Variant report

Variant	rs10150391
Chromosome Location	chr14:81394123-81394124
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:81389769..81391378-chr14:81393076..81395517,2	K562	blood:
2	chr14:81388857..81391378-chr14:81393034..81394576,2	K562	blood:

Extended variants
information (count: 97 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:94)

rs_ID	r²[population]
rs10129361	0.84[AFR][1000 genomes]
rs10130315	0.96[YRI][hapmap]
rs10130613	0.81[LWK][hapmap];0.92[YRI][hapmap]
rs10130687	0.88[AFR][1000 genomes]
rs10130858	0.84[AFR][1000 genomes]
rs10130908	0.87[YRI][hapmap]
rs10132220	0.88[CEU][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10132917	0.92[YRI][hapmap]
rs10133039	0.92[YRI][hapmap]
rs10133081	0.95[YRI][hapmap]
rs10133213	0.91[ASW][hapmap];0.92[YRI][hapmap];0.82[AFR][1000 genomes]
rs10133246	0.82[AFR][1000 genomes]
rs10134049	0.91[YRI][hapmap]
rs10134286	0.92[YRI][hapmap]
rs10137290	0.88[YRI][hapmap]
rs10137669	0.83[ASW][hapmap];0.82[LWK][hapmap];0.92[YRI][hapmap]
rs1013890	0.88[CEU][hapmap];0.90[TSI][hapmap];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10139039	0.91[YRI][hapmap]
rs10139628	0.92[YRI][hapmap]
rs10140915	0.88[CEU][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10141192	0.82[LWK][hapmap];0.92[YRI][hapmap]
rs10142758	0.96[YRI][hapmap];0.87[AFR][1000 genomes]
rs10144178	0.82[AFR][1000 genomes]
rs10145860	0.92[YRI][hapmap]
rs10146123	0.92[YRI][hapmap];0.81[AFR][1000 genomes]
rs10148517	0.92[YRI][hapmap];0.84[AFR][1000 genomes]
rs10149433	0.96[YRI][hapmap]
rs10151410	0.92[YRI][hapmap]
rs10151557	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1025252	0.93[ASN][1000 genomes]
rs10438029	0.92[YRI][hapmap];0.84[AFR][1000 genomes]
rs11844105	0.86[AFR][1000 genomes]
rs11844724	0.88[YRI][hapmap]
rs11845100	0.88[YRI][hapmap]
rs11845556	0.82[AFR][1000 genomes]
rs11845772	0.95[YRI][hapmap];0.88[AFR][1000 genomes]
rs11846509	0.82[AFR][1000 genomes]
rs11847064	0.81[AFR][1000 genomes]
rs11849246	0.89[YRI][hapmap]
rs11850467	0.96[YRI][hapmap];0.85[AFR][1000 genomes]
rs11851465	0.92[YRI][hapmap]
rs11851697	0.92[ASW][hapmap];0.85[LWK][hapmap];0.92[YRI][hapmap];0.83[AFR][1000 genomes]
rs12100564	0.86[ASN][1000 genomes]
rs12101029	0.86[ASN][1000 genomes]
rs12323870	0.87[AFR][1000 genomes]
rs17111059	0.96[YRI][hapmap]
rs17111220	0.96[YRI][hapmap];0.88[AFR][1000 genomes]
rs17111229	0.92[YRI][hapmap];0.81[AFR][1000 genomes]
rs17615156	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1863767	0.84[YRI][hapmap];0.84[AFR][1000 genomes]
rs2195102	0.96[YRI][hapmap];0.87[AFR][1000 genomes]
rs2217175	0.88[CEU][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2300520	0.86[CEU][hapmap]
rs28455637	1.00[EUR][1000 genomes]
rs28576038	0.83[AFR][1000 genomes]
rs28609268	0.84[AFR][1000 genomes]
rs28771783	0.84[AFR][1000 genomes]
rs28787628	1.00[ASN][1000 genomes]
rs28811052	0.84[AFR][1000 genomes]
rs28856091	0.84[AFR][1000 genomes]
rs34336276	0.82[AFR][1000 genomes]
rs34929621	0.88[AFR][1000 genomes]
rs56991751	0.86[ASN][1000 genomes]
rs57742095	0.86[ASN][1000 genomes]
rs60459982	0.86[AFR][1000 genomes]
rs60659347	0.86[ASN][1000 genomes]
rs7144634	1.00[CEU][hapmap];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7146496	0.91[ASW][hapmap];0.84[YRI][hapmap]
rs7146963	0.82[AFR][1000 genomes]
rs7152740	0.92[ASW][hapmap];0.92[YRI][hapmap];0.82[AFR][1000 genomes]
rs7152900	0.92[YRI][hapmap];0.82[AFR][1000 genomes]
rs7153324	0.92[ASW][hapmap];0.96[YRI][hapmap];0.85[AFR][1000 genomes]
rs7153585	0.85[AFR][1000 genomes]
rs7154345	0.92[YRI][hapmap]
rs7159966	0.82[AFR][1000 genomes]
rs7160694	1.00[CEU][hapmap];0.90[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73340189	0.86[ASN][1000 genomes]
rs73340195	0.86[ASN][1000 genomes]
rs73340197	0.86[ASN][1000 genomes]
rs73340199	0.86[ASN][1000 genomes]
rs73342124	0.86[ASN][1000 genomes]
rs73342126	0.86[ASN][1000 genomes]
rs73342192	0.86[ASN][1000 genomes]
rs73344010	0.86[ASN][1000 genomes]
