Variant report

Variant	rs2395614
Chromosome Location	chr6:35202883-35202884
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:35195154..35200305-chr6:35202213..35207133,5	K562	blood:
2	chr6:35132585..35134492-chr6:35202340..35203841,2	MCF-7	breast:
3	chr6:34938891..34940598-chr6:35202108..35204116,2	K562	blood:
4	chr6:35196232..35199243-chr6:35200230..35204307,5	K562	blood:
5	chr6:35202209..35206634-chr6:35208195..35211678,7	K562	blood:

Extended variants
information (count: 128 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:125)

rs_ID	r²[population]
rs10080361	1.00[CEU][hapmap];0.84[CHB][hapmap];0.95[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10080411	0.85[ASN][1000 genomes]
rs1013907	0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10755687	0.94[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10807150	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10947540	1.00[CEU][hapmap];0.83[CHB][hapmap];0.81[JPT][hapmap];0.90[YRI][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10947542	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1108709	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1194	0.83[CHB][hapmap];0.81[JPT][hapmap];0.88[ASN][1000 genomes]
rs12211943	0.89[ASN][1000 genomes]
rs13197551	0.82[ASN][1000 genomes]
rs13214290	1.00[CEU][hapmap];0.83[CHB][hapmap];0.81[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1557567	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1557568	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1590381	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1888822	1.00[CEU][hapmap];0.95[YRI][hapmap];0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1888823	0.83[CHB][hapmap];0.81[JPT][hapmap];0.88[ASN][1000 genomes]
rs1888824	1.00[CEU][hapmap];0.83[CHB][hapmap];0.81[JPT][hapmap];0.90[YRI][hapmap];0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1888825	1.00[CEU][hapmap];0.83[CHB][hapmap];0.81[JPT][hapmap];0.95[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1894650	1.00[CEU][hapmap];0.84[CHB][hapmap];0.82[JPT][hapmap];0.91[YRI][hapmap];0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1894651	1.00[CEU][hapmap];0.83[CHB][hapmap];0.82[JPT][hapmap];0.82[YRI][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1894652	0.83[ASN][1000 genomes]
rs1894653	0.82[JPT][hapmap];0.83[ASN][1000 genomes]
rs1929847	0.83[CHB][hapmap];0.81[JPT][hapmap];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1929849	0.83[CHB][hapmap];0.81[JPT][hapmap];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1987673	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2006184	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2018373	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2032538	0.82[JPT][hapmap]
rs2071920	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2183834	0.81[ASN][1000 genomes]
rs2267657	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2267658	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2267660	0.81[JPT][hapmap];0.84[ASN][1000 genomes]
rs2267661	0.84[ASN][1000 genomes]
rs2267662	0.83[CHB][hapmap];0.81[JPT][hapmap];0.88[ASN][1000 genomes]
rs2267663	1.00[CEU][hapmap];0.84[CHB][hapmap];0.82[JPT][hapmap];0.86[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2267664	0.82[JPT][hapmap]
rs2284195	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2284196	0.83[ASN][1000 genomes]
rs2395621	0.86[ASN][1000 genomes]
rs34156110	0.84[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs3777742	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3777743	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3777744	1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs3798342	0.82[JPT][hapmap];0.84[ASN][1000 genomes]
rs3800382	0.82[JPT][hapmap];0.84[ASN][1000 genomes]
rs3800383	0.81[JPT][hapmap];0.85[ASN][1000 genomes]
rs3800385	1.00[CEU][hapmap];0.83[CHB][hapmap];0.81[JPT][hapmap];0.95[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3800386	0.81[JPT][hapmap];0.84[ASN][1000 genomes]
rs3800387	0.81[JPT][hapmap];0.84[ASN][1000 genomes]
rs3800388	0.81[JPT][hapmap];0.84[ASN][1000 genomes]
rs3800392	0.82[JPT][hapmap];0.88[ASN][1000 genomes]
rs3800393	1.00[CEU][hapmap];0.95[JPT][hapmap];0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3800396	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3800398	0.81[ASN][1000 genomes]
rs3800399	0.82[ASN][1000 genomes]
rs3800401	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4711409	0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4711411	1.00[CEU][hapmap];0.83[CHB][hapmap];0.81[JPT][hapmap];0.95[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4711413	0.82[JPT][hapmap];0.83[ASN][1000 genomes]
rs4711414	0.88[ASN][1000 genomes]
rs4713841	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4713845	1.00[CEU][hapmap];0.84[CHB][hapmap];0.82[JPT][hapmap];0.95[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4713847	0.81[ASN][1000 genomes]
rs4713848	0.81[JPT][hapmap];0.82[ASN][1000 genomes]
rs4713850	0.89[ASN][1000 genomes]
rs4713853	0.86[ASN][1000 genomes]
rs58925593	0.84[ASN][1000 genomes]
rs62403575	0.88[ASN][1000 genomes]
rs6457812	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs68164647	0.82[ASN][1000 genomes]
rs6902523	0.84[CHB][hapmap];0.82[JPT][hapmap];0.88[ASN][1000 genomes]
rs6906987	0.92[ASN][1000 genomes]
rs6907324	0.88[ASN][1000 genomes]
rs6907364	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6907573	0.81[ASN][1000 genomes]
rs6907795	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6913037	1.00[CEU][hapmap];0.84[CHB][hapmap];0.82[JPT][hapmap];0.87[YRI][hapmap];0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6913475	0.92[ASN][1000 genomes]
rs6913941	0.82[ASN][1000 genomes]
rs6916364	0.82[ASN][1000 genomes]
rs6920432	0.92[ASN][1000 genomes]
rs6920747	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6927730	0.82[ASN][1000 genomes]
rs6928769	0.88[ASN][1000 genomes]
rs6930562	0.89[ASN][1000 genomes]
rs6938946	0.81[JPT][hapmap];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6940375	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6941471	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72909061	0.88[ASN][1000 genomes]
rs7757316	0.92[ASN][1000 genomes]
rs7758192	0.81[ASN][1000 genomes]
rs7763946	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7769906	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7772212	0.88[ASN][1000 genomes]
rs7772302	0.91[ASN][1000 genomes]
rs8205	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs914547	1.00[CEU][hapmap];0.83[CHB][hapmap];0.81[JPT][hapmap];0.95[YRI][hapmap];0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9296144	0.84[CHB][hapmap];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9348970	0.89[CEU][hapmap];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9366882	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9366883	1.00[CEU][hapmap];0.84[CHB][hapmap];0.82[JPT][hapmap];0.91[YRI][hapmap];0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9368854	0.81[JPT][hapmap];0.84[ASN][1000 genomes]
rs9368857	0.82[JPT][hapmap];0.84[ASN][1000 genomes]
rs9380497	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9380498	0.82[ASN][1000 genomes]
rs9380500	0.89[CEU][hapmap];0.89[CHB][hapmap];0.82[JPT][hapmap]
rs9380501	0.84[CHB][hapmap];0.82[JPT][hapmap];0.88[ASN][1000 genomes]
rs9394283	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9394288	1.00[CEU][hapmap];0.84[CHB][hapmap];0.82[JPT][hapmap];0.95[YRI][hapmap]
rs9394289	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9462065	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9469958	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9469964	1.00[CEU][hapmap];0.83[CHB][hapmap];0.81[JPT][hapmap];0.95[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9469972	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9469975	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9469979	0.86[ASN][1000 genomes]
rs9469982	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9469997	0.89[ASN][1000 genomes]
rs9469998	0.92[ASN][1000 genomes]
rs965272	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs968828	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs975496	0.84[CHB][hapmap];0.82[JPT][hapmap];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs991145	0.87[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	esv3428128	chr6:35150524-35225843	Bivalent Enhancer Enhancers Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	esv2758047	chr6:35168116-35291002	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	esv2759419	chr6:35168116-35291002	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2395614	DEF6	cis	Whole Blood	GTEx

