Variant report

Variant	rs4531801
Chromosome Location	chr17:60134897-60134898
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:60111472..60113607-chr17:60133776..60136191,2	MCF-7	breast:
2	chr17:60118121..60121524-chr17:60132689..60136079,4	K562	blood:
3	chr16:85496980..85498957-chr17:60132474..60135025,2	MCF-7	breast:
4	chr17:60018036..60020087-chr17:60133824..60135422,2	MCF-7	breast:
5	chr17:60131533..60136089-chr17:60136212..60137998,4	MCF-7	breast:
6	chr17:60003563..60006524-chr17:60133377..60135094,2	MCF-7	breast:
7	chr17:56735242..56737749-chr17:60133777..60136292,2	MCF-7	breast:
8	chr17:60020965..60024852-chr17:60134621..60138471,4	MCF-7	breast:
9	chr17:60119837..60122417-chr17:60131972..60135352,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000108506	Chromatin interaction
ENSG00000202077	Chromatin interaction

Extended variants
information (count: 82 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs57185107	1.00[AFR][1000 genomes]
rs57882344	1.00[AFR][1000 genomes]
rs58969307	1.00[AFR][1000 genomes]
rs59950875	1.00[AFR][1000 genomes]
rs60371870	1.00[AFR][1000 genomes]
rs60520625	1.00[AFR][1000 genomes]
rs60624850	1.00[AFR][1000 genomes]
rs60734042	1.00[AFR][1000 genomes]
rs60883751	1.00[AFR][1000 genomes]
rs61333147	1.00[AFR][1000 genomes]
rs61525118	1.00[AFR][1000 genomes]
rs73332529	0.90[AFR][1000 genomes]
rs73332531	0.90[AFR][1000 genomes]
rs73332532	0.90[AFR][1000 genomes]
rs73332535	0.90[AFR][1000 genomes]
rs73332536	0.90[AFR][1000 genomes]
rs73332538	0.90[AFR][1000 genomes]
rs73332540	0.90[AFR][1000 genomes]
rs73332544	0.90[AFR][1000 genomes]
rs73332546	0.90[AFR][1000 genomes]
rs73332552	0.90[AFR][1000 genomes]
rs73332559	1.00[AFR][1000 genomes]
rs73332562	1.00[AFR][1000 genomes]
rs73332563	1.00[AFR][1000 genomes]
rs73332589	1.00[AFR][1000 genomes]
rs73332592	1.00[AFR][1000 genomes]
rs73332602	1.00[AFR][1000 genomes]
rs73334603	1.00[AFR][1000 genomes]
rs73334608	1.00[AFR][1000 genomes]
rs73334628	1.00[AFR][1000 genomes]
rs73334639	1.00[AFR][1000 genomes]
rs73334640	1.00[AFR][1000 genomes]
rs73334641	1.00[AFR][1000 genomes]
rs73334645	1.00[AFR][1000 genomes]
rs73334646	1.00[AFR][1000 genomes]
rs73334651	1.00[AFR][1000 genomes]
rs73334652	1.00[AFR][1000 genomes]
rs73334653	1.00[AFR][1000 genomes]
rs73334655	1.00[AFR][1000 genomes]
rs73334666	1.00[AFR][1000 genomes]
rs73334668	1.00[AFR][1000 genomes]
rs73334669	1.00[AFR][1000 genomes]
rs73334673	0.81[AFR][1000 genomes]
rs73334679	1.00[AFR][1000 genomes]
rs73334682	1.00[AFR][1000 genomes]
rs73334684	1.00[AFR][1000 genomes]
rs73334687	1.00[AFR][1000 genomes]
rs73334688	1.00[AFR][1000 genomes]
rs73334690	1.00[AFR][1000 genomes]
rs73334691	1.00[AFR][1000 genomes]
rs73334693	1.00[AFR][1000 genomes]
rs73334698	1.00[AFR][1000 genomes]
rs73334700	1.00[AFR][1000 genomes]
rs73334701	1.00[AFR][1000 genomes]
rs73334702	1.00[AFR][1000 genomes]
rs73336406	1.00[AFR][1000 genomes]
rs73336409	1.00[AFR][1000 genomes]
rs73336410	1.00[AFR][1000 genomes]
rs73336411	1.00[AFR][1000 genomes]
rs73336412	1.00[AFR][1000 genomes]
rs73336415	1.00[AFR][1000 genomes]
rs73336423	1.00[AFR][1000 genomes]
rs73336428	1.00[AFR][1000 genomes]
rs73336429	1.00[AFR][1000 genomes]
rs73336431	1.00[AFR][1000 genomes]
rs73336432	1.00[AFR][1000 genomes]
rs73336433	1.00[AFR][1000 genomes]
rs73336434	1.00[AFR][1000 genomes]
rs73336446	1.00[AFR][1000 genomes]
rs73336448	1.00[AFR][1000 genomes]
rs73336461	1.00[AFR][1000 genomes]
rs73336464	1.00[AFR][1000 genomes]
rs73336465	1.00[AFR][1000 genomes]
rs73336466	1.00[AFR][1000 genomes]
rs73336476	0.90[AFR][1000 genomes]
rs73336480	0.90[AFR][1000 genomes]
rs73338415	0.81[AFR][1000 genomes]
rs73338428	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062816	chr17:60074670-60470465	Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
