Variant report

Variant	rs10006547
Chromosome Location	chr4:73967240-73967241
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:73934483..73937170-chr4:73967043..73968673,2	K562	blood:

Variant related genes	Relation type
ENSG00000163626	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10034689	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10035001	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10050235	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10805059	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13101277	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1534450	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4437217	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4694155	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4694156	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs5020219	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6830954	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6850870	0.93[EUR][1000 genomes];0.81[ASN][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	chr4:73936000-73969600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr4:73936200-73980000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr4:73936400-73970000	Weak transcription	Stomach Mucosa	stomach
4	chr4:73938800-74005200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr4:73939000-73969600	Strong transcription	HUES64 Cell Line	embryonic stem cell
6	chr4:73939000-74005000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr4:73939400-73970000	Strong transcription	HUES48 Cell Line	embryonic stem cell
8	chr4:73940400-74043400	Strong transcription	Fetal Thymus	thymus
9	chr4:73946800-73968000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
10	chr4:73949200-73988200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr4:73950600-74004200	Strong transcription	HSMM	muscle
12	chr4:73952800-73992400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
13	chr4:73952800-74023000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr4:73953000-73969800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr4:73954600-73968400	Strong transcription	Fetal Muscle Trunk	muscle
16	chr4:73954600-73992200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr4:73954600-73995400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr4:73955200-73972800	Strong transcription	Placenta	Placenta
19	chr4:73955200-73991400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr4:73955200-73991600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr4:73955400-73970400	Strong transcription	Dnd41	blood
22	chr4:73955600-73968200	Strong transcription	Osteobl	bone
23	chr4:73955800-73968600	Strong transcription	HUES6 Cell Line	embryonic stem cell
24	chr4:73955800-73969000	Strong transcription	Rectal Mucosa Donor 31	rectum
25	chr4:73955800-73969800	Strong transcription	Primary T helper cells PMA-I stimulated	--
26	chr4:73955800-74019000	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr4:73955800-74022400	Strong transcription	Primary monocytes fromperipheralblood	blood
28	chr4:73956000-73995600	Strong transcription	Primary T helper cells fromperipheralblood	blood
29	chr4:73956200-73968200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
30	chr4:73956200-73968200	Strong transcription	Primary T cells fromperipheralblood	blood
31	chr4:73956200-73968200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr4:73956200-73968200	Strong transcription	Liver	Liver
33	chr4:73956200-73968200	Strong transcription	Rectal Mucosa Donor 29	rectum
34	chr4:73956200-73968400	Strong transcription	Primary B cells from peripheral blood	blood
35	chr4:73956200-73968400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr4:73956200-73970200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
37	chr4:73956400-73968000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr4:73956400-73968000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr4:73956600-73968400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr4:73957000-73968400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr4:73957600-73973600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr4:73957600-73985200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr4:73957800-73978800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr4:73957800-73984200	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr4:73958200-73974400	Weak transcription	Colon Smooth Muscle	Colon
46	chr4:73958400-73979200	Weak transcription	Hela-S3	cervix
47	chr4:73958600-73978800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr4:73959000-73968400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr4:73959000-73976400	Strong transcription	Adipose Nuclei	Adipose
50	chr4:73959200-73968200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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