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:35182400-35209000	Weak transcription	A549	lung
2	chr6:35184800-35205600	Weak transcription	Fetal Brain Female	brain
3	chr6:35186400-35212000	Weak transcription	NHDF-Ad	bronchial
4	chr6:35186600-35204600	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr6:35186600-35205400	Weak transcription	Fetal Muscle Trunk	muscle
6	chr6:35186800-35212000	Weak transcription	Dnd41	blood
7	chr6:35188200-35205800	Weak transcription	Fetal Kidney	kidney
8	chr6:35188200-35206400	Weak transcription	NH-A	brain
9	chr6:35189600-35205800	Weak transcription	Brain Germinal Matrix	brain
10	chr6:35190000-35205600	Weak transcription	Fetal Muscle Leg	muscle
11	chr6:35190200-35212000	Weak transcription	Brain Angular Gyrus	brain
12	chr6:35191200-35212000	Weak transcription	Primary T cells from cord blood	blood
13	chr6:35191400-35226000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr6:35192200-35211400	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr6:35194000-35209400	Weak transcription	Thymus	Thymus
16	chr6:35194000-35225600	Weak transcription	Primary B cells from cord blood	blood
17	chr6:35195600-35210600	Weak transcription	Spleen	Spleen
18	chr6:35197000-35205600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr6:35199200-35211800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr6:35199200-35212200	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr6:35199400-35208800	Weak transcription	Brain Cingulate Gyrus	brain
22	chr6:35199400-35209200	Weak transcription	Adipose Nuclei	Adipose
23	chr6:35199400-35211800	Weak transcription	Brain Hippocampus Middle	brain
24	chr6:35199400-35212000	Weak transcription	Brain Anterior Caudate	brain
25	chr6:35199400-35216200	Weak transcription	Brain Substantia Nigra	brain
26	chr6:35199600-35203000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr6:35199600-35203000	Strong transcription	Fetal Stomach	stomach
28	chr6:35199600-35204000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr6:35199600-35205400	Weak transcription	Rectal Smooth Muscle	rectum
30	chr6:35199600-35209800	Weak transcription	Gastric	stomach
31	chr6:35199600-35210400	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr6:35199600-35211200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr6:35199600-35215600	Weak transcription	Hela-S3	cervix
34	chr6:35199600-35226600	Weak transcription	Esophagus	oesophagus
35	chr6:35199800-35205600	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr6:35199800-35205600	Weak transcription	Right Atrium	heart
37	chr6:35199800-35205600	Weak transcription	Stomach Smooth Muscle	stomach
38	chr6:35199800-35206200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr6:35199800-35206800	Weak transcription	Ovary	ovary
40	chr6:35199800-35212200	Weak transcription	HepG2	liver
41	chr6:35199800-35226200	Weak transcription	Pancreas	Pancrea
42	chr6:35200000-35204200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr6:35200000-35206000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr6:35200200-35204000	Weak transcription	Left Ventricle	heart
45	chr6:35200400-35205400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr6:35200400-35205600	Strong transcription	Osteobl	bone
47	chr6:35200600-35225000	Weak transcription	Fetal Brain Male	brain
48	chr6:35201200-35205800	Strong transcription	Aorta	Aorta
49	chr6:35201400-35226200	Weak transcription	Stomach Mucosa	stomach
50	chr6:35201600-35211800	Weak transcription	Muscle Satellite Cultured Cells	--

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