Variant report

Variant	rs11102704
Chromosome Location	chr1:114477497-114477498
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:114475803..114477575-chr15:75761149..75763286,2	MCF-7	breast:
2	chr1:114360381..114362673-chr1:114475492..114478484,2	K562	blood:

Variant related genes	Relation type
ENSG00000134242	Chromatin interaction
ENSG00000169410	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs17032011	0.95[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs2938319	0.91[CEU][hapmap];0.82[JPT][hapmap]
rs3006981	0.91[CEU][hapmap];0.82[JPT][hapmap]
rs937672	0.92[CEU][hapmap];0.83[JPT][hapmap]

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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11102704	DCLRE1B	cis	multi-tissue	Pritchard

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:114473200-114481200	Weak transcription	Spleen	Spleen
2	chr1:114473400-114480400	Weak transcription	Gastric	stomach
3	chr1:114473400-114483000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:114473400-114483200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr1:114473600-114480400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:114473600-114483000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr1:114473600-114483000	Weak transcription	Placenta	Placenta
8	chr1:114473600-114483200	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr1:114473600-114499200	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr1:114473800-114483000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:114473800-114483000	Weak transcription	Colonic Mucosa	Colon
12	chr1:114473800-114483200	Weak transcription	Right Ventricle	heart
13	chr1:114474200-114477800	Enhancers	Liver	Liver
14	chr1:114474200-114479800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr1:114474200-114482600	Weak transcription	Fetal Muscle Leg	muscle
16	chr1:114474200-114483000	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr1:114474200-114483000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr1:114474200-114483200	Weak transcription	Aorta	Aorta
19	chr1:114474200-114483400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr1:114474200-114489600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr1:114474400-114478400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr1:114474400-114478800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr1:114474400-114483200	Weak transcription	Fetal Brain Female	brain
24	chr1:114474600-114477800	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr1:114474600-114479800	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr1:114474600-114479800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr1:114474600-114480000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr1:114474600-114480200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr1:114474600-114483200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr1:114474600-114483200	Enhancers	Primary neutrophils fromperipheralblood	blood
31	chr1:114474800-114477600	Enhancers	Brain Anterior Caudate	brain
32	chr1:114474800-114477800	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr1:114474800-114478000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
34	chr1:114474800-114478400	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr1:114474800-114479800	Weak transcription	Brain Angular Gyrus	brain
36	chr1:114474800-114479800	Weak transcription	Fetal Heart	heart
37	chr1:114474800-114482600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr1:114474800-114482800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr1:114474800-114483000	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr1:114474800-114483000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr1:114474800-114483000	Weak transcription	Fetal Intestine Large	intestine
42	chr1:114474800-114483400	Weak transcription	HMEC	breast
43	chr1:114474800-114483400	Weak transcription	HSMMtube	muscle
44	chr1:114474800-114483800	Weak transcription	Fetal Kidney	kidney
45	chr1:114474800-114483800	Weak transcription	NHDF-Ad	bronchial
46	chr1:114474800-114488600	Weak transcription	Stomach Mucosa	stomach
47	chr1:114475000-114477800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr1:114475000-114478400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr1:114475000-114479800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr1:114475000-114481800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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