Variant report

Variant	rs72843769
Chromosome Location	chr17:60034233-60034234
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:60003458..60007739-chr17:60031552..60035376,4	MCF-7	breast:
2	chr17:60032435..60034452-chr17:60142134..60143728,2	MCF-7	breast:
3	chr17:60003720..60006070-chr17:60032703..60035089,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000108510	Chromatin interaction
ENSG00000108506	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10221202	0.94[ASN][1000 genomes]
rs1045196	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10512491	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[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];0.86[ASN][1000 genomes]
rs16945724	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs16945762	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16945785	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2378946	0.82[AFR][1000 genomes]
rs28500646	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4280312	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];0.92[ASN][1000 genomes]
rs72843767	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72843770	1.00[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs72843771	1.00[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs72843772	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72843775	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72843778	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72843782	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72843785	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72843788	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72843791	0.82[AFR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72843793	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72843797	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72843801	0.80[EUR][1000 genomes]
rs72845403	0.80[EUR][1000 genomes]
rs72845404	0.80[EUR][1000 genomes]
rs72845405	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];0.93[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	chr17:60017800-60050400	Strong transcription	Adipose Nuclei	Adipose
2	chr17:60018000-60046800	Strong transcription	Primary neutrophils fromperipheralblood	blood
3	chr17:60018000-60072800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
4	chr17:60018000-60073400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr17:60018200-60034400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr17:60018600-60047000	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr17:60018600-60047200	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr17:60018600-60072600	Strong transcription	Fetal Thymus	thymus
9	chr17:60018800-60073600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr17:60019000-60040000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr17:60019200-60051600	Strong transcription	Primary T helper cells fromperipheralblood	blood
12	chr17:60019600-60050600	Strong transcription	HUES6 Cell Line	embryonic stem cell
13	chr17:60020200-60050400	Strong transcription	Primary T helper cells PMA-I stimulated	--
14	chr17:60020400-60050600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr17:60020400-60073200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr17:60020600-60043400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr17:60020600-60047200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr17:60020600-60073000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr17:60020800-60051800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr17:60020800-60073800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr17:60021000-60047600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
22	chr17:60021000-60050200	Strong transcription	Duodenum Mucosa	Duodenum
23	chr17:60021200-60043600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr17:60021200-60097000	Strong transcription	Dnd41	blood
25	chr17:60021800-60052400	Strong transcription	HepG2	liver
26	chr17:60021800-60073600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr17:60022000-60035800	Strong transcription	Brain Germinal Matrix	brain
28	chr17:60022000-60036600	Strong transcription	Cortex derived primary cultured neurospheres	brain
29	chr17:60022000-60043000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr17:60022000-60051800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr17:60022200-60034600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr17:60022200-60044200	Strong transcription	Fetal Muscle Trunk	muscle
33	chr17:60022200-60052200	Strong transcription	Primary T cells fromperipheralblood	blood
34	chr17:60022200-60053200	Strong transcription	Fetal Intestine Large	intestine
35	chr17:60023000-60043200	Strong transcription	Fetal Muscle Leg	muscle
36	chr17:60023200-60040200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr17:60023200-60049400	Strong transcription	Skeletal Muscle Male	skeletal muscle
38	chr17:60023600-60050600	Strong transcription	Duodenum Smooth Muscle	Duodenum
39	chr17:60023800-60034600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr17:60025400-60036800	Strong transcription	Primary T cells from cord blood	blood
41	chr17:60025400-60074200	Strong transcription	Liver	Liver
42	chr17:60025400-60107600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr17:60026000-60039600	Strong transcription	Fetal Stomach	stomach
44	chr17:60026000-60040600	Strong transcription	Lung	lung
45	chr17:60028400-60035600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr17:60028400-60037200	Weak transcription	Esophagus	oesophagus
47	chr17:60028400-60059600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr17:60029400-60034400	Strong transcription	ES-I3 Cell Line	embryonic stem cell
49	chr17:60030200-60044200	Strong transcription	Thymus	Thymus
50	chr17:60031000-60041400	Weak transcription	Gastric	stomach

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