Variant report

Variant	rs9903293
Chromosome Location	chr17:38332027-38332028
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr17:38331867-38332464	HepG2	liver:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:38274376..38281367-chr17:38331383..38338006,23	MCF-7	breast:
2	chr17:38331383..38339312-chr17:38470464..38480799,28	MCF-7	breast:
3	chr17:38330070..38334400-chr17:38346938..38351108,4	K562	blood:
4	chr17:38331368..38338782-chr17:38460574..38470405,11	MCF-7	breast:
5	chr17:38331593..38335002-chr17:38443466..38446781,3	MCF-7	breast:
6	chr17:38177591..38179361-chr17:38330455..38332177,2	MCF-7	breast:

No data

Variant related genes	Relation type
RAPGEFL1	TF binding region
ENSG00000108352	Chromatin interaction
ENSG00000188895	Chromatin interaction
ENSG00000131759	Chromatin interaction
ENSG00000008838	Chromatin interaction
ENSG00000094804	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10512482	1.00[EUR][1000 genomes]
rs1104761	0.92[EUR][1000 genomes]
rs11540720	1.00[EUR][1000 genomes]
rs12103533	1.00[EUR][1000 genomes]
rs15685	0.92[EUR][1000 genomes]
rs16965660	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16965669	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16965734	1.00[EUR][1000 genomes]
rs16965736	1.00[EUR][1000 genomes]
rs16965748	1.00[EUR][1000 genomes]
rs16965774	1.00[EUR][1000 genomes]
rs16965778	1.00[EUR][1000 genomes]
rs17616543	0.92[EUR][1000 genomes]
rs17616672	0.92[EUR][1000 genomes]
rs17616879	0.92[EUR][1000 genomes]
rs17617263	0.92[EUR][1000 genomes]
rs17678817	0.92[EUR][1000 genomes]
rs17678959	0.92[EUR][1000 genomes]
rs17678990	0.92[EUR][1000 genomes]
rs17679086	0.92[EUR][1000 genomes]
rs17679361	0.92[EUR][1000 genomes]
rs17680217	0.92[EUR][1000 genomes]
rs17680410	0.92[EUR][1000 genomes]
rs17680507	0.92[EUR][1000 genomes]
rs17680624	0.92[EUR][1000 genomes]
rs2012667	0.92[EUR][1000 genomes]
rs2229773	0.92[EUR][1000 genomes]
rs28362320	1.00[EUR][1000 genomes]
rs28362321	0.92[EUR][1000 genomes]
rs28526298	1.00[EUR][1000 genomes]
rs33998939	0.92[EUR][1000 genomes]
rs34270904	1.00[EUR][1000 genomes]
rs34300454	1.00[EUR][1000 genomes]
rs35783632	0.92[EUR][1000 genomes]
rs35898909	0.92[EUR][1000 genomes]
rs41283417	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41283423	0.92[EUR][1000 genomes]
rs4134993	0.92[EUR][1000 genomes]
rs4134998	0.92[EUR][1000 genomes]
rs4135005	0.92[EUR][1000 genomes]
rs4135007	0.92[EUR][1000 genomes]
rs4135012	0.92[EUR][1000 genomes]
rs4135019	0.92[EUR][1000 genomes]
rs4135021	0.92[EUR][1000 genomes]
rs4135027	0.92[EUR][1000 genomes]
rs4135030	0.92[EUR][1000 genomes]
rs45612441	0.92[EUR][1000 genomes]
rs8067519	1.00[EUR][1000 genomes]
rs8071687	1.00[EUR][1000 genomes]
rs8077482	1.00[EUR][1000 genomes]
rs9889905	0.85[EUR][1000 genomes]
rs9891944	0.92[EUR][1000 genomes]
rs9894364	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9894807	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9898500	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9899425	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9900154	1.00[EUR][1000 genomes]
rs9903261	0.86[AFR][1000 genomes]
rs9906274	0.92[EUR][1000 genomes]
rs9909777	1.00[EUR][1000 genomes]
rs9909811	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9910373	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9915775	1.00[EUR][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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38297800-38333000	Strong transcription	Fetal Muscle Trunk	muscle
2	chr17:38297800-38336600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr17:38298200-38333000	Strong transcription	Fetal Thymus	thymus
4	chr17:38298600-38332200	Strong transcription	Fetal Intestine Small	intestine
5	chr17:38308200-38333200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr17:38314200-38333000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr17:38314800-38333200	Weak transcription	Right Atrium	heart
8	chr17:38315600-38333000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr17:38315600-38333000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr17:38316200-38333200	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr17:38317000-38333000	Strong transcription	Spleen	Spleen
12	chr17:38317200-38333200	Strong transcription	Thymus	Thymus
13	chr17:38317400-38333400	Strong transcription	Primary neutrophils fromperipheralblood	blood
14	chr17:38317400-38333800	Strong transcription	Dnd41	blood
15	chr17:38317600-38333000	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr17:38317600-38333000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr17:38317600-38333200	Strong transcription	Left Ventricle	heart
18	chr17:38317800-38332800	Strong transcription	Brain Hippocampus Middle	brain
19	chr17:38320600-38332800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr17:38322400-38333200	Weak transcription	Psoas Muscle	Psoas
21	chr17:38323800-38332800	Strong transcription	Right Ventricle	heart
22	chr17:38324600-38332400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr17:38324600-38332800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr17:38324600-38333000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr17:38324800-38332200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
26	chr17:38324800-38332200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr17:38324800-38332800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr17:38324800-38333000	Strong transcription	Fetal Stomach	stomach
29	chr17:38324800-38333200	Strong transcription	Adipose Nuclei	Adipose
30	chr17:38325000-38332400	Strong transcription	Fetal Muscle Leg	muscle
31	chr17:38325000-38333000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr17:38325000-38333000	Strong transcription	Placenta	Placenta
33	chr17:38325000-38333000	Strong transcription	Skeletal Muscle Male	skeletal muscle
34	chr17:38325200-38332800	Weak transcription	Fetal Heart	heart
35	chr17:38325200-38333000	Strong transcription	Primary T cells fromperipheralblood	blood
36	chr17:38325200-38333000	Strong transcription	Skeletal Muscle Female	skeletal muscle
37	chr17:38325200-38333000	Strong transcription	Stomach Smooth Muscle	stomach
38	chr17:38327000-38333000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr17:38327000-38336600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
40	chr17:38327800-38333000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr17:38328000-38332800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr17:38328200-38332200	Weak transcription	NHEK	skin
43	chr17:38328200-38332400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr17:38328200-38332400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr17:38328200-38333400	Weak transcription	Pancreatic Islets	Pancreatic Islet
46	chr17:38328400-38332200	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr17:38328400-38332400	Weak transcription	Rectal Smooth Muscle	rectum
48	chr17:38328400-38333200	Weak transcription	Small Intestine	intestine
49	chr17:38328600-38332400	Weak transcription	Gastric	stomach
50	chr17:38328600-38332800	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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