Variant report

Variant	rs60535468
Chromosome Location	chr3:17588231-17588232
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:17585835..17588259-chr3:17590207..17593064,3	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11916993	0.94[AFR][1000 genomes]
rs11917279	1.00[AFR][1000 genomes]
rs11923225	0.88[AFR][1000 genomes]
rs11925079	1.00[AFR][1000 genomes]
rs56975774	0.94[AFR][1000 genomes]
rs57167178	1.00[AFR][1000 genomes]
rs58983540	0.94[AFR][1000 genomes]
rs59007406	1.00[AFR][1000 genomes]
rs59994592	0.88[AFR][1000 genomes]
rs73153022	1.00[AFR][1000 genomes]
rs73153062	0.84[AFR][1000 genomes]
rs73155232	1.00[AFR][1000 genomes]
rs73160960	0.89[AFR][1000 genomes]
rs73161405	0.84[AFR][1000 genomes]
rs73161449	1.00[AFR][1000 genomes]
rs73161460	1.00[AFR][1000 genomes]
rs73165737	0.94[AFR][1000 genomes]
rs73165787	0.94[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv876590	chr3:17230884-17604963	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	esv2755406	chr3:17237396-17589896	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv876591	chr3:17246392-17671992	Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv915606	chr3:17357042-17668263	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv999568	chr3:17360261-17594750	Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv999460	chr3:17360261-17720103	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv536510	chr3:17360261-17720103	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv876592	chr3:17369313-17604963	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	esv2755442	chr3:17372796-17589896	Genic enhancers Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv876593	chr3:17419843-17604963	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv1013069	chr3:17560456-17783372	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:17557600-17597200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr3:17561000-17599000	Weak transcription	Pancreas	Pancrea
3	chr3:17563200-17593400	Weak transcription	Aorta	Aorta
4	chr3:17575000-17607600	Weak transcription	Dnd41	blood
5	chr3:17575000-17613400	Weak transcription	Primary B cells from peripheral blood	blood
6	chr3:17577000-17588800	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr3:17577200-17593000	Weak transcription	Fetal Heart	heart
8	chr3:17580000-17619400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr3:17581200-17606200	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr3:17582000-17588400	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr3:17583800-17596800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr3:17584000-17613200	Weak transcription	GM12878-XiMat	blood
13	chr3:17584200-17599000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr3:17584200-17608600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr3:17584400-17593600	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr3:17586000-17594200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr3:17586200-17603000	Weak transcription	Fetal Intestine Small	intestine
18	chr3:17587000-17613600	Weak transcription	Primary B cells from cord blood	blood
19	chr3:17587400-17588400	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr3:17587400-17589000	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr3:17587400-17593000	Weak transcription	A549	lung
22	chr3:17587400-17595800	Weak transcription	Primary hematopoietic stem cells	blood
23	chr3:17588000-17589200	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr3:17588200-17589000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr3:17588200-17589200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr3:17588200-17589200	Enhancers	HUES64 Cell Line	embryonic stem cell

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