Variant report

Variant	rs17348259
Chromosome Location	chr14:31031116-31031117
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:31029408..31031753-chr14:31090278..31092487,2	K562	blood:
2	chr14:31030641..31032270-chr14:31034025..31036137,2	K562	blood:
3	chr14:31027121..31031753-chr14:31090278..31094067,6	K562	blood:

Variant related genes	Relation type
ENSG00000092108	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs17348231	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17362475	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17363198	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17433265	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1884582	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28483238	1.00[EUR][1000 genomes]
rs45531233	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58653311	1.00[EUR][1000 genomes]
rs7157286	1.00[EUR][1000 genomes]
rs73253017	1.00[EUR][1000 genomes]
rs73254546	1.00[EUR][1000 genomes]
rs73254548	1.00[EUR][1000 genomes]
rs73254556	1.00[EUR][1000 genomes]
rs73254558	1.00[EUR][1000 genomes]
rs73254560	0.92[EUR][1000 genomes]
rs73254562	1.00[EUR][1000 genomes]
rs73254580	1.00[EUR][1000 genomes]
rs73254586	1.00[EUR][1000 genomes]
rs73254588	1.00[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	nsv564169	chr14:30819087-31541494	Strong transcription Genic enhancers ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1036419	chr14:30969616-31224226	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv901581	chr14:30978745-31585289	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31029000-31071800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr14:31029200-31031800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr14:31029200-31031800	Weak transcription	Pancreas	Pancrea
4	chr14:31029200-31033600	Weak transcription	Lung	lung
5	chr14:31029200-31034400	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr14:31029200-31042200	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr14:31029200-31071800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr14:31029400-31031200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr14:31029400-31031200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr14:31029400-31031800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr14:31029400-31032000	Weak transcription	Gastric	stomach
12	chr14:31029400-31032000	Weak transcription	Stomach Smooth Muscle	stomach
13	chr14:31029400-31059400	Weak transcription	Left Ventricle	heart
14	chr14:31029400-31060400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr14:31029800-31031600	Weak transcription	Fetal Intestine Small	intestine
16	chr14:31029800-31031800	Weak transcription	Fetal Muscle Trunk	muscle
17	chr14:31029800-31031800	Weak transcription	Fetal Stomach	stomach
18	chr14:31029800-31038800	Weak transcription	Adipose Nuclei	Adipose
19	chr14:31029800-31054000	Weak transcription	Fetal Intestine Large	intestine
20	chr14:31030000-31031400	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr14:31030000-31038400	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr14:31030200-31031200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr14:31030200-31031200	Weak transcription	Fetal Thymus	thymus
24	chr14:31030200-31031600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr14:31030200-31031800	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr14:31030200-31032600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr14:31030200-31038400	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr14:31030200-31039000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr14:31030200-31039000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr14:31030200-31053200	Weak transcription	Fetal Muscle Leg	muscle
31	chr14:31030400-31031200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
32	chr14:31030400-31031200	Strong transcription	HSMM	muscle
33	chr14:31030400-31031200	Genic enhancers	NHEK	skin
34	chr14:31030400-31031400	Enhancers	Primary T helper cells PMA-I stimulated	--
35	chr14:31030400-31031600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr14:31030400-31031600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr14:31030400-31031800	Weak transcription	Thymus	Thymus
38	chr14:31030400-31034000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr14:31030400-31034000	Weak transcription	Primary neutrophils fromperipheralblood	blood
40	chr14:31030400-31035000	Weak transcription	Brain Hippocampus Middle	brain
41	chr14:31030400-31035000	Weak transcription	Psoas Muscle	Psoas
42	chr14:31030400-31035800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr14:31030400-31037600	Weak transcription	Fetal Kidney	kidney
44	chr14:31030400-31041600	Weak transcription	Brain Anterior Caudate	brain
45	chr14:31030400-31042600	Weak transcription	Ovary	ovary
46	chr14:31030400-31042800	Weak transcription	Primary B cells from cord blood	blood
47	chr14:31030400-31044600	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr14:31030400-31046600	Weak transcription	Primary hematopoietic stem cells	blood
49	chr14:31030400-31050600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr14:31030400-31050600	Weak transcription	Rectal Mucosa Donor 29	rectum

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