Variant report

Variant	rs11102707
Chromosome Location	chr1:114493583-114493584
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUN	chr1:114493532-114493878	HepG2	liver:	n/a	chr1:114493680-114493693
2	JUND	chr1:114493524-114493867	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:114469554..114476691-chr1:114493097..114498363,7	MCF-7	breast:
2	chr1:114353138..114356692-chr1:114488797..114493614,4	MCF-7	breast:
3	chr1:114492678..114494390-chr1:114495049..114496552,2	MCF-7	breast:

Variant related genes	Relation type
HIPK1	TF binding region
ENSG00000235527	Chromatin interaction
ENSG00000231128	Chromatin interaction
ENSG00000081019	Chromatin interaction
ENSG00000163349	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10108	1.00[ASW][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];1.00[LWK][hapmap];0.87[MKK][hapmap];0.82[TSI][hapmap];0.94[YRI][hapmap];0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs10494162	1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs10494163	0.89[CHD][hapmap];0.86[JPT][hapmap]
rs11102703	0.97[CHD][hapmap];1.00[JPT][hapmap];0.82[TSI][hapmap];0.82[ASN][1000 genomes]
rs11102706	0.91[ASN][1000 genomes]
rs11102708	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs11102709	0.84[CEU][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12127377	0.85[ASW][hapmap];0.84[CEU][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.92[MKK][hapmap];0.97[TSI][hapmap];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12129050	0.85[ASW][hapmap];0.84[CEU][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.92[MKK][hapmap];0.97[TSI][hapmap];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1217444	0.81[ASN][1000 genomes]
rs1503832	0.97[CHD][hapmap];1.00[JPT][hapmap];0.94[TSI][hapmap];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1553449	0.86[ASN][1000 genomes]
rs1553450	0.85[ASW][hapmap];0.84[CEU][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.92[MKK][hapmap];0.97[TSI][hapmap];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17852555	0.97[CHD][hapmap];1.00[JPT][hapmap];0.87[TSI][hapmap];0.89[ASN][1000 genomes]
rs1910485	0.83[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[TSI][hapmap];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1985435	0.85[ASN][1000 genomes]
rs1985436	0.86[ASN][1000 genomes]
rs41302825	0.89[ASN][1000 genomes]
rs6537800	0.80[ASN][1000 genomes]
rs6669370	0.83[CHB][hapmap];0.92[CHD][hapmap];0.93[JPT][hapmap];0.94[TSI][hapmap];0.89[ASN][1000 genomes]
rs6674384	0.97[CHD][hapmap];1.00[JPT][hapmap]
rs7364	0.92[CHD][hapmap];0.86[JPT][hapmap]
rs7519860	0.83[CEU][hapmap];0.89[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[TSI][hapmap];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7545300	1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7546851	0.83[CEU][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs878129	0.97[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.82[TSI][hapmap];0.81[ASN][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
rs11102707	DCLRE1B	cis	normal skin	skin_eQTL
rs11102707	DCLRE1B	cis	multi-tissue	Pritchard
rs11102707	DCLRE1B	cis	lymphoblastoid	seeQTL
rs11102707	DCLRE1B	Cis_1M	lymphoblastoid	RTeQTL
rs11102707	DCLRE1B	cis	lesional skin	skin_eQTL
rs11102707	DCLRE1B	cis	uninvolved skin	skin_eQTL

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:114473600-114499200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr1:114479000-114517600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr1:114484000-114510400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr1:114484000-114510400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr1:114484000-114511200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr1:114484200-114497800	Weak transcription	NHDF-Ad	bronchial
7	chr1:114484200-114499400	Weak transcription	Brain Germinal Matrix	brain
8	chr1:114484200-114499600	Weak transcription	HMEC	breast
9	chr1:114484200-114504800	Weak transcription	Esophagus	oesophagus
10	chr1:114484200-114505600	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr1:114484400-114510400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr1:114484600-114496400	Weak transcription	NHEK	skin
13	chr1:114485000-114496400	Weak transcription	Fetal Muscle Trunk	muscle
14	chr1:114485000-114500600	Weak transcription	Lung	lung
15	chr1:114485000-114510400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr1:114486400-114497200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr1:114486400-114499800	Weak transcription	Fetal Brain Male	brain
18	chr1:114486600-114496400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr1:114486600-114496400	Weak transcription	Placenta	Placenta
20	chr1:114486600-114497400	Weak transcription	Fetal Kidney	kidney
21	chr1:114487600-114495400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr1:114487800-114498800	Weak transcription	Left Ventricle	heart
23	chr1:114487800-114499200	Weak transcription	Ovary	ovary
24	chr1:114488000-114496600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr1:114488200-114499000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr1:114489600-114499800	Weak transcription	Fetal Brain Female	brain
27	chr1:114489600-114505800	Weak transcription	Gastric	stomach
28	chr1:114489800-114496400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr1:114489800-114496800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr1:114489800-114497200	Weak transcription	Osteobl	bone
31	chr1:114489800-114510400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr1:114490000-114495800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr1:114490000-114496400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr1:114490000-114496400	Weak transcription	Fetal Muscle Leg	muscle
35	chr1:114490000-114496800	Weak transcription	HSMM	muscle
36	chr1:114490000-114496800	Weak transcription	HSMMtube	muscle
37	chr1:114490000-114497200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
38	chr1:114490000-114499400	Weak transcription	NHLF	lung
39	chr1:114490000-114500600	Weak transcription	Pancreas	Pancrea
40	chr1:114490000-114505600	Weak transcription	Aorta	Aorta
41	chr1:114490200-114495400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr1:114490200-114496600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr1:114490200-114499200	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr1:114490200-114507200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr1:114490200-114510800	Weak transcription	A549	lung
46	chr1:114490400-114495600	Enhancers	Primary T killer memory cells from peripheral blood	blood
47	chr1:114490400-114495800	Weak transcription	Primary B cells from peripheral blood	blood
48	chr1:114490400-114496600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr1:114490400-114497800	Weak transcription	NH-A	brain
50	chr1:114490400-114499200	Weak transcription	Stomach Mucosa	stomach

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