Variant report

Variant	rs17032011
Chromosome Location	chr1:114475350-114475351
allele	A/G
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:5)
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	chr1:114475274-114475530	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:108284881..108287773-chr1:114473969..114476814,2	MCF-7	breast:
2	chr1:114353086..114356383-chr1:114467552..114475359,15	MCF-7	breast:
3	chr1:114444168..114452207-chr1:114466193..114476714,61	K562	blood:
4	chr1:114469554..114476691-chr1:114493097..114498363,7	MCF-7	breast:
5	chr1:114352067..114356642-chr1:114470131..114477025,16	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000235527	TF binding region
ENSG00000231128	Chromatin interaction
ENSG00000118655	Chromatin interaction
ENSG00000134262	Chromatin interaction
ENSG00000163349	Chromatin interaction
ENSG00000081019	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs11102704	0.95[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs3811019	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.90[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2752424	chr1:114189958-114712958	Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs17032011	DCLRE1B	cis	multi-tissue	Pritchard
rs17032011	DCLRE1B	cis	lymphoblastoid	seeQTL
rs17032011	PHTF1	cis	cerebellum	SCAN
rs17032011	PTPN22	cis	parietal	SCAN
rs17032011	SYT6	cis	parietal	SCAN
rs17032011	MAGI3	cis	cerebellum	SCAN

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:114470800-114476200	Active TSS	Thymus	Thymus
2	chr1:114473000-114475600	Flanking Active TSS	Primary hematopoietic stem cells	blood
3	chr1:114473200-114475400	Flanking Active TSS	Dnd41	blood
4	chr1:114473200-114477200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
5	chr1:114473200-114477200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr1:114473200-114481200	Weak transcription	Spleen	Spleen
7	chr1:114473400-114475400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
8	chr1:114473400-114475400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
9	chr1:114473400-114476000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
10	chr1:114473400-114476000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
11	chr1:114473400-114476600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr1:114473400-114477400	Flanking Active TSS	Primary T cells from cord blood	blood
13	chr1:114473400-114480400	Weak transcription	Gastric	stomach
14	chr1:114473400-114483000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr1:114473400-114483200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr1:114473600-114476200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr1:114473600-114476200	Weak transcription	Esophagus	oesophagus
18	chr1:114473600-114480400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr1:114473600-114483000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr1:114473600-114483000	Weak transcription	Placenta	Placenta
21	chr1:114473600-114483200	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr1:114473600-114499200	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr1:114473800-114475400	Enhancers	Fetal Brain Male	brain
24	chr1:114473800-114476200	Weak transcription	Left Ventricle	heart
25	chr1:114473800-114483000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr1:114473800-114483000	Weak transcription	Colonic Mucosa	Colon
27	chr1:114473800-114483200	Weak transcription	Right Ventricle	heart
28	chr1:114474000-114476400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
29	chr1:114474200-114475400	Enhancers	A549	lung
30	chr1:114474200-114475600	Enhancers	Fetal Lung	lung
31	chr1:114474200-114475800	Weak transcription	Fetal Stomach	stomach
32	chr1:114474200-114475800	Weak transcription	Small Intestine	intestine
33	chr1:114474200-114476600	Enhancers	Rectal Mucosa Donor 31	rectum
34	chr1:114474200-114476800	Enhancers	Brain Hippocampus Middle	brain
35	chr1:114474200-114476800	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr1:114474200-114477200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
37	chr1:114474200-114477800	Enhancers	Liver	Liver
38	chr1:114474200-114479800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr1:114474200-114482600	Weak transcription	Fetal Muscle Leg	muscle
40	chr1:114474200-114483000	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr1:114474200-114483000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr1:114474200-114483200	Weak transcription	Aorta	Aorta
43	chr1:114474200-114483400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr1:114474200-114489600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr1:114474400-114476200	Enhancers	NHEK	skin
46	chr1:114474400-114478400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr1:114474400-114478800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
48	chr1:114474400-114483200	Weak transcription	Fetal Brain Female	brain
49	chr1:114474600-114475400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr1:114474600-114476200	Enhancers	Duodenum Smooth Muscle	Duodenum

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