:73955536..73964230,11	K562	blood:

Variant related genes	Relation type
ANKRD17	TF binding region
ENSG00000163626	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10011483	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10019296	1.00[YRI][hapmap];0.82[AMR][1000 genomes]
rs10028486	0.80[YRI][hapmap]
rs10034689	0.81[LWK][hapmap]
rs10805059	0.80[YRI][hapmap]
rs2306057	0.83[LWK][hapmap];0.83[YRI][hapmap]
rs28709646	0.85[LWK][hapmap];0.83[YRI][hapmap]
rs4995246	0.81[LWK][hapmap]
rs7657840	1.00[MEX][hapmap]
rs7679277	0.80[YRI][hapmap]
rs9997697	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:73936000-73956400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:73936000-73956400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr4:73936000-73956400	Weak transcription	Aorta	Aorta
4	chr4:73936000-73956400	Weak transcription	Esophagus	oesophagus
5	chr4:73936000-73956400	Weak transcription	Gastric	stomach
6	chr4:73936000-73956400	Weak transcription	Pancreas	Pancrea
7	chr4:73936000-73956800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr4:73936000-73969600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr4:73936200-73950000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr4:73936200-73951800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr4:73936200-73956400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr4:73936200-73956600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr4:73936200-73980000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr4:73936400-73951800	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr4:73936400-73952000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr4:73936400-73970000	Weak transcription	Stomach Mucosa	stomach
17	chr4:73937600-73951400	Strong transcription	Placenta	Placenta
18	chr4:73938600-73951200	Strong transcription	Primary monocytes fromperipheralblood	blood
19	chr4:73938600-73953600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr4:73938800-73954800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
21	chr4:73938800-74005200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr4:73939000-73969600	Strong transcription	HUES64 Cell Line	embryonic stem cell
23	chr4:73939000-74005000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr4:73939200-73950000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr4:73939200-73951200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr4:73939200-73951200	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr4:73939400-73953000	Strong transcription	Dnd41	blood
28	chr4:73939400-73955200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr4:73939400-73970000	Strong transcription	HUES48 Cell Line	embryonic stem cell
30	chr4:73940400-73950800	Strong transcription	Primary T cells fromperipheralblood	blood
31	chr4:73940400-73951200	Strong transcription	Rectal Mucosa Donor 29	rectum
32	chr4:73940400-74043400	Strong transcription	Fetal Thymus	thymus
33	chr4:73940600-73950000	Strong transcription	Duodenum Smooth Muscle	Duodenum
34	chr4:73940600-73950800	Strong transcription	Primary T helper cells fromperipheralblood	blood
35	chr4:73940600-73951200	Strong transcription	Primary B cells from peripheral blood	blood
36	chr4:73940600-73951200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr4:73940600-73951600	Strong transcription	HepG2	liver
38	chr4:73940600-73951800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
39	chr4:73941800-73956600	Weak transcription	HMEC	breast
40	chr4:73942000-73956400	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr4:73942600-73956400	Weak transcription	Small Intestine	intestine
42	chr4:73942800-73956400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr4:73942800-73956800	Weak transcription	Colonic Mucosa	Colon
44	chr4:73943000-73950400	Weak transcription	Primary hematopoietic stem cells	blood
45	chr4:73943000-73956400	Weak transcription	Fetal Brain Male	brain
46	chr4:73943200-73951400	Weak transcription	Ovary	ovary
47	chr4:73943200-73953600	Weak transcription	Brain Substantia Nigra	brain
48	chr4:73943200-73953800	Weak transcription	Brain Cingulate Gyrus	brain
49	chr4:73943200-73956000	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr4:73943200-73956200	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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