Variant report

Variant	rs6535565
Chromosome Location	chr4:148782209-148782210
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10004850	0.95[EUR][1000 genomes]
rs10007231	0.99[EUR][1000 genomes]
rs10021936	0.99[EUR][1000 genomes]
rs10022691	0.99[EUR][1000 genomes]
rs10023057	0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10025684	0.99[EUR][1000 genomes]
rs10030513	0.99[EUR][1000 genomes]
rs1013842	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10461235	0.85[EUR][1000 genomes]
rs11099670	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11733409	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12498257	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12511313	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13129747	0.96[EUR][1000 genomes]
rs13148956	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13434396	0.99[EUR][1000 genomes]
rs1347596	0.89[EUR][1000 genomes]
rs1436489	0.89[EUR][1000 genomes]
rs1436490	0.91[EUR][1000 genomes]
rs1469865	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1469867	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17023995	0.99[EUR][1000 genomes]
rs28662484	0.91[EUR][1000 genomes]
rs35115631	0.96[EUR][1000 genomes]
rs35810358	0.94[AFR][1000 genomes]
rs4835101	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4835461	0.89[EUR][1000 genomes]
rs4835463	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4835464	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6839440	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6846526	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6846899	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6853296	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71616571	0.95[EUR][1000 genomes]
rs7654433	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7664567	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs893024	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028958	chr4:148377752-148793485	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv498083	chr4:148519825-148917583	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
3	nsv880243	chr4:148735644-148879583	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv880244	chr4:148764252-148920089	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv1029845	chr4:148766290-148916437	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv1030001	chr4:148773479-148916437	Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:148763200-148796200	Weak transcription	Monocytes-CD14+_RO01746	blood
2	chr4:148764400-148786000	Weak transcription	NH-A	brain
3	chr4:148764400-148787000	Weak transcription	NHEK	skin
4	chr4:148764600-148787800	Weak transcription	HMEC	breast
5	chr4:148766400-148787600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr4:148766600-148796200	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr4:148767600-148796400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr4:148768200-148782400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr4:148768400-148815600	Weak transcription	Primary T cells from cord blood	blood
10	chr4:148769600-148782600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr4:148770000-148782400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr4:148770400-148796200	Weak transcription	Fetal Kidney	kidney
13	chr4:148772000-148806000	Weak transcription	Fetal Thymus	thymus
14	chr4:148772400-148785800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr4:148772600-148782400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr4:148776400-148787200	Weak transcription	Brain Hippocampus Middle	brain
17	chr4:148777000-148796200	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr4:148777000-148823000	Weak transcription	Small Intestine	intestine
19	chr4:148777200-148782600	Weak transcription	Colon Smooth Muscle	Colon
20	chr4:148777200-148782600	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr4:148777200-148782800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr4:148777200-148784400	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr4:148777400-148796600	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr4:148777800-148782600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr4:148777800-148796200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr4:148778600-148787400	Weak transcription	Hela-S3	cervix
27	chr4:148779400-148783200	Weak transcription	Placenta	Placenta
28	chr4:148779400-148783200	Strong transcription	GM12878-XiMat	blood
29	chr4:148779400-148783400	Strong transcription	HSMM	muscle
30	chr4:148779600-148783400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr4:148779800-148793800	Weak transcription	Fetal Lung	lung
32	chr4:148780000-148782800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr4:148780400-148784400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr4:148781200-148782400	Weak transcription	Primary T cells fromperipheralblood	blood
35	chr4:148781200-148782600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr4:148781200-148784200	Weak transcription	Osteobl	bone
37	chr4:148781600-148783400	Weak transcription	Duodenum Mucosa	Duodenum
38	chr4:148781600-148786400	Enhancers	Adipose Nuclei	Adipose
39	chr4:148781800-148782400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr4:148782000-148782400	Enhancers	Rectal Smooth Muscle	rectum
41	chr4:148782000-148782400	Enhancers	HSMMtube	muscle
42	chr4:148782000-148782600	Enhancers	Muscle Satellite Cultured Cells	--
43	chr4:148782000-148782600	Enhancers	Psoas Muscle	Psoas
44	chr4:148782000-148783000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr4:148782000-148783000	Genic enhancers	Right Ventricle	heart
46	chr4:148782000-148783000	Strong transcription	HUVEC	blood vessel
47	chr4:148782000-148783000	Enhancers	NHDF-Ad	bronchial
48	chr4:148782000-148783200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr4:148782000-148783200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr4:148782000-148783200	Strong transcription	Gastric	stomach

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