Variant report

Variant	rs6587753
Chromosome Location	chr1:150205719-150205720
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SIN3AK20	chr1:150205702-150209385	MCF-7	breast:	n/a	n/a
2	ZNF384	chr1:150205562-150205908	GM12878	blood:	n/a	chr1:150205712-150205720
3	MTA3	chr1:150205645-150209670	GM12878	blood:	n/a	n/a
4	CHD1	chr1:150205602-150209284	IMR90	lung:	n/a	chr1:150206544-150206554 chr1:150207090-150207100
5	SIN3AK20	chr1:150205694-150207458	MCF-7	breast:	n/a	n/a

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:150203436..150211066-chr1:150333611..150339492,20	K562	blood:
2	chr1:150205674..150207849-chr1:150521366..150523683,3	K562	blood:
3	chr1:150193027..150195228-chr1:150205376..150206988,2	MCF-7	breast:
4	chr1:150204090..150209498-chr1:150239337..150243073,9	K562	blood:
5	chr1:150120783..150123550-chr1:150205612..150208208,2	K562	blood:
6	chr1:150175161..150177546-chr1:150204659..150206770,2	K562	blood:
7	chr1:149857691..149860946-chr1:150205716..150209343,6	MCF-7	breast:
8	chr1:150196400..150199803-chr1:150204196..150206419,3	K562	blood:
9	chr1:150205006..150208304-chr1:150532619..150536152,3	MCF-7	breast:
10	chr1:150205585..150207162-chr1:150228414..150230615,2	K562	blood:
11	chr1:150205150..150208917-chr1:150946080..150950396,4	MCF-7	breast:
12	chr1:150205585..150209843-chr1:150227901..150231226,5	K562	blood:
13	chr1:150204882..150207260-chr1:150266148..150269015,2	MCF-7	breast:
14	chr1:150205053..150211036-chr1:150333116..150338498,15	K562	blood:

No data

Variant related genes	Relation type
RNU2-17P	TF binding region
ENSG00000225996	Chromatin interaction
ENSG00000184678	Chromatin interaction
ENSG00000118292	Chromatin interaction
ENSG00000163125	Chromatin interaction
ENSG00000143401	Chromatin interaction
ENSG00000143382	Chromatin interaction
ENSG00000023902	Chromatin interaction
ENSG00000271845	Chromatin interaction
ENSG00000178096	Chromatin interaction
ENSG00000203804	Chromatin interaction
ENSG00000117362	Chromatin interaction
ENSG00000184260	Chromatin interaction
ENSG00000184270	Chromatin interaction
ENSG00000187145	Chromatin interaction
ENSG00000143418	Chromatin interaction
ENSG00000118298	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10788872	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10888575	0.94[ASN][1000 genomes]
rs10888576	0.99[ASN][1000 genomes]
rs11205339	0.94[ASN][1000 genomes]
rs11205340	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11205343	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11205347	0.96[ASN][1000 genomes]
rs11205348	0.94[ASN][1000 genomes]
rs11811787	0.99[ASN][1000 genomes]
rs12057558	0.84[EUR][1000 genomes]
rs12131063	0.94[ASN][1000 genomes]
rs12133235	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12133238	0.94[ASN][1000 genomes]
rs12569047	0.93[ASN][1000 genomes]
rs1535873	0.94[ASN][1000 genomes]
rs1924549	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2038752	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2038753	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3118124	0.94[ASN][1000 genomes]
rs3121000	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3121001	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35938158	0.83[EUR][1000 genomes]
rs4408187	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55647200	0.99[ASN][1000 genomes]
rs55956539	0.99[ASN][1000 genomes]
rs59507173	0.94[ASN][1000 genomes]
rs61161619	0.95[ASN][1000 genomes]
rs6655935	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6660127	0.94[ASN][1000 genomes]
rs6665499	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6680040	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6682434	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6692738	0.94[ASN][1000 genomes]
rs6694215	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6703332	0.92[ASN][1000 genomes]
rs7522034	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7532164	0.94[ASN][1000 genomes]
rs7548543	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7551023	0.94[ASN][1000 genomes]
rs7555995	0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529719	chr1:150006344-150311095	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
2	nsv916014	chr1:150187139-150537483	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	164 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	chr1:150184200-150206600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:150186200-150206800	Weak transcription	Spleen	Spleen
3	chr1:150186400-150206000	Weak transcription	Colonic Mucosa	Colon
4	chr1:150186400-150206800	Weak transcription	Esophagus	oesophagus
5	chr1:150186600-150205800	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr1:150186600-150205800	Weak transcription	Right Atrium	heart
7	chr1:150186600-150206000	Weak transcription	Fetal Brain Male	brain
8	chr1:150186600-150206200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr1:150186600-150206200	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr1:150186600-150206400	Weak transcription	Aorta	Aorta
11	chr1:150186800-150205800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr1:150186800-150205800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr1:150186800-150205800	Weak transcription	Brain Germinal Matrix	brain
14	chr1:150186800-150205800	Weak transcription	Brain Substantia Nigra	brain
15	chr1:150186800-150206800	Weak transcription	Pancreas	Pancrea
16	chr1:150192800-150206800	Weak transcription	Gastric	stomach
17	chr1:150197800-150205800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr1:150198200-150206600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr1:150198800-150205800	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr1:150198800-150205800	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr1:150198800-150206200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr1:150199000-150205800	Weak transcription	Fetal Brain Female	brain
23	chr1:150199200-150205800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr1:150199200-150205800	Weak transcription	Colon Smooth Muscle	Colon
25	chr1:150199200-150205800	Weak transcription	Right Ventricle	heart
26	chr1:150199200-150205800	Weak transcription	HSMMtube	muscle
27	chr1:150199200-150206000	Weak transcription	Brain Angular Gyrus	brain
28	chr1:150199200-150206400	Weak transcription	Ovary	ovary
29	chr1:150199400-150205800	Weak transcription	Psoas Muscle	Psoas
30	chr1:150199400-150205800	Weak transcription	Rectal Smooth Muscle	rectum
31	chr1:150199400-150206200	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr1:150199800-150205800	Weak transcription	Brain Anterior Caudate	brain
33	chr1:150200000-150205800	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr1:150200000-150205800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr1:150200000-150205800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr1:150200000-150205800	Weak transcription	Brain Cingulate Gyrus	brain
37	chr1:150200000-150205800	Weak transcription	Stomach Smooth Muscle	stomach
38	chr1:150200000-150205800	Weak transcription	Thymus	Thymus
39	chr1:150200000-150205800	Weak transcription	NH-A	brain
40	chr1:150200000-150206000	Weak transcription	HUVEC	blood vessel
41	chr1:150200000-150206200	Weak transcription	Placenta	Placenta
42	chr1:150200000-150206800	Weak transcription	Lung	lung
43	chr1:150200200-150205800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr1:150200200-150206200	Weak transcription	Primary T cells from cord blood	blood
45	chr1:150200400-150205800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr1:150200600-150206000	Weak transcription	Duodenum Mucosa	Duodenum
47	chr1:150200800-150205800	Weak transcription	Adipose Nuclei	Adipose
48	chr1:150200800-150205800	Weak transcription	Liver	Liver
49	chr1:150200800-150205800	Weak transcription	HMEC	breast
50	chr1:150200800-150205800	Weak transcription	NHLF	lung

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