Variant report

Variant	rs45567834
Chromosome Location	chr17:38350583-38350584
allele	A/G
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:38348399..38350901-chr17:38351389..38353492,2	MCF-7	breast:
2	chr17:38349826..38352534-chr17:38443778..38445616,2	K562	blood:
3	chr17:38348080..38350590-chr17:38501950..38504205,2	K562	blood:
4	chr17:38330070..38334400-chr17:38346938..38351108,4	K562	blood:
5	chr17:38343845..38346711-chr17:38349005..38352130,3	K562	blood:
6	chr17:38334977..38338913-chr17:38347829..38351366,4	MCF-7	breast:
7	chr17:38345427..38348504-chr17:38348993..38351022,3	MCF-7	breast:
8	chr17:38349831..38351927-chr17:38352533..38355067,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000108352	Chromatin interaction
ENSG00000094804	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs12103921	0.99[ASN][1000 genomes]
rs12944717	0.93[ASN][1000 genomes]
rs16965687	0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2280400	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2314338	0.83[ASN][1000 genomes]
rs28537537	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs28663197	0.81[ASN][1000 genomes]
rs34223321	1.00[ASN][1000 genomes]
rs3744806	1.00[ASN][1000 genomes]
rs55767073	0.83[AMR][1000 genomes]
rs55772196	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55835834	0.88[ASN][1000 genomes]
rs55991953	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56013073	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56029626	0.89[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs59018914	0.88[ASN][1000 genomes]
rs59861136	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs61024420	0.91[ASN][1000 genomes]
rs6503537	0.82[ASN][1000 genomes]
rs6503539	0.82[ASN][1000 genomes]
rs67597966	0.94[ASN][1000 genomes]
rs72836633	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72836634	0.94[ASN][1000 genomes]
rs72836635	0.91[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs72836636	0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs72836639	0.87[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs72836640	0.89[ASN][1000 genomes]
rs72836641	0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs72836642	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs72836648	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7359537	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7405635	0.93[ASN][1000 genomes]
rs8073925	0.98[ASN][1000 genomes]
rs8082192	1.00[ASN][1000 genomes]
rs9891718	0.81[ASN][1000 genomes]
rs9892404	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs9892973	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9893520	0.81[ASN][1000 genomes]
rs9895163	0.81[ASN][1000 genomes]
rs9897092	0.81[ASN][1000 genomes]
rs9906409	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs9907683	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9908034	0.81[ASN][1000 genomes]
rs9908354	0.97[ASN][1000 genomes]
rs9911840	0.82[ASN][1000 genomes]
rs9912082	0.83[ASN][1000 genomes]
rs9916782	0.85[AMR][1000 genomes];0.82[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	nsv833444	chr17:38242823-38437280	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv525796	chr17:38306365-38405037	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38348000-38350800	Strong transcription	Sigmoid Colon	Sigmoid Colon
2	chr17:38348000-38351000	Weak transcription	Spleen	Spleen
3	chr17:38348000-38353400	Weak transcription	Aorta	Aorta
4	chr17:38348200-38350600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr17:38348200-38350800	Strong transcription	Rectal Mucosa Donor 31	rectum
6	chr17:38348200-38351600	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr17:38348200-38351600	Weak transcription	Right Ventricle	heart
8	chr17:38348200-38353200	Weak transcription	Thymus	Thymus
9	chr17:38348400-38350600	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr17:38348400-38350600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr17:38348400-38351000	Strong transcription	Fetal Intestine Small	intestine
12	chr17:38348400-38351400	Weak transcription	NH-A	brain
13	chr17:38348400-38351600	Weak transcription	NHLF	lung
14	chr17:38348400-38352000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr17:38348400-38352000	Weak transcription	Brain Cingulate Gyrus	brain
16	chr17:38348400-38352200	Weak transcription	Brain Substantia Nigra	brain
17	chr17:38348400-38354600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr17:38348400-38358200	Weak transcription	Adipose Nuclei	Adipose
19	chr17:38348400-38358400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr17:38348600-38350800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr17:38348600-38350800	Strong transcription	Esophagus	oesophagus
22	chr17:38348600-38351000	Weak transcription	Fetal Brain Male	brain
23	chr17:38348600-38351400	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr17:38348600-38358200	Weak transcription	HUVEC	blood vessel
25	chr17:38348600-38358200	Weak transcription	Osteobl	bone
26	chr17:38348800-38350800	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr17:38349000-38350600	Strong transcription	Skeletal Muscle Male	skeletal muscle
28	chr17:38349000-38350800	Strong transcription	Brain Germinal Matrix	brain
29	chr17:38349000-38350800	Weak transcription	Fetal Thymus	thymus
30	chr17:38349000-38351400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr17:38349200-38350600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr17:38349200-38350600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr17:38349600-38350600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr17:38349600-38351000	Enhancers	K562	blood
35	chr17:38349800-38350600	Strong transcription	H9 Cell Line	embryonic stem cell
36	chr17:38349800-38350600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
37	chr17:38349800-38350600	Genic enhancers	Fetal Brain Female	brain
38	chr17:38349800-38350800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr17:38349800-38351200	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr17:38349800-38351400	Enhancers	Dnd41	blood
41	chr17:38349800-38351600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr17:38349800-38351600	Enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr17:38349800-38352400	Enhancers	Fetal Muscle Trunk	muscle
44	chr17:38350000-38350600	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr17:38350000-38350600	Enhancers	Monocytes-CD14+_RO01746	blood
46	chr17:38350000-38350800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr17:38350000-38350800	Genic enhancers	Brain Inferior Temporal Lobe	brain
48	chr17:38350000-38351400	Enhancers	GM12878-XiMat	blood
49	chr17:38350000-38357400	Weak transcription	Placenta	Placenta
50	chr17:38350200-38350800	Weak transcription	Duodenum Mucosa	Duodenum

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