Variant report

Variant	rs8003388
Chromosome Location	chr14:45515708-45515709
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr14:45515469-45515722	A549	lung:	n/a	n/a
2	CEBPB	chr14:45515444-45515747	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:45513966..45516650-chr14:45524638..45526373,2	MCF-7	breast:

Variant related genes	Relation type
KLHL28	TF binding region

Extended variants
information (count: 90 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs10129456	0.91[YRI][hapmap];1.00[AMR][1000 genomes]
rs10130162	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10130287	1.00[AMR][1000 genomes]
rs10131349	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10131585	0.99[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs10131595	0.86[YRI][hapmap]
rs10131972	1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10132260	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10132311	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10132401	1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10132454	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10132492	0.91[YRI][hapmap];1.00[AMR][1000 genomes]
rs10132637	0.95[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10132697	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10133723	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10134083	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10135422	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10135653	0.90[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10138405	0.96[AFR][1000 genomes]
rs10139121	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10139464	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10140308	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10140534	0.95[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10140661	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10142928	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10143572	0.89[YRI][hapmap];1.00[AMR][1000 genomes]
rs10144179	1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs10144729	0.95[YRI][hapmap]
rs10145279	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10145792	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10145979	1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10146384	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10146650	0.81[YRI][hapmap]
rs10146732	0.84[AFR][1000 genomes]
rs10146930	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10147547	0.86[YRI][hapmap]
rs10147794	1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10147950	1.00[AMR][1000 genomes]
rs10148765	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10149416	0.96[AFR][1000 genomes]
rs10149748	0.91[YRI][hapmap]
rs10150272	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10151061	1.00[AMR][1000 genomes]
rs10450913	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11157429	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12100992	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12101074	0.91[YRI][hapmap];0.81[AFR][1000 genomes]
rs17092470	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17092482	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17115714	0.86[YRI][hapmap]
rs17115721	0.91[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17115735	0.95[YRI][hapmap]
rs17115737	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17115745	1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs28403384	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28406098	0.90[YRI][hapmap];0.80[AFR][1000 genomes]
rs28408667	0.89[YRI][hapmap]
rs28469277	1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs28513185	0.81[AFR][1000 genomes]
rs28513220	1.00[AMR][1000 genomes]
rs28520409	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28536084	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28544334	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28682279	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28685885	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28688045	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28690299	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28802144	0.89[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28831119	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4497593	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57818319	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59432531	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60726876	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7143763	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8008121	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8010366	1.00[AMR][1000 genomes]
rs8022599	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs879340	1.00[AMR][1000 genomes]
rs961194	0.89[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047886	chr14:45189653-45543182	Strong transcription Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv542079	chr14:45189653-45543182	Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv901841	chr14:45198196-45719643	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
4	esv1795667	chr14:45361680-45721052	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
5	esv1794986	chr14:45368685-45650813	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
6	esv1803131	chr14:45441932-45726848	Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
7	nsv1038384	chr14:45447187-45521583	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv933364	chr14:45467086-45705844	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
9	nsv901842	chr14:45506857-45713358	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
10	nsv901843	chr14:45506857-45833490	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
11	esv3331380	chr14:45514002-45515950	Strong transcription Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:45465800-45524000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr14:45465800-45552600	Weak transcription	HMEC	breast
3	chr14:45482800-45545400	Weak transcription	NHDF-Ad	bronchial
4	chr14:45493000-45535000	Weak transcription	Small Intestine	intestine
5	chr14:45499200-45523400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr14:45499800-45523400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr14:45502200-45525600	Weak transcription	NHEK	skin
8	chr14:45505200-45531400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr14:45506800-45533800	Weak transcription	Psoas Muscle	Psoas
10	chr14:45508000-45540000	Weak transcription	K562	blood
11	chr14:45508200-45528000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr14:45508200-45530200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr14:45508400-45540800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr14:45508400-45552400	Weak transcription	GM12878-XiMat	blood
15	chr14:45508400-45552600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr14:45508600-45530600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr14:45509000-45515800	Weak transcription	Colonic Mucosa	Colon
18	chr14:45509000-45516000	Weak transcription	Brain Cingulate Gyrus	brain
19	chr14:45509000-45516000	Weak transcription	Rectal Smooth Muscle	rectum
20	chr14:45509000-45523000	Weak transcription	Brain Germinal Matrix	brain
21	chr14:45509000-45541400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr14:45509200-45519400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr14:45509200-45519400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr14:45509200-45521000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr14:45509200-45521200	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr14:45509200-45522600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr14:45509200-45522800	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr14:45509200-45523200	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr14:45509200-45526800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr14:45509200-45528600	Weak transcription	Esophagus	oesophagus
31	chr14:45509200-45529800	Weak transcription	Spleen	Spleen
32	chr14:45509200-45535000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr14:45509200-45543400	Weak transcription	Lung	lung
34	chr14:45509200-45552600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr14:45509200-45552600	Weak transcription	Aorta	Aorta
36	chr14:45509200-45552600	Weak transcription	Pancreas	Pancrea
37	chr14:45509200-45552800	Weak transcription	Right Ventricle	heart
38	chr14:45509200-45553000	Weak transcription	Gastric	stomach
39	chr14:45509400-45521200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr14:45510800-45516400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr14:45511000-45518400	Strong transcription	Fetal Muscle Leg	muscle
42	chr14:45511400-45516800	Strong transcription	Adipose Nuclei	Adipose
43	chr14:45511600-45516200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr14:45511600-45530800	Weak transcription	Fetal Heart	heart
45	chr14:45511800-45516400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr14:45512000-45517400	Strong transcription	Duodenum Smooth Muscle	Duodenum
47	chr14:45512600-45516400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr14:45512600-45517000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr14:45513600-45516200	Strong transcription	HUES64 Cell Line	embryonic stem cell
50	chr14:45513600-45517200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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