rs73344013	0.86[ASN][1000 genomes]
rs74064754	0.82[AFR][1000 genomes]
rs74066925	0.84[AFR][1000 genomes]
rs8003193	1.00[ASN][1000 genomes]
rs8010968	0.83[ASW][hapmap];0.82[LWK][hapmap];0.92[YRI][hapmap];0.84[AFR][1000 genomes]
rs8015542	0.83[ASW][hapmap];0.82[LWK][hapmap];0.92[YRI][hapmap];0.84[AFR][1000 genomes]
rs8019256	0.88[YRI][hapmap]
rs8021757	1.00[ASN][1000 genomes]
rs9323695	0.92[ASW][hapmap];0.82[LWK][hapmap];0.96[YRI][hapmap];0.87[AFR][1000 genomes]
rs9805948	0.82[AFR][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:57 , 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	chr14:81359800-81396200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr14:81359800-81407200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr14:81364400-81395800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr14:81364400-81395800	Weak transcription	GM12878-XiMat	blood
8	chr14:81369600-81397200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr14:81375400-81407600	Weak transcription	Gastric	stomach
10	chr14:81379400-81407400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr14:81382600-81406400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr14:81382800-81396000	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr14:81382800-81396200	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr14:81382800-81396800	Weak transcription	Primary B cells from cord blood	blood
15	chr14:81382800-81397200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr14:81382800-81397200	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr14:81387800-81407200	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr14:81390000-81405000	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr14:81390000-81407200	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr14:81392000-81394200	Genic enhancers	Dnd41	blood
21	chr14:81392200-81394200	Strong transcription	Thymus	Thymus
22	chr14:81392200-81394400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr14:81392200-81407200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr14:81392400-81406600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr14:81392600-81394200	Enhancers	Fetal Muscle Trunk	muscle
26	chr14:81392600-81394200	Enhancers	Osteobl	bone
27	chr14:81392600-81394400	Enhancers	Fetal Heart	heart
28	chr14:81392600-81396400	Weak transcription	Spleen	Spleen
29	chr14:81392600-81407200	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr14:81392600-81407200	Weak transcription	Fetal Stomach	stomach
31	chr14:81392800-81394200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr14:81392800-81394200	Enhancers	NHDF-Ad	bronchial
33	chr14:81392800-81394400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
34	chr14:81392800-81396200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr14:81392800-81407400	Weak transcription	Esophagus	oesophagus
36	chr14:81393000-81395800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr14:81393000-81407600	Weak transcription	Lung	lung
38	chr14:81393200-81394200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr14:81393200-81394200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr14:81393400-81394200	Flanking Active TSS	HSMM	muscle
41	chr14:81393600-81394400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr14:81393600-81394400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr14:81393600-81394600	Enhancers	NHEK	skin
44	chr14:81393600-81396200	Weak transcription	Primary neutrophils fromperipheralblood	blood
45	chr14:81393600-81397400	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr14:81393600-81399400	Weak transcription	Right Atrium	heart
47	chr14:81393600-81407200	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr14:81393800-81394400	Enhancers	HMEC	breast
49	chr14:81393800-81396600	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr14:81393800-81397000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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