Variant report

Variant	rs72843788
Chromosome Location	chr17:60113827-60113828
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:60107140..60109283-chr17:60113223..60115385,2	MCF-7	breast:
2	chr17:60109100..60115940-chr17:60139087..60144589,10	MCF-7	breast:
3	chr17:60106228..60109334-chr17:60110578..60113962,3	MCF-7	breast:
4	chr17:60111538..60114046-chr17:60124883..60126946,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000108510	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10221202	0.88[ASN][1000 genomes]
rs1045196	0.87[ASN][1000 genomes]
rs10512491	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12937188	0.82[EUR][1000 genomes]
rs16945724	0.87[ASN][1000 genomes]
rs16945762	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16945785	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28500646	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4280312	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72843759	0.82[EUR][1000 genomes]
rs72843762	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72843767	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72843769	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72843770	0.88[ASN][1000 genomes]
rs72843771	0.88[ASN][1000 genomes]
rs72843772	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72843775	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72843778	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72843782	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72843785	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72843791	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72843793	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72843797	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72843801	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72845403	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72845404	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72845405	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72845406	0.84[EUR][1000 genomes]
rs9910451	0.98[EUR][1000 genomes];0.93[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	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
3	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
4	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:60033000-60128400	Weak transcription	Stomach Mucosa	stomach
2	chr17:60074600-60123800	Weak transcription	Right Atrium	heart
3	chr17:60075800-60114400	Strong transcription	Primary monocytes fromperipheralblood	blood
4	chr17:60077200-60136800	Strong transcription	Fetal Thymus	thymus
5	chr17:60098600-60114600	Strong transcription	Placenta	Placenta
6	chr17:60098600-60139200	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr17:60098800-60135000	Strong transcription	Dnd41	blood
8	chr17:60099000-60134200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr17:60099400-60114200	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr17:60099400-60114400	Strong transcription	HUES6 Cell Line	embryonic stem cell
11	chr17:60099400-60131000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr17:60099400-60139000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr17:60100600-60114200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr17:60105600-60117600	Strong transcription	Fetal Intestine Small	intestine
15	chr17:60105600-60120800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr17:60106000-60129800	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr17:60106800-60114600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr17:60108000-60115600	Weak transcription	Right Ventricle	heart
19	chr17:60108000-60117200	Weak transcription	Esophagus	oesophagus
20	chr17:60108000-60141400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr17:60108800-60139000	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr17:60109000-60114000	Strong transcription	Liver	Liver
23	chr17:60109000-60116600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr17:60109000-60119000	Weak transcription	Brain Germinal Matrix	brain
25	chr17:60109000-60119000	Weak transcription	Colonic Mucosa	Colon
26	chr17:60109000-60120200	Weak transcription	Small Intestine	intestine
27	chr17:60109000-60128600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr17:60109000-60141200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr17:60109600-60115400	Weak transcription	HUVEC	blood vessel
30	chr17:60110400-60123800	Weak transcription	Psoas Muscle	Psoas
31	chr17:60110600-60114800	Weak transcription	Gastric	stomach
32	chr17:60110600-60135200	Weak transcription	Aorta	Aorta
33	chr17:60110600-60139800	Weak transcription	Spleen	Spleen
34	chr17:60111000-60118400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr17:60111000-60120200	Weak transcription	Ovary	ovary
36	chr17:60111000-60130600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr17:60111000-60133800	Weak transcription	Pancreas	Pancrea
38	chr17:60111200-60114000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr17:60111200-60114400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr17:60111200-60114800	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr17:60111200-60115400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr17:60111200-60117200	Weak transcription	Rectal Smooth Muscle	rectum
43	chr17:60111200-60117600	Weak transcription	Fetal Brain Female	brain
44	chr17:60111200-60120200	Weak transcription	Brain Anterior Caudate	brain
45	chr17:60111200-60122600	Weak transcription	HMEC	breast
46	chr17:60111200-60123600	Weak transcription	Brain Hippocampus Middle	brain
47	chr17:60111200-60129000	Weak transcription	Brain Angular Gyrus	brain
48	chr17:60111200-60140200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr17:60111400-60114400	Weak transcription	Left Ventricle	heart
50	chr17:60111400-60114400	Weak transcription	Lung	lung

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