Variant report

Variant	rs2306059
Chromosome Location	chr4:73942731-73942732
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:73935991..73938243-chr4:73939866..73943028,3	MCF-7	breast:
2	chr4:73940513..73943013-chr4:73945209..73948913,3	K562	blood:
3	chr4:73942372..73944907-chr4:74122062..74125195,3	K562	blood:
4	chr4:73941381..73942945-chr4:73944463..73946104,2	K562	blood:

Variant related genes	Relation type
ENSG00000250220	Chromatin interaction
ENSG00000132466	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11935289	1.00[CEU][hapmap]
rs13110675	1.00[CHD][hapmap]
rs17880982	1.00[LWK][hapmap]
rs2137445	1.00[LWK][hapmap]
rs35591466	1.00[CHD][hapmap]
rs35631423	1.00[CHD][hapmap]
rs4475118	1.00[TSI][hapmap]
rs4574377	1.00[CEU][hapmap];1.00[CHD][hapmap]
rs7694865	1.00[CEU][hapmap];1.00[CHD][hapmap]

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	chr4:73935600-73943600	Weak transcription	Spleen	Spleen
2	chr4:73935800-73943600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr4:73936000-73956400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr4:73936000-73956400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr4:73936000-73956400	Weak transcription	Aorta	Aorta
6	chr4:73936000-73956400	Weak transcription	Esophagus	oesophagus
7	chr4:73936000-73956400	Weak transcription	Gastric	stomach
8	chr4:73936000-73956400	Weak transcription	Pancreas	Pancrea
9	chr4:73936000-73956800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr4:73936000-73969600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr4:73936200-73946000	Weak transcription	Fetal Heart	heart
12	chr4:73936200-73950000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr4:73936200-73951800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr4:73936200-73956400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr4:73936200-73956600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr4:73936200-73980000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr4:73936400-73951800	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr4:73936400-73952000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr4:73936400-73970000	Weak transcription	Stomach Mucosa	stomach
20	chr4:73937200-73946000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr4:73937400-73945600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr4:73937600-73945400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr4:73937600-73951400	Strong transcription	Placenta	Placenta
24	chr4:73937800-73946400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr4:73938000-73945000	Strong transcription	NH-A	brain
26	chr4:73938000-73945600	Strong transcription	GM12878-XiMat	blood
27	chr4:73938400-73949000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr4:73938600-73945200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr4:73938600-73946600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr4:73938600-73946600	Strong transcription	Liver	Liver
31	chr4:73938600-73951200	Strong transcription	Primary monocytes fromperipheralblood	blood
32	chr4:73938600-73953600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr4:73938800-73944600	Strong transcription	NHDF-Ad	bronchial
34	chr4:73938800-73945600	Strong transcription	Osteobl	bone
35	chr4:73938800-73954800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
36	chr4:73938800-74005200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr4:73939000-73969600	Strong transcription	HUES64 Cell Line	embryonic stem cell
38	chr4:73939000-74005000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr4:73939200-73945600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr4:73939200-73950000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr4:73939200-73951200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr4:73939200-73951200	Strong transcription	Monocytes-CD14+_RO01746	blood
43	chr4:73939400-73953000	Strong transcription	Dnd41	blood
44	chr4:73939400-73955200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr4:73939400-73970000	Strong transcription	HUES48 Cell Line	embryonic stem cell
46	chr4:73939600-73943600	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr4:73939600-73944800	Strong transcription	HUVEC	blood vessel
48	chr4:73940000-73944800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr4:73940400-73943200	Strong transcription	NHLF	lung
50	chr4:73940400-73944800	Strong transcription	Primary T helper cells PMA-I stimulated	--

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