Variant report

Variant	rs10050235
Chromosome Location	chr4:73988492-73988493
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:73986801..73989424-chr4:74123893..74125753,3	MCF-7	breast:
2	chr4:73986794..73988669-chr4:73995827..73997512,2	MCF-7	breast:
3	chr4:73987394..73990330-chr4:73992247..73994204,2	K562	blood:
4	chr4:73986248..73988624-chr4:74122719..74124511,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000132466	Chromatin interaction
ENSG00000250220	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10006547	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10034689	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];0.80[YRI][hapmap];0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10035001	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.92[MEX][hapmap];0.98[TSI][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10805059	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11724514	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.92[MEX][hapmap];0.98[TSI][hapmap]
rs11736349	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.92[MEX][hapmap];0.95[TSI][hapmap]
rs11935070	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap]
rs13101277	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.92[MEX][hapmap];0.98[TSI][hapmap];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13149759	0.80[JPT][hapmap]
rs1534450	0.96[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4072	0.96[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap]
rs4437217	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4694155	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.80[YRI][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4694156	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4995246	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];0.91[JPT][hapmap];0.85[LWK][hapmap];0.96[MEX][hapmap];0.98[TSI][hapmap];0.86[ASN][1000 genomes]
rs5020219	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6830954	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6850870	1.00[CEU][hapmap];0.86[CHB][hapmap];0.91[JPT][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9291182	1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.94[GIH][hapmap];0.95[JPT][hapmap];0.92[MEX][hapmap];0.95[TSI][hapmap]

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

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:73938800-74005200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr4:73939000-74005000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr4:73940400-74043400	Strong transcription	Fetal Thymus	thymus
4	chr4:73950600-74004200	Strong transcription	HSMM	muscle
5	chr4:73952800-73992400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
6	chr4:73952800-74023000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr4:73954600-73992200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr4:73954600-73995400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr4:73955200-73991400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr4:73955200-73991600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr4:73955800-74019000	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr4:73955800-74022400	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr4:73956000-73995600	Strong transcription	Primary T helper cells fromperipheralblood	blood
14	chr4:73966000-74005200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr4:73966000-74016800	Weak transcription	Psoas Muscle	Psoas
16	chr4:73966200-73989200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr4:73966600-73989800	Weak transcription	Colonic Mucosa	Colon
18	chr4:73968000-74005200	Weak transcription	Esophagus	oesophagus
19	chr4:73969200-74030200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr4:73969600-73994000	Strong transcription	Osteobl	bone
21	chr4:73969600-74020000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr4:73969800-73992800	Strong transcription	Primary T cells fromperipheralblood	blood
23	chr4:73970200-73992400	Strong transcription	Fetal Intestine Large	intestine
24	chr4:73970200-74005000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr4:73970200-74005200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr4:73970200-74005200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr4:73970600-73992400	Strong transcription	Rectal Mucosa Donor 31	rectum
28	chr4:73970800-74005200	Weak transcription	Small Intestine	intestine
29	chr4:73970800-74040800	Weak transcription	Stomach Mucosa	stomach
30	chr4:73971000-73994200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
31	chr4:73971200-74020000	Strong transcription	Dnd41	blood
32	chr4:73971600-73992200	Strong transcription	Duodenum Mucosa	Duodenum
33	chr4:73971600-73993400	Strong transcription	HUES6 Cell Line	embryonic stem cell
34	chr4:73971600-74005200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr4:73971800-73992200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr4:73971800-74022600	Strong transcription	Liver	Liver
37	chr4:73971800-74032200	Strong transcription	HUES64 Cell Line	embryonic stem cell
38	chr4:73972200-73991000	Strong transcription	Primary B cells from cord blood	blood
39	chr4:73973400-73993600	Strong transcription	HUES48 Cell Line	embryonic stem cell
40	chr4:73973800-73992400	Strong transcription	Placenta	Placenta
41	chr4:73975000-74005200	Weak transcription	Aorta	Aorta
42	chr4:73975400-74005200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr4:73975400-74005200	Weak transcription	Right Ventricle	heart
44	chr4:73977000-73988600	Strong transcription	K562	blood
45	chr4:73977000-73992200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr4:73977000-73992400	Strong transcription	HepG2	liver
47	chr4:73977000-73992800	Strong transcription	Rectal Mucosa Donor 29	rectum
48	chr4:73977000-73995600	Strong transcription	Primary B cells from peripheral blood	blood
49	chr4:73977600-73992200	Strong transcription	NHDF-Ad	bronchial
50	chr4:73977600-73992400	Strong transcription	Adipose Nuclei	Adipose

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