Variant report

Variant	rs11624518
Chromosome Location	chr14:33180351-33180352
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:33179998..33180960-chr14:33469089..33469812,2	MCF-7	breast:
2	chr14:33180317..33181019-chr14:33295661..33296988,3	MCF-7	breast:
3	chr14:33180094..33180909-chr14:33467256..33468196,5	MCF-7	breast:
4	chr14:33180083..33180602-chr14:33295763..33296544,2	MCF-7	breast:
5	chr14:33057598..33058377-chr14:33179991..33180930,2	MCF-7	breast:
6	chr14:33179937..33180965-chr14:33467313..33468082,5	MCF-7	breast:
7	chr14:33180042..33180844-chr14:34261545..34262067,2	MCF-7	breast:
8	chr14:33179922..33180975-chr14:33811467..33812228,3	MCF-7	breast:

No data

Extended variants
information (count: 4 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs10148857	0.90[GIH][hapmap];0.92[TSI][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045035	chr14:32986003-33543227	Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv542021	chr14:32986003-33543227	Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv428624	chr14:33065571-33214223	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs11624518	C14orf128	cis	cerebellum	SCAN
rs11624518	RNF212	trans	lymphoblastoid	seeQTL
rs11624518	STRN3	cis	parietal	SCAN

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:33172600-33191600	Weak transcription	Psoas Muscle	Psoas
2	chr14:33173200-33194800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr14:33177000-33181200	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr14:33177000-33181400	Enhancers	Fetal Heart	heart
5	chr14:33177200-33180600	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr14:33177400-33180400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr14:33177400-33180600	Enhancers	Fetal Stomach	stomach
8	chr14:33177400-33181000	Enhancers	Brain Angular Gyrus	brain
9	chr14:33177600-33181000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr14:33177600-33181200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr14:33177800-33181800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr14:33178600-33180400	Weak transcription	HSMM	muscle
13	chr14:33178800-33180600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr14:33178800-33183200	Weak transcription	Aorta	Aorta
15	chr14:33178800-33191600	Weak transcription	Right Ventricle	heart
16	chr14:33179000-33181000	Enhancers	NHDF-Ad	bronchial
17	chr14:33179000-33193400	Weak transcription	HSMMtube	muscle
18	chr14:33179400-33180400	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr14:33179400-33180600	Flanking Active TSS	Fetal Lung	lung
20	chr14:33179600-33180400	Flanking Active TSS	Adipose Nuclei	Adipose
21	chr14:33179600-33180600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
22	chr14:33179600-33180600	Active TSS	Duodenum Smooth Muscle	Duodenum
23	chr14:33179800-33180800	Enhancers	Fetal Muscle Leg	muscle
24	chr14:33179800-33181000	Enhancers	Brain Inferior Temporal Lobe	brain
25	chr14:33180000-33180400	Active TSS	Stomach Smooth Muscle	stomach
26	chr14:33180000-33180600	Enhancers	Left Ventricle	heart
27	chr14:33180000-33180600	Enhancers	NH-A	brain
28	chr14:33180000-33180800	Enhancers	NHLF	lung
29	chr14:33180200-33180400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr14:33180200-33180400	Enhancers	Rectal Smooth Muscle	rectum
31	chr14:33180200-33180400	Enhancers	Osteobl	bone
32	chr14:33180200-33180600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr14:33180200-33180600	Enhancers	Colon Smooth Muscle	Colon
34	chr14:33180200-33180800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
35	chr14:33180200-33180800	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr14:33180200-33181000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr14:33180200-33181000	Enhancers	Brain Anterior Caudate	brain
38	chr14:33180200-33181000	Enhancers	Brain Substantia Nigra	brain
39	chr14:33180200-33181200	Enhancers	Brain Cingulate Gyrus	brain
40	chr14:33180200-33181200	Enhancers	Brain Hippocampus Middle	brain
41	chr14:33180200-33181200	Enhancers	Placenta	Placenta

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