Variant report

Variant	rs72828056
Chromosome Location	chr17:33941321-33941322
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:33932060..33934877-chr17:33939469..33942065,2	MCF-7	breast:
2	chr17:33933800..33936366-chr17:33936981..33942006,8	K562	blood:
3	chr17:33940042..33942067-chr17:33943790..33945473,2	K562	blood:

Variant related genes	Relation type
ENSG00000006125	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs12103451	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12103729	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12150473	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12150480	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16971277	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs321600	0.87[ASN][1000 genomes]
rs321602	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34619890	0.83[EUR][1000 genomes]
rs55898431	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56056154	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56227129	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56292300	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72828059	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72828073	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72828084	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9892037	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9892539	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9906309	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9906872	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9908809	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9911836	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[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	nsv534371	chr17:33456878-34094068	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	137 gene(s)	inside rSNPs	diseases
2	nsv908079	chr17:33849869-34034851	Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
3	nsv1060890	chr17:33884124-34011034	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
4	nsv543318	chr17:33884124-34011034	Genic enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	40 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	chr17:33915600-33954600	Weak transcription	Small Intestine	intestine
2	chr17:33916000-33942000	Weak transcription	Right Atrium	heart
3	chr17:33916400-33944800	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr17:33916800-33945400	Weak transcription	Stomach Mucosa	stomach
5	chr17:33916800-34001200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr17:33920600-33942200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr17:33920600-33942800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr17:33920600-33944000	Strong transcription	Dnd41	blood
9	chr17:33920600-33969800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr17:33920800-33975800	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr17:33921000-33941400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr17:33921000-33942200	Strong transcription	Primary neutrophils fromperipheralblood	blood
13	chr17:33921000-33943000	Strong transcription	HUES64 Cell Line	embryonic stem cell
14	chr17:33921000-33946200	Strong transcription	HUES48 Cell Line	embryonic stem cell
15	chr17:33921000-33946600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr17:33921000-34024400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr17:33921800-33944000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr17:33924600-33941400	Weak transcription	Psoas Muscle	Psoas
19	chr17:33926000-33955200	Weak transcription	Pancreas	Pancrea
20	chr17:33926200-33943800	Weak transcription	Fetal Heart	heart
21	chr17:33926800-33952600	Weak transcription	Fetal Brain Male	brain
22	chr17:33929800-33942200	Strong transcription	Sigmoid Colon	Sigmoid Colon
23	chr17:33931000-34040200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr17:33931800-33942400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr17:33932400-33942200	Strong transcription	Fetal Muscle Leg	muscle
26	chr17:33932600-33942000	Strong transcription	Fetal Lung	lung
27	chr17:33932600-33943000	Strong transcription	Muscle Satellite Cultured Cells	--
28	chr17:33933000-33943000	Strong transcription	Osteobl	bone
29	chr17:33933000-33967400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr17:33933000-33997800	Weak transcription	Esophagus	oesophagus
31	chr17:33933600-33941400	Weak transcription	Aorta	Aorta
32	chr17:33933600-33952800	Weak transcription	Brain Substantia Nigra	brain
33	chr17:33933600-33967400	Weak transcription	Gastric	stomach
34	chr17:33934200-33945600	Strong transcription	K562	blood
35	chr17:33934400-33944000	Strong transcription	Rectal Mucosa Donor 31	rectum
36	chr17:33935000-33951400	Weak transcription	Brain Angular Gyrus	brain
37	chr17:33935600-33944200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr17:33935600-33953000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr17:33935600-33953400	Weak transcription	HSMMtube	muscle
40	chr17:33936000-33953800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
41	chr17:33936200-33941800	Weak transcription	NHLF	lung
42	chr17:33936800-33956800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr17:33937000-33951000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr17:33937000-33951400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr17:33937000-33951400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr17:33937000-33951800	Weak transcription	HepG2	liver
47	chr17:33937200-33947000	Weak transcription	Placenta	Placenta
48	chr17:33937200-33951200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr17:33937200-33951400	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr17:33937400-33941400	Weak transcription	Lung	lung

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