2	esv2753884	chr17:60077852-60190630	Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	esv2755037	chr17:60086508-60386211	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
4	esv3415630	chr17:60124819-60401635	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:60077200-60136800	Strong transcription	Fetal Thymus	thymus
2	chr17:60098600-60139200	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr17:60098800-60135000	Strong transcription	Dnd41	blood
4	chr17:60099400-60139000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr17:60108000-60141400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr17:60108800-60139000	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr17:60109000-60141200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr17:60110600-60135200	Weak transcription	Aorta	Aorta
9	chr17:60110600-60139800	Weak transcription	Spleen	Spleen
10	chr17:60111200-60140200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr17:60111400-60138400	Weak transcription	Fetal Brain Male	brain
12	chr17:60111400-60140400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr17:60111400-60141400	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr17:60115000-60140000	Weak transcription	Gastric	stomach
15	chr17:60115400-60135000	Strong transcription	Rectal Mucosa Donor 29	rectum
16	chr17:60116000-60139800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr17:60116200-60139800	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr17:60116600-60139000	Strong transcription	HUES48 Cell Line	embryonic stem cell
19	chr17:60117200-60136800	Strong transcription	Primary B cells from peripheral blood	blood
20	chr17:60117400-60139200	Strong transcription	HUES64 Cell Line	embryonic stem cell
21	chr17:60118000-60135000	Strong transcription	Placenta	Placenta
22	chr17:60119800-60136800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr17:60120600-60136800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr17:60121600-60136800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr17:60124000-60136800	Weak transcription	Fetal Heart	heart
26	chr17:60124200-60135400	Weak transcription	Right Atrium	heart
27	chr17:60124200-60139200	Weak transcription	Right Ventricle	heart
28	chr17:60126200-60141600	Weak transcription	Esophagus	oesophagus
29	chr17:60126600-60136600	Weak transcription	Colonic Mucosa	Colon
30	chr17:60129400-60136200	Weak transcription	NHEK	skin
31	chr17:60129400-60136800	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr17:60129600-60139000	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr17:60129800-60139000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr17:60129800-60139000	Weak transcription	Fetal Kidney	kidney
35	chr17:60130000-60135400	Weak transcription	HMEC	breast
36	chr17:60130000-60136800	Weak transcription	Stomach Smooth Muscle	stomach
37	chr17:60130000-60139200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
38	chr17:60130200-60136200	Weak transcription	Fetal Lung	lung
39	chr17:60130200-60136600	Weak transcription	Brain Germinal Matrix	brain
40	chr17:60130400-60136800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr17:60130600-60135200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr17:60130600-60136600	Weak transcription	Primary hematopoietic stem cells	blood
43	chr17:60130600-60139200	Weak transcription	HUVEC	blood vessel
44	chr17:60131200-60138000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr17:60131400-60136000	Weak transcription	Pancreatic Islets	Pancreatic Islet
46	chr17:60132000-60135400	Genic enhancers	Primary T helper cells PMA-I stimulated	--
47	chr17:60132200-60137000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr17:60132400-60138800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr17:60132600-60135000	Strong transcription	Rectal Mucosa Donor 31	rectum
50	chr17:60132800-60135400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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