Variant report

Variant	rs12601550
Chromosome Location	chr17:33641317-33641318
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11080337	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs55889228	0.89[EUR][1000 genomes]
rs7210737	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7221873	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9916075	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][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	nsv1055936	chr17:33327166-33884184	Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	112 gene(s)	inside rSNPs	diseases
2	nsv543317	chr17:33327166-33884184	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	112 gene(s)	inside rSNPs	diseases
3	nsv534371	chr17:33456878-34094068	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	137 gene(s)	inside rSNPs	diseases
4	nsv574741	chr17:33552275-33827134	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
5	nsv457724	chr17:33609247-33691409	Enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv574742	chr17:33609247-33691409	Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:33639600-33641600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
2	chr17:33639800-33641600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
3	chr17:33639800-33641600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
4	chr17:33639800-33641800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
5	chr17:33639800-33641800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
6	chr17:33640000-33641400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
7	chr17:33640000-33641400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr17:33640000-33641400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
9	chr17:33640000-33641400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr17:33640000-33641400	Bivalent Enhancer	Fetal Heart	heart
11	chr17:33640000-33641400	Flanking Active TSS	Left Ventricle	heart
12	chr17:33640000-33641400	Active TSS	Rectal Smooth Muscle	rectum
13	chr17:33640000-33641400	Flanking Active TSS	Right Atrium	heart
14	chr17:33640000-33641600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr17:33640000-33641600	Flanking Active TSS	Adipose Nuclei	Adipose
16	chr17:33640000-33641800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
17	chr17:33640000-33642200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
18	chr17:33640000-33642400	Enhancers	Lung	lung
19	chr17:33640000-33642400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
20	chr17:33640000-33643200	Enhancers	HMEC	breast
21	chr17:33640200-33641400	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
22	chr17:33640200-33641400	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
23	chr17:33640200-33641400	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
24	chr17:33640200-33641400	Weak transcription	Pancreas	Pancrea
25	chr17:33640200-33643200	Enhancers	NHLF	lung
26	chr17:33640400-33641400	Active TSS	ES-I3 Cell Line	embryonic stem cell
27	chr17:33640400-33641400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr17:33640400-33641400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr17:33640400-33641400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr17:33640400-33641400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr17:33640400-33641400	Bivalent/Poised TSS	Brain Substantia Nigra	brain
32	chr17:33640400-33641400	Weak transcription	Hela-S3	cervix
33	chr17:33640400-33641600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr17:33640400-33641800	Weak transcription	HSMM	muscle
35	chr17:33640400-33643000	Enhancers	NHDF-Ad	bronchial
36	chr17:33640400-33643000	Enhancers	NHEK	skin
37	chr17:33640600-33641400	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr17:33640600-33641400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
39	chr17:33640600-33641400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr17:33640600-33641400	Bivalent Enhancer	Fetal Lung	lung
41	chr17:33640600-33641400	Flanking Active TSS	Thymus	Thymus
42	chr17:33640600-33641800	Active TSS	Colon Smooth Muscle	Colon
43	chr17:33640600-33641800	Flanking Active TSS	Esophagus	oesophagus
44	chr17:33640600-33641800	Weak transcription	HSMMtube	muscle
45	chr17:33640600-33642400	Weak transcription	HUVEC	blood vessel
46	chr17:33640600-33642400	Weak transcription	K562	blood
47	chr17:33640800-33641400	Flanking Bivalent TSS/Enh	Brain Inferior Temporal Lobe	brain
48	chr17:33640800-33641600	Enhancers	GM12878-XiMat	blood
49	chr17:33640800-33641800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
50	chr17:33640800-33642000	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell

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