Variant report

Variant	rs17100926
Chromosome Location	chr14:72194401-72194402
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:71786872..71789651-chr14:72193299..72196105,2	MCF-7	breast:
2	chr14:72187360..72190029-chr14:72192852..72194712,2	K562	blood:
3	chr14:72186285..72190344-chr14:72190566..72195953,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000259146	Chromatin interaction
ENSG00000197555	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11850220	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1473130	0.94[YRI][hapmap]
rs8007783	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][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	esv3398985	chr14:71927884-72404676	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv530794	chr14:72113818-73034008	Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1047559	chr14:72151736-72282151	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Obesity-related traits	23251661	GWAS catalog

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:72129400-72196800	Weak transcription	Right Ventricle	heart
2	chr14:72148200-72200400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr14:72160200-72202000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr14:72165200-72202000	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr14:72166800-72196400	Weak transcription	Primary hematopoietic stem cells	blood
6	chr14:72168800-72201600	Weak transcription	Stomach Mucosa	stomach
7	chr14:72172000-72196800	Weak transcription	Colonic Mucosa	Colon
8	chr14:72176400-72197000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr14:72176400-72200000	Weak transcription	Small Intestine	intestine
10	chr14:72177200-72196800	Weak transcription	Rectal Smooth Muscle	rectum
11	chr14:72179000-72196400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr14:72179000-72196800	Weak transcription	Fetal Lung	lung
13	chr14:72182200-72207400	Strong transcription	GM12878-XiMat	blood
14	chr14:72185400-72196200	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr14:72185800-72206200	Strong transcription	Primary B cells from peripheral blood	blood
16	chr14:72187000-72204000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr14:72187600-72206200	Strong transcription	Dnd41	blood
18	chr14:72187600-72207600	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr14:72187800-72206200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr14:72188200-72206400	Strong transcription	Primary T cells from cord blood	blood
21	chr14:72188400-72196600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr14:72188600-72206000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr14:72188800-72199400	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr14:72188800-72205800	Strong transcription	Fetal Intestine Large	intestine
25	chr14:72188800-72207600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr14:72189600-72204400	Strong transcription	Fetal Stomach	stomach
27	chr14:72189800-72194600	Strong transcription	Stomach Smooth Muscle	stomach
28	chr14:72189800-72205800	Strong transcription	Fetal Intestine Small	intestine
29	chr14:72189800-72206000	Strong transcription	Duodenum Mucosa	Duodenum
30	chr14:72189800-72206000	Strong transcription	Spleen	Spleen
31	chr14:72189800-72206600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr14:72189800-72206800	Strong transcription	Primary neutrophils fromperipheralblood	blood
33	chr14:72189800-72206800	Strong transcription	Primary B cells from cord blood	blood
34	chr14:72190000-72194800	Strong transcription	Duodenum Smooth Muscle	Duodenum
35	chr14:72190000-72206000	Strong transcription	Primary T helper cells PMA-I stimulated	--
36	chr14:72190000-72206000	Strong transcription	Primary T helper cells fromperipheralblood	blood
37	chr14:72190200-72206000	Strong transcription	Placenta	Placenta
38	chr14:72190400-72196800	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr14:72190600-72214200	Weak transcription	K562	blood
40	chr14:72191400-72206000	Strong transcription	Liver	Liver
41	chr14:72191600-72194600	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr14:72191600-72197800	Genic enhancers	Osteobl	bone
43	chr14:72191600-72206000	Strong transcription	Gastric	stomach
44	chr14:72191600-72206000	Strong transcription	Pancreas	Pancrea
45	chr14:72191800-72196400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr14:72192000-72194800	Genic enhancers	NHEK	skin
47	chr14:72192000-72195600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr14:72192000-72196200	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr14:72192000-72196400	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr14:72192000-72196600	Weak transcription	Brain Substantia Nigra	brain

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