Variant report

Variant	rs11845772
Chromosome Location	chr14:81396346-81396347
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:81396050..81399080-chr14:81399956..81402754,3	K562	blood:

Extended variants
information (count: 92 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:89)

rs_ID	r²[population]
rs10129361	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10130315	0.90[YRI][hapmap]
rs10130613	0.95[YRI][hapmap];1.00[AMR][1000 genomes]
rs10130687	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10130858	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10130908	0.91[YRI][hapmap];0.83[AFR][1000 genomes]
rs10132917	0.87[YRI][hapmap]
rs10133039	0.95[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10133081	0.91[YRI][hapmap]
rs10133213	0.95[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10133246	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10134049	0.95[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10134286	0.95[YRI][hapmap];0.83[AFR][1000 genomes]
rs10137290	0.91[YRI][hapmap];0.83[AFR][1000 genomes]
rs10137669	0.95[YRI][hapmap];0.87[AFR][1000 genomes]
rs10139039	0.95[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10139626	0.85[AFR][1000 genomes]
rs10139628	0.95[YRI][hapmap]
rs10141192	0.95[YRI][hapmap];1.00[AMR][1000 genomes]
rs10142758	1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10143757	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10144178	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10144828	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10145860	0.87[YRI][hapmap]
rs10146123	0.95[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10148517	0.95[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10149433	0.91[YRI][hapmap]
rs10150391	0.95[YRI][hapmap];0.88[AFR][1000 genomes]
rs10151410	0.95[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10151557	0.95[AFR][1000 genomes]
rs10438029	0.95[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11844105	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11844724	0.91[YRI][hapmap];0.90[AMR][1000 genomes]
rs11844869	0.85[AFR][1000 genomes]
rs11845100	0.91[YRI][hapmap];0.83[AFR][1000 genomes]
rs11845556	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11846509	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11847064	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11848413	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11849246	0.85[YRI][hapmap];1.00[AMR][1000 genomes]
rs11849362	0.83[AFR][1000 genomes]
rs11850467	0.95[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11851465	0.95[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11851697	0.95[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12323870	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12587252	0.81[AMR][1000 genomes]
rs17111059	0.91[YRI][hapmap]
rs17111220	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17111229	0.91[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1863767	0.88[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2195102	0.95[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28445165	0.83[AFR][1000 genomes]
rs28510159	1.00[AMR][1000 genomes]
rs28576038	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28609268	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28631251	1.00[AMR][1000 genomes]
rs28638187	0.83[AFR][1000 genomes]
rs28771783	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28811052	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28856091	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34336276	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34529456	1.00[AMR][1000 genomes]
rs34929621	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55806640	0.87[AFR][1000 genomes]
rs55908787	0.87[AFR][1000 genomes]
rs55956216	0.81[AMR][1000 genomes]
rs56835406	0.87[AFR][1000 genomes]
rs60459982	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60831956	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7142436	0.87[AFR][1000 genomes]
rs7146496	0.86[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7146963	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7148019	0.82[YRI][hapmap]
rs7152740	0.95[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7152900	0.91[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7153324	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7153585	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7154345	0.95[YRI][hapmap];0.83[AFR][1000 genomes]
rs7159966	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74064586	0.87[AFR][1000 genomes]
rs74064589	0.87[AFR][1000 genomes]
rs74064591	0.83[AFR][1000 genomes]
rs74064754	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74066925	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8010968	0.95[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8015542	0.95[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8019256	0.90[YRI][hapmap]
rs9323695	1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9805948	0.93[AFR][1000 genomes];1.00[AMR][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	nsv869348	chr14:80921098-81535754	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv832840	chr14:81270033-81423583	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
3	esv2761847	chr14:81392124-81453137	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81351400-81398400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr14:81358000-81396600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr14:81359400-81406000	Weak transcription	A549	lung
4	chr14:81359800-81407200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr14:81369600-81397200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr14:81375400-81407600	Weak transcription	Gastric	stomach
7	chr14:81379400-81407400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr14:81382600-81406400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr14:81382800-81396800	Weak transcription	Primary B cells from cord blood	blood
10	chr14:81382800-81397200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr14:81382800-81397200	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr14:81387800-81407200	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr14:81390000-81405000	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr14:81390000-81407200	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr14:81392200-81407200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr14:81392400-81406600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr14:81392600-81396400	Weak transcription	Spleen	Spleen
18	chr14:81392600-81407200	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr14:81392600-81407200	Weak transcription	Fetal Stomach	stomach
20	chr14:81392800-81407400	Weak transcription	Esophagus	oesophagus
21	chr14:81393000-81407600	Weak transcription	Lung	lung
22	chr14:81393600-81397400	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr14:81393600-81399400	Weak transcription	Right Atrium	heart
24	chr14:81393600-81407200	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr14:81393800-81396600	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr14:81393800-81397000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr14:81393800-81397200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr14:81394000-81396800	Weak transcription	HSMMtube	muscle
29	chr14:81394000-81396800	Weak transcription	NH-A	brain
30	chr14:81394000-81397000	Weak transcription	NHLF	lung
31	chr14:81394000-81407400	Weak transcription	Left Ventricle	heart
32	chr14:81394200-81396400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr14:81394200-81396800	Weak transcription	Osteobl	bone
34	chr14:81394200-81397200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr14:81394200-81397200	Weak transcription	NHDF-Ad	bronchial
36	chr14:81394400-81396400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr14:81394400-81396600	Weak transcription	HMEC	breast
38	chr14:81394400-81397000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr14:81394400-81397400	Weak transcription	Fetal Heart	heart
40	chr14:81394600-81396800	Weak transcription	NHEK	skin
41	chr14:81395000-81407400	Weak transcription	Fetal Intestine Large	intestine
42	chr14:81395800-81396400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
43	chr14:81395800-81399400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
44	chr14:81396000-81396400	ZNF genes & repeats	Aorta	Aorta
45	chr14:81396000-81396600	Genic enhancers	Dnd41	blood
46	chr14:81396000-81396800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr14:81396000-81397000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr14:81396000-81397200	Enhancers	Primary T cells fromperipheralblood	blood
49	chr14:81396000-81398600	Enhancers	Primary T helper naive cells from peripheral blood	blood
50	chr14:81396000-81398600	Enhancers	Primary T killer memory cells from peripheral blood	blood

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