Variant report

Variant	rs4150060
Chromosome Location	chr4:78080963-78080964
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:77993925..77999822-chr4:78072652..78081114,32	MCF-7	breast:
2	chr4:77994107..77999899-chr4:78076204..78082875,32	MCF-7	breast:
3	chr4:78079940..78081963-chr4:78084829..78086781,2	K562	blood:
4	chr4:78053146..78055280-chr4:78080345..78082890,2	K562	blood:
5	chr4:77994543..78000148-chr4:78076403..78082799,9	K562	blood:

Variant related genes	Relation type
ENSG00000118816	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10006360	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10010725	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs10014391	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10017796	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10017878	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10022252	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10027894	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10518167	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs11943130	1.00[CHD][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs17002416	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17002418	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17393572	1.00[JPT][hapmap]
rs2306410	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28367533	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28373623	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28416544	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28470363	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28526402	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28693444	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28697073	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28718050	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4150092	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4150099	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4150103	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4293811	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58288213	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs58507229	0.93[AMR][1000 genomes]
rs58529735	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59124751	0.81[ASN][1000 genomes]
rs59757896	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs60714814	0.98[ASN][1000 genomes]
rs6822800	1.00[JPT][hapmap]
rs6823048	0.92[CHD][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap]
rs6848898	1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs6851055	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6852578	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72861687	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72861692	0.81[ASN][1000 genomes]
rs72861694	0.81[ASN][1000 genomes]
rs72863250	0.81[ASN][1000 genomes]
rs9307246	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9654188	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9654189	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9654190	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9995778	0.98[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv879500	chr4:78045960-78115334	Genic enhancers Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 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	chr4:78077400-78081000	Active TSS	Fetal Brain Female	brain
2	chr4:78077800-78081600	Active TSS	HSMM	muscle
3	chr4:78078600-78081200	Transcr. at gene 5' and 3'	Dnd41	blood
4	chr4:78079400-78082000	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr4:78079600-78081200	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr4:78079600-78081200	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
7	chr4:78079600-78081200	Transcr. at gene 5' and 3'	NHEK	skin
8	chr4:78079600-78082000	Transcr. at gene 5' and 3'	Fetal Intestine Large	intestine
9	chr4:78079600-78082000	Transcr. at gene 5' and 3'	HMEC	breast
10	chr4:78079800-78081200	Transcr. at gene 5' and 3'	Primary B cells from cord blood	blood
11	chr4:78079800-78081200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
12	chr4:78079800-78081800	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr4:78079800-78082400	Weak transcription	Pancreas	Pancrea
14	chr4:78079800-78083000	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr4:78079800-78083000	Weak transcription	Spleen	Spleen
16	chr4:78079800-78083800	Weak transcription	Left Ventricle	heart
17	chr4:78079800-78086000	Weak transcription	Stomach Mucosa	stomach
18	chr4:78080000-78081200	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr4:78080000-78081200	Genic enhancers	Brain Anterior Caudate	brain
20	chr4:78080000-78081200	Enhancers	Fetal Heart	heart
21	chr4:78080000-78081800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr4:78080000-78081800	Weak transcription	Rectal Smooth Muscle	rectum
23	chr4:78080000-78081800	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr4:78080000-78082000	Weak transcription	Liver	Liver
25	chr4:78080000-78082200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr4:78080000-78082400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr4:78080000-78082400	Weak transcription	Gastric	stomach
28	chr4:78080000-78083000	Weak transcription	Brain Angular Gyrus	brain
29	chr4:78080000-78083000	Weak transcription	Colonic Mucosa	Colon
30	chr4:78080000-78083600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr4:78080000-78083600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr4:78080000-78084400	Weak transcription	Ovary	ovary
33	chr4:78080000-78085000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr4:78080000-78085200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr4:78080000-78086800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr4:78080000-78087400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr4:78080000-78089800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
38	chr4:78080000-78092800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr4:78080000-78093400	Weak transcription	Right Ventricle	heart
40	chr4:78080200-78081000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr4:78080200-78081000	Weak transcription	Esophagus	oesophagus
42	chr4:78080200-78081000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr4:78080200-78081000	Active TSS	Fetal Muscle Leg	muscle
44	chr4:78080200-78081000	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr4:78080200-78081000	Enhancers	Hela-S3	cervix
46	chr4:78080200-78081200	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
47	chr4:78080200-78081200	Genic enhancers	Fetal Muscle Trunk	muscle
48	chr4:78080200-78081200	Genic enhancers	Monocytes-CD14+_RO01746	blood
49	chr4:78080200-78081200	Genic enhancers	NH-A	brain
50	chr4:78080200-78081600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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