Variant report

Variant	rs72843772
Chromosome Location	chr17:60050434-60050435
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:60004304..60005911-chr17:60047973..60050646,2	MCF-7	breast:
2	chr17:60048420..60050765-chr17:60062376..60064938,2	MCF-7	breast:
3	chr17:60049312..60052117-chr17:60059532..60062260,2	K562	blood:
4	chr17:60050203..60052259-chr17:60057638..60059611,2	K562	blood:
5	chr17:59939463..59941068-chr17:60050240..60051829,2	K562	blood:

Variant related genes	Relation type
ENSG00000108506	Chromatin interaction
ENSG00000136492	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10221202	0.98[ASN][1000 genomes]
rs1045196	1.00[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs10512491	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12601229	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs12601523	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs12603627	0.82[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs12937188	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16945724	1.00[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs16945762	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16945785	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2378946	0.82[AFR][1000 genomes]
rs28500646	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4280312	0.80[ASN][1000 genomes]
rs7224854	0.81[ASN][1000 genomes]
rs72843746	0.82[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs72843758	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs72843759	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs72843762	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72843767	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72843769	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72843770	1.00[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs72843771	1.00[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs72843775	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72843778	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72843782	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72843785	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72843788	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72843791	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72843793	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72843797	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72843801	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs72845403	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs72845404	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs72845405	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs72845406	0.80[EUR][1000 genomes]
rs753765	0.82[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs8081200	0.80[EUR][1000 genomes]
rs9910451	0.94[EUR][1000 genomes];0.92[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	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

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:60018000-60072800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
2	chr17:60018000-60073400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr17:60018600-60072600	Strong transcription	Fetal Thymus	thymus
4	chr17:60018800-60073600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr17:60019200-60051600	Strong transcription	Primary T helper cells fromperipheralblood	blood
6	chr17:60019600-60050600	Strong transcription	HUES6 Cell Line	embryonic stem cell
7	chr17:60020400-60050600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr17:60020400-60073200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr17:60020600-60073000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr17:60020800-60051800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr17:60020800-60073800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr17:60021200-60097000	Strong transcription	Dnd41	blood
13	chr17:60021800-60052400	Strong transcription	HepG2	liver
14	chr17:60021800-60073600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr17:60022000-60051800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr17:60022200-60052200	Strong transcription	Primary T cells fromperipheralblood	blood
17	chr17:60022200-60053200	Strong transcription	Fetal Intestine Large	intestine
18	chr17:60023600-60050600	Strong transcription	Duodenum Smooth Muscle	Duodenum
19	chr17:60025400-60074200	Strong transcription	Liver	Liver
20	chr17:60025400-60107600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr17:60028400-60059600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr17:60032800-60058600	Weak transcription	Fetal Heart	heart
23	chr17:60033000-60128400	Weak transcription	Stomach Mucosa	stomach
24	chr17:60033200-60056600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr17:60034800-60052200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr17:60034800-60072800	Strong transcription	Placenta	Placenta
27	chr17:60035800-60064400	Strong transcription	Rectal Mucosa Donor 29	rectum
28	chr17:60036000-60074000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr17:60036200-60050600	Strong transcription	Osteobl	bone
30	chr17:60036400-60070000	Strong transcription	Rectal Mucosa Donor 31	rectum
31	chr17:60038400-60059400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr17:60040400-60058800	Weak transcription	NHEK	skin
33	chr17:60042600-60058400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr17:60042600-60063600	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr17:60042800-60056000	Weak transcription	Rectal Smooth Muscle	rectum
36	chr17:60042800-60058600	Weak transcription	Brain Substantia Nigra	brain
37	chr17:60042800-60059600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr17:60042800-60059600	Weak transcription	Pancreas	Pancrea
39	chr17:60042800-60059800	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr17:60042800-60105200	Weak transcription	Psoas Muscle	Psoas
41	chr17:60043200-60059400	Weak transcription	Brain Cingulate Gyrus	brain
42	chr17:60044000-60058800	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr17:60044000-60059400	Weak transcription	Fetal Brain Male	brain
44	chr17:60044400-60062000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr17:60044800-60052600	Strong transcription	Cortex derived primary cultured neurospheres	brain
46	chr17:60044800-60059200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
47	chr17:60045000-60052200	Strong transcription	Sigmoid Colon	Sigmoid Colon
48	chr17:60045000-60052400	Strong transcription	Fetal Muscle Trunk	muscle
49	chr17:60045200-60051800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr17:60045200-60051800	Strong transcription	Fetal Muscle Leg	muscle

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