Variant report

Variant	rs11847317
Chromosome Location	chr14:55481014-55481015
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:55478452..55481298-chr14:55482952..55484497,2	K562	blood:
2	chr14:55477843..55481656-chr14:55484735..55486972,4	K562	blood:
3	chr14:55480870..55485212-chr14:55487390..55493890,8	K562	blood:
4	chr14:55472914..55474496-chr14:55480153..55482140,2	K562	blood:
5	chr14:55479188..55481121-chr14:55516830..55518551,2	K562	blood:
6	chr14:55480695..55484277-chr14:55517579..55519959,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000168175	Chromatin interaction
ENSG00000198554	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11844338	1.00[AMR][1000 genomes]
rs11846098	1.00[AMR][1000 genomes]
rs11848698	1.00[AMR][1000 genomes]
rs28532361	1.00[AMR][1000 genomes]
rs7151285	1.00[AMR][1000 genomes]
rs7155099	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs7156068	1.00[AMR][1000 genomes]
rs8008935	1.00[AMR][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	nsv932970	chr14:55326559-55532749	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55418600-55492200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr14:55421800-55481400	Weak transcription	Placenta	Placenta
3	chr14:55421800-55492800	Weak transcription	Aorta	Aorta
4	chr14:55422400-55492400	Weak transcription	Fetal Kidney	kidney
5	chr14:55429000-55492400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr14:55430400-55484000	Weak transcription	Lung	lung
7	chr14:55434000-55492800	Weak transcription	Primary B cells from cord blood	blood
8	chr14:55434200-55486800	Weak transcription	Primary B cells from peripheral blood	blood
9	chr14:55437600-55483600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr14:55438600-55490200	Strong transcription	HUES64 Cell Line	embryonic stem cell
11	chr14:55439400-55485600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
12	chr14:55439400-55490200	Strong transcription	HUES48 Cell Line	embryonic stem cell
13	chr14:55442200-55492800	Weak transcription	Fetal Intestine Large	intestine
14	chr14:55443200-55481200	Weak transcription	Pancreas	Pancrea
15	chr14:55443400-55492200	Weak transcription	NHLF	lung
16	chr14:55447800-55484600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr14:55454200-55492400	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr14:55455800-55486600	Weak transcription	HepG2	liver
19	chr14:55458400-55492200	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr14:55458400-55492200	Weak transcription	NH-A	brain
21	chr14:55461200-55485200	Strong transcription	Dnd41	blood
22	chr14:55461600-55483200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr14:55464400-55486800	Weak transcription	Fetal Heart	heart
24	chr14:55467800-55486800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr14:55468600-55492400	Weak transcription	Osteobl	bone
26	chr14:55468800-55481600	Weak transcription	HMEC	breast
27	chr14:55468800-55492200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr14:55472000-55483800	Weak transcription	Brain Substantia Nigra	brain
29	chr14:55472000-55493400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr14:55472200-55483800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr14:55472200-55486600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr14:55472200-55491000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr14:55472400-55489800	Weak transcription	NHEK	skin
34	chr14:55472400-55492000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr14:55472400-55492400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr14:55472400-55492400	Weak transcription	Thymus	Thymus
37	chr14:55472400-55492800	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr14:55472600-55492000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr14:55472600-55492200	Weak transcription	Primary T cells from cord blood	blood
40	chr14:55472800-55491000	Weak transcription	Fetal Intestine Small	intestine
41	chr14:55472800-55492200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr14:55473000-55493400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr14:55475000-55481200	Weak transcription	Primary neutrophils fromperipheralblood	blood
44	chr14:55475000-55492600	Weak transcription	Fetal Muscle Trunk	muscle
45	chr14:55475200-55486800	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr14:55475400-55488000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr14:55475400-55492200	Weak transcription	NHDF-Ad	bronchial
48	chr14:55475600-55490800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
49	chr14:55476800-55488000	Weak transcription	Fetal Stomach	stomach
50	chr14:55477800-55481600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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