Variant report

Variant	rs35487582
Chromosome Location	chr17:38335870-38335871
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr17:38335710-38336104	PFSK-1	brain:	n/a	n/a
2	POLR2A	chr17:38335781-38336050	K562	blood:	n/a	n/a
3	POLR2A	chr17:38335831-38336405	HepG2	liver:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:38274376..38281367-chr17:38331383..38338006,23	MCF-7	breast:
2	chr17:38333764..38335887-chr17:38505691..38508093,2	MCF-7	breast:
3	chr17:38323739..38327546-chr17:38333419..38336567,4	MCF-7	breast:
4	chr17:38331383..38339312-chr17:38470464..38480799,28	MCF-7	breast:
5	chr17:38254925..38257007-chr17:38334127..38336173,2	MCF-7	breast:
6	chr17:38335151..38337068-chr17:38457907..38459512,2	MCF-7	breast:
7	chr17:38181641..38185122-chr17:38333882..38336606,4	MCF-7	breast:
8	chr17:38334048..38336424-chr17:73974608..73976163,2	MCF-7	breast:
9	chr17:38331368..38338782-chr17:38460574..38470405,11	MCF-7	breast:
10	chr17:38295337..38297025-chr17:38334277..38336904,2	K562	blood:
11	chr17:38253967..38258330-chr17:38333170..38336526,4	MCF-7	breast:
12	chr17:38136752..38138945-chr17:38335315..38337237,2	MCF-7	breast:

No data

Variant related genes	Relation type
RAPGEFL1	TF binding region
ENSG00000131759	Chromatin interaction
ENSG00000188895	Chromatin interaction
ENSG00000126368	Chromatin interaction
ENSG00000257949	Chromatin interaction
ENSG00000161533	Chromatin interaction
ENSG00000238793	Chromatin interaction
ENSG00000008838	Chromatin interaction
ENSG00000108349	Chromatin interaction
ENSG00000108344	Chromatin interaction
ENSG00000270145	Chromatin interaction
ENSG00000261408	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10451257	1.00[MEX][hapmap]
rs11867497	1.00[MEX][hapmap]
rs12937995	1.00[CEU][hapmap]
rs35163502	1.00[MEX][hapmap]
rs4135013	1.00[CEU][hapmap]
rs9895942	1.00[MEX][hapmap]
rs9913992	1.00[MEX][hapmap]

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:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38297800-38336600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr17:38327000-38336600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr17:38331400-38338200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr17:38333200-38347000	Weak transcription	Brain Substantia Nigra	brain
5	chr17:38333400-38336800	Weak transcription	HepG2	liver
6	chr17:38333600-38336000	Active TSS	Brain Anterior Caudate	brain
7	chr17:38333600-38336000	Active TSS	Brain Inferior Temporal Lobe	brain
8	chr17:38333600-38336400	Active TSS	Duodenum Mucosa	Duodenum
9	chr17:38333600-38337400	Active TSS	Esophagus	oesophagus
10	chr17:38333600-38339000	Weak transcription	Left Ventricle	heart
11	chr17:38333600-38339800	Weak transcription	Primary T cells from cord blood	blood
12	chr17:38333600-38347000	Weak transcription	Fetal Lung	lung
13	chr17:38334000-38336000	Active TSS	Rectal Mucosa Donor 31	rectum
14	chr17:38334000-38336000	Weak transcription	NHDF-Ad	bronchial
15	chr17:38334000-38336800	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr17:38334000-38337200	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr17:38334000-38341400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr17:38334000-38347000	Weak transcription	HUVEC	blood vessel
19	chr17:38334200-38336800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr17:38334200-38337400	Weak transcription	Adipose Nuclei	Adipose
21	chr17:38334200-38346800	Weak transcription	Spleen	Spleen
22	chr17:38334200-38347000	Weak transcription	GM12878-XiMat	blood
23	chr17:38334200-38347400	Weak transcription	Aorta	Aorta
24	chr17:38334400-38336000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr17:38334400-38336000	Weak transcription	Fetal Heart	heart
26	chr17:38334400-38337600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr17:38334400-38346800	Weak transcription	Colon Smooth Muscle	Colon
28	chr17:38334400-38346800	Weak transcription	Ovary	ovary
29	chr17:38334600-38337600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr17:38334600-38339800	Enhancers	Fetal Muscle Leg	muscle
31	chr17:38334600-38345200	Weak transcription	Right Ventricle	heart
32	chr17:38334600-38346600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr17:38334600-38346800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr17:38334800-38337200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr17:38334800-38337400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr17:38335000-38336000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr17:38335000-38336000	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr17:38335000-38336600	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr17:38335000-38337000	Weak transcription	Lung	lung
40	chr17:38335000-38337800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr17:38335000-38345000	Weak transcription	Brain Germinal Matrix	brain
42	chr17:38335000-38345400	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr17:38335000-38346400	Weak transcription	Stomach Smooth Muscle	stomach
44	chr17:38335200-38336000	Weak transcription	Brain Angular Gyrus	brain
45	chr17:38335200-38336000	Weak transcription	Fetal Stomach	stomach
46	chr17:38335200-38336200	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr17:38335200-38336200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr17:38335200-38336200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr17:38335200-38336200	Weak transcription	Dnd41	blood
50	chr17:38335200-38336400	Weak transcription	Pancreas	Pancrea

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