Variant report

Variant	rs17348231
Chromosome Location	chr14:31030946-31030947
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	chr14:31027330..31031100-chr14:31087785..31093139,9	MCF-7	breast:
4	chr14:31027121..31031753-chr14:31090278..31094067,6	K562	blood:

Variant related genes	Relation type
ENSG00000092108	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs17348259	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];0.84[EUR][1000 genomes]
rs17363198	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17433265	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1884582	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs28483238	0.84[EUR][1000 genomes]
rs45531233	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs58653311	0.84[EUR][1000 genomes]
rs7157286	0.84[EUR][1000 genomes]
rs73253017	0.84[EUR][1000 genomes]
rs73254546	0.84[EUR][1000 genomes]
rs73254548	0.84[EUR][1000 genomes]
rs73254556	0.84[EUR][1000 genomes]
rs73254558	0.84[EUR][1000 genomes]
rs73254562	0.84[EUR][1000 genomes]
rs73254580	0.84[EUR][1000 genomes]
rs73254586	0.84[EUR][1000 genomes]
rs73254588	0.84[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	chr14:31027600-31031000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr14:31029000-31071800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr14:31029200-31031800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr14:31029200-31031800	Weak transcription	Pancreas	Pancrea
5	chr14:31029200-31033600	Weak transcription	Lung	lung
6	chr14:31029200-31034400	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr14:31029200-31042200	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr14:31029200-31071800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr14:31029400-31031000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
10	chr14:31029400-31031200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr14:31029400-31031200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr14:31029400-31031800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr14:31029400-31032000	Weak transcription	Gastric	stomach
14	chr14:31029400-31032000	Weak transcription	Stomach Smooth Muscle	stomach
15	chr14:31029400-31059400	Weak transcription	Left Ventricle	heart
16	chr14:31029400-31060400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr14:31029600-31031000	Flanking Active TSS	Dnd41	blood
18	chr14:31029600-31031000	Flanking Active TSS	HepG2	liver
19	chr14:31029800-31031000	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr14:31029800-31031000	Enhancers	Primary T killer memory cells from peripheral blood	blood
21	chr14:31029800-31031000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr14:31029800-31031600	Weak transcription	Fetal Intestine Small	intestine
23	chr14:31029800-31031800	Weak transcription	Fetal Muscle Trunk	muscle
24	chr14:31029800-31031800	Weak transcription	Fetal Stomach	stomach
25	chr14:31029800-31038800	Weak transcription	Adipose Nuclei	Adipose
26	chr14:31029800-31054000	Weak transcription	Fetal Intestine Large	intestine
27	chr14:31030000-31031000	Enhancers	Primary T helper naive cells from peripheral blood	blood
28	chr14:31030000-31031000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
29	chr14:31030000-31031400	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr14:31030000-31038400	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr14:31030200-31031000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
32	chr14:31030200-31031000	Enhancers	Fetal Lung	lung
33	chr14:31030200-31031000	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
34	chr14:31030200-31031200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr14:31030200-31031200	Weak transcription	Fetal Thymus	thymus
36	chr14:31030200-31031600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr14:31030200-31031800	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr14:31030200-31032600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr14:31030200-31038400	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr14:31030200-31039000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr14:31030200-31039000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr14:31030200-31053200	Weak transcription	Fetal Muscle Leg	muscle
43	chr14:31030400-31031000	Active TSS	HUES64 Cell Line	embryonic stem cell
44	chr14:31030400-31031000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr14:31030400-31031000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr14:31030400-31031000	Active TSS	Fetal Brain Male	brain
47	chr14:31030400-31031000	Enhancers	Fetal Brain Female	brain
48	chr14:31030400-31031000	Flanking Active TSS	A549	lung
49	chr14:31030400-31031000	Enhancers	HUVEC	blood vessel
50	chr14:31030400-31031200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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