Variant report

Variant	rs72843775
Chromosome Location	chr17:60082206-60082207
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:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:60081778..60082764-chr20:54156274..54157373,8	MCF-7	breast:
2	chr17:59984959..59987360-chr17:60080196..60082621,4	MCF-7	breast:
3	chr17:60082178..60082734-chr20:54156853..54157384,2	MCF-7	breast:
4	chr17:60081541..60082370-chr20:54154818..54155603,3	MCF-7	breast:
5	chr17:60076388..60082656-chr17:60092955..60097043,6	MCF-7	breast:
6	chr17:60070989..60072709-chr17:60080027..60082957,3	MCF-7	breast:
7	chr17:60081459..60082762-chr20:54155388..54157391,9	MCF-7	breast:
8	chr17:60080313..60083251-chr17:60141793..60143983,4	MCF-7	breast:
9	chr17:59940486..59943242-chr17:60081179..60083524,3	MCF-7	breast:
10	chr17:60081635..60082469-chr20:54153640..54154405,2	MCF-7	breast:
11	chr17:59939445..59941230-chr17:60080867..60083068,2	MCF-7	breast:
12	chr17:60079916..60082717-chr20:54154638..54157436,18	MCF-7	breast:
13	chr17:60004211..60007034-chr17:60081016..60083481,3	MCF-7	breast:
14	chr17:60081482..60082326-chr2:210773823..210774820,2	MCF-7	breast:
15	chr17:60080572..60082564-chr17:60139030..60141974,2	K562	blood:
16	chr17:60080672..60083062-chr17:60094913..60097385,2	MCF-7	breast:
17	chr17:60081361..60082264-chr20:54156034..54156569,2	MCF-7	breast:
18	chr17:60081973..60082691-chr20:54156652..54157265,2	MCF-7	breast:
19	chr17:60080434..60082668-chr17:60139795..60141369,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000221302	Chromatin interaction
ENSG00000108506	Chromatin interaction
ENSG00000108510	Chromatin interaction
ENSG00000136492	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10221202	0.96[ASN][1000 genomes]
rs1045196	0.94[ASN][1000 genomes]
rs10512491	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12601229	0.80[EUR][1000 genomes]
rs12601523	0.80[EUR][1000 genomes]
rs12603627	0.80[EUR][1000 genomes]
rs12937188	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16945724	0.94[ASN][1000 genomes]
rs16945762	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16945785	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16945823	0.84[AMR][1000 genomes]
rs28500646	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4280312	0.86[ASN][1000 genomes]
rs7224854	0.82[ASN][1000 genomes]
rs72843746	0.80[EUR][1000 genomes]
rs72843758	0.80[EUR][1000 genomes]
rs72843759	0.84[EUR][1000 genomes]
rs72843762	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72843767	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72843769	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72843770	0.96[ASN][1000 genomes]
rs72843771	0.96[ASN][1000 genomes]
rs72843772	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72843778	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72843782	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72843785	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72843788	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72843791	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72843793	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72843797	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72843801	0.89[AMR][1000 genomes]
rs72845403	0.89[AMR][1000 genomes]
rs72845404	0.89[AMR][1000 genomes]
rs72845405	0.89[AMR][1000 genomes]
rs72845406	0.84[AMR][1000 genomes]
rs72845408	0.84[AMR][1000 genomes]
rs753765	0.80[EUR][1000 genomes]
rs9910451	0.92[EUR][1000 genomes];0.99[ASN][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	esv3378293	chr17:59744117-60124899	ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	175 gene(s)	inside rSNPs	diseases
2	nsv916786	chr17:59890834-60103687	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
3	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
4	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:60021200-60097000	Strong transcription	Dnd41	blood
2	chr17:60025400-60107600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr17:60033000-60128400	Weak transcription	Stomach Mucosa	stomach
4	chr17:60042800-60105200	Weak transcription	Psoas Muscle	Psoas
5	chr17:60048800-60097600	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr17:60050200-60100800	Weak transcription	Small Intestine	intestine
7	chr17:60059000-60088000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr17:60060400-60086800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr17:60060400-60088000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr17:60060400-60090600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr17:60060400-60096200	Weak transcription	Fetal Brain Male	brain
12	chr17:60060400-60098800	Weak transcription	Gastric	stomach
13	chr17:60060400-60099800	Weak transcription	Aorta	Aorta
14	chr17:60061600-60099600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr17:60062400-60086400	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr17:60062400-60106800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr17:60064800-60088200	Weak transcription	Pancreas	Pancrea
18	chr17:60067800-60086400	Weak transcription	HMEC	breast
19	chr17:60069200-60107600	Weak transcription	Spleen	Spleen
20	chr17:60069400-60082600	Weak transcription	Brain Germinal Matrix	brain
21	chr17:60069400-60087000	Weak transcription	Left Ventricle	heart
22	chr17:60069600-60099000	Weak transcription	Colonic Mucosa	Colon
23	chr17:60069800-60087800	Weak transcription	Brain Cingulate Gyrus	brain
24	chr17:60070200-60088000	Weak transcription	NHEK	skin
25	chr17:60070800-60086400	Weak transcription	Fetal Brain Female	brain
26	chr17:60071000-60083200	Weak transcription	Esophagus	oesophagus
27	chr17:60071600-60082800	Weak transcription	Lung	lung
28	chr17:60072200-60087800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr17:60072400-60082400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr17:60072400-60082600	Weak transcription	Fetal Muscle Leg	muscle
31	chr17:60072400-60087000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr17:60072400-60100600	Weak transcription	Right Ventricle	heart
33	chr17:60072600-60082400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr17:60072600-60082600	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr17:60074600-60088000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr17:60074600-60123800	Weak transcription	Right Atrium	heart
37	chr17:60074800-60086800	Weak transcription	HSMMtube	muscle
38	chr17:60074800-60087400	Weak transcription	Brain Angular Gyrus	brain
39	chr17:60075000-60092800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr17:60075800-60083000	Weak transcription	NH-A	brain
41	chr17:60075800-60085200	Strong transcription	HepG2	liver
42	chr17:60075800-60086400	Weak transcription	Adipose Nuclei	Adipose
43	chr17:60075800-60086400	Weak transcription	NHDF-Ad	bronchial
44	chr17:60075800-60087600	Weak transcription	Brain Substantia Nigra	brain
45	chr17:60075800-60087600	Weak transcription	Fetal Heart	heart
46	chr17:60075800-60088000	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr17:60075800-60114400	Strong transcription	Primary monocytes fromperipheralblood	blood
48	chr17:60076000-60085800	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr17:60076000-60087800	Weak transcription	NHLF	lung
50	chr17:60076200-60086800	Weak transcription	Brain Anterior Caudate	brain

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