Variant report

Variant	rs11846721
Chromosome Location	chr14:63903556-63903557
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:63898169..63900554-chr14:63902896..63904787,2	MCF-7	breast:

Extended variants
information (count: 12 )
Associated
traits (count: 4 )

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

rs_ID	r²[population]
rs11848219	0.98[ASN][1000 genomes]
rs4147456	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs58297905	0.93[ASN][1000 genomes]
rs61987169	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6573516	1.00[GIH][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73272599	0.98[ASN][1000 genomes]
rs766079	0.86[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv527251	chr14:63400786-64068806	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv520528	chr14:63400786-64157117	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv530774	chr14:63591348-64029881	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv915909	chr14:63620440-64560369	Active TSS Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
5	nsv832815	chr14:63750058-63913900	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs11846721	C14orf39	cis	cerebellum	SCAN
rs11846721	ESPNL	trans	brain	seeQTL
rs11846721	DPF3	trans	brain	seeQTL
rs11846721	GALNT13	trans	brain	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:63851200-63903600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr14:63851200-63922000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr14:63854800-63922400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr14:63862200-63903600	Weak transcription	HMEC	breast
5	chr14:63880800-63904400	Weak transcription	NHEK	skin
6	chr14:63887400-63918600	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr14:63887400-63918800	Weak transcription	Fetal Muscle Trunk	muscle
8	chr14:63888600-63903600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr14:63888600-63904800	Weak transcription	Dnd41	blood
10	chr14:63889000-63903800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr14:63889000-63904400	Weak transcription	NH-A	brain
12	chr14:63889000-63905000	Weak transcription	Thymus	Thymus
13	chr14:63889200-63904200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr14:63892000-63905200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr14:63894600-63903600	Weak transcription	Spleen	Spleen
16	chr14:63899400-63907800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr14:63899600-63904400	Weak transcription	HUVEC	blood vessel
18	chr14:63899800-63904400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr14:63899800-63906400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr14:63900400-63904800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr14:63900600-63904600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr14:63900600-63921800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr14:63900800-63904600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr14:63900800-63904600	Weak transcription	GM12878-XiMat	blood
25	chr14:63901200-63904600	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr14:63901200-63904600	Enhancers	Rectal Smooth Muscle	rectum
27	chr14:63901200-63906200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
28	chr14:63901400-63904000	Enhancers	Stomach Mucosa	stomach
29	chr14:63901400-63906000	Enhancers	Primary T helper cells PMA-I stimulated	--
30	chr14:63901600-63904000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr14:63901600-63904600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr14:63901600-63906200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
33	chr14:63901600-63907200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
34	chr14:63901800-63905400	Enhancers	Brain Cingulate Gyrus	brain
35	chr14:63901800-63906200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr14:63902000-63903600	Enhancers	Fetal Intestine Small	intestine
37	chr14:63902000-63903800	Enhancers	Fetal Muscle Leg	muscle
38	chr14:63902000-63903800	Enhancers	HSMMtube	muscle
39	chr14:63902000-63904600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr14:63902000-63904800	Enhancers	Osteobl	bone
41	chr14:63902000-63905000	Enhancers	Brain Substantia Nigra	brain
42	chr14:63902000-63905000	Enhancers	NHLF	lung
43	chr14:63902000-63905400	Enhancers	Fetal Stomach	stomach
44	chr14:63902000-63905400	Enhancers	Sigmoid Colon	Sigmoid Colon
45	chr14:63902000-63905600	Enhancers	Duodenum Mucosa	Duodenum
46	chr14:63902000-63906800	Enhancers	Primary T helper cells fromperipheralblood	blood
47	chr14:63902000-63907000	Enhancers	Fetal Heart	heart
48	chr14:63902200-63903600	Enhancers	Primary T cells from cord blood	blood
49	chr14:63902200-63903600	Enhancers	Psoas Muscle	Psoas
50	chr14:63902200-63903600	Enhancers	HSMM	muscle

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