Variant report

Variant	rs1894653
Chromosome Location	chr6:35264219-35264220
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:35263945-35264306	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr6:35263796-35266073	K562	blood:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:35257372..35267692-chr6:35433856..35438688,25	K562	blood:
2	chr6:35264065..35266185-chr6:35435418..35437067,2	MCF-7	breast:
3	chr6:35260730..35269335-chr6:35433870..35444063,22	MCF-7	breast:
4	chr6:35261657..35264844-chr6:35438190..35440165,4	MCF-7	breast:
5	chr6:35261055..35266113-chr6:35308586..35312212,6	K562	blood:
6	chr6:35262981..35267829-chr6:35418945..35424124,7	K562	blood:
7	chr6:35257372..35267871-chr6:35433266..35439192,25	K562	blood:
8	chr6:35232808..35235084-chr6:35262223..35264911,2	K562	blood:
9	chr6:35260793..35263953-chr6:35263989..35266366,4	K562	blood:
10	chr6:35263661..35265616-chr6:35463054..35466039,2	MCF-7	breast:

No data

Variant related genes	Relation type
DEF6	TF binding region
ENSG00000065029	Chromatin interaction
ENSG00000112039	Chromatin interaction
ENSG00000198755	Chromatin interaction
ENSG00000007866	Chromatin interaction
ENSG00000112033	Chromatin interaction

Extended variants
information (count: 133 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:131)

rs_ID	r²[population]
rs10080361	0.94[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs1013907	0.93[ASN][1000 genomes]
rs10755687	0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs10807150	0.82[JPT][hapmap];0.85[ASN][1000 genomes]
rs10947540	0.94[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs1108709	0.83[ASN][1000 genomes]
rs1194	0.94[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs12173347	1.00[CEU][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12173582	1.00[CEU][hapmap];0.95[JPT][hapmap];0.81[AFR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12211765	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12211943	0.83[ASN][1000 genomes]
rs13214290	0.94[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs1557567	0.82[JPT][hapmap];0.85[ASN][1000 genomes]
rs1557568	0.82[JPT][hapmap];0.85[ASN][1000 genomes]
rs1590381	0.81[ASN][1000 genomes]
rs16872484	0.82[AFR][1000 genomes]
rs1888822	0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs1888823	0.94[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs1888824	0.94[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs1888825	0.94[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs1894650	0.94[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs1894651	0.83[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs1894652	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1929847	0.94[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs1929849	0.94[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs1987673	0.82[JPT][hapmap];0.83[ASN][1000 genomes]
rs2006184	0.89[ASN][1000 genomes]
rs2018373	0.87[ASN][1000 genomes]
rs2032538	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2071920	0.82[JPT][hapmap];0.85[ASN][1000 genomes]
rs2183834	0.88[ASN][1000 genomes]
rs2267657	0.82[JPT][hapmap];0.83[ASN][1000 genomes]
rs2267658	0.93[ASN][1000 genomes]
rs2267660	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2267661	0.95[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2267662	0.94[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2267663	0.94[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2267664	1.00[CEU][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2284195	0.94[ASN][1000 genomes]
rs2395614	0.82[JPT][hapmap];0.83[ASN][1000 genomes]
rs2395621	0.81[ASN][1000 genomes]
rs3756855	0.82[AFR][1000 genomes]
rs3777742	0.82[ASN][1000 genomes]
rs3777743	0.82[ASN][1000 genomes]
rs3777744	0.82[JPT][hapmap]
rs3798342	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3798343	0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs3800382	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3800383	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3800385	0.94[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs3800386	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3800387	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3800388	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3800392	0.87[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs3800393	0.82[ASN][1000 genomes]
rs3800396	0.85[ASN][1000 genomes]
rs3800398	0.85[ASN][1000 genomes]
rs3800399	0.86[ASN][1000 genomes]
rs3800400	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4583983	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4711409	0.93[ASN][1000 genomes]
rs4711411	0.94[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs4711413	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4711414	0.94[ASN][1000 genomes]
rs4713841	0.85[ASN][1000 genomes]
rs4713845	0.94[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs4713847	0.81[ASN][1000 genomes]
rs4713848	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4713850	0.83[ASN][1000 genomes]
rs58925593	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62403575	0.94[ASN][1000 genomes]
rs6457812	0.83[JPT][hapmap];0.85[ASN][1000 genomes]
rs68164647	0.86[ASN][1000 genomes]
rs6902523	0.94[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs6907324	0.94[ASN][1000 genomes]
rs6907573	0.88[ASN][1000 genomes]
rs6907795	0.85[ASN][1000 genomes]
rs6913037	0.94[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs6913475	0.81[ASN][1000 genomes]
rs6913941	0.86[ASN][1000 genomes]
rs6916364	0.86[ASN][1000 genomes]
rs6920432	0.81[ASN][1000 genomes]
rs6920747	0.94[ASN][1000 genomes]
rs6927730	0.86[ASN][1000 genomes]
rs6928769	0.93[ASN][1000 genomes]
rs6930562	0.82[ASN][1000 genomes]
rs6938946	0.88[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs6941471	0.83[ASN][1000 genomes]
rs72909061	0.93[ASN][1000 genomes]
rs7757316	0.81[ASN][1000 genomes]
rs7763946	0.92[ASN][1000 genomes]
rs7769906	0.94[ASN][1000 genomes]
rs7772212	0.94[ASN][1000 genomes]
rs8205	0.81[JPT][hapmap];0.85[ASN][1000 genomes]
rs914547	0.94[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs9296144	0.94[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs9296150	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9348974	0.89[EUR][1000 genomes]
rs9366882	0.83[JPT][hapmap];0.85[ASN][1000 genomes]
rs9366883	0.94[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs9366885	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9368852	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9368853	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9368854	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9368857	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9368859	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9368860	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9368865	0.89[EUR][1000 genomes]
rs9380491	1.00[CEU][hapmap]
rs9380498	0.86[ASN][1000 genomes]
rs9380500	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs9380501	0.94[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs9380502	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9380505	0.89[EUR][1000 genomes]
rs9380507	0.89[EUR][1000 genomes]
rs9394283	0.92[ASN][1000 genomes]
rs9394288	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs9394289	0.94[ASN][1000 genomes]
rs9462065	0.83[JPT][hapmap];0.82[ASN][1000 genomes]
rs9462072	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9469964	0.94[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs9469972	0.82[JPT][hapmap];0.85[ASN][1000 genomes]
rs9469975	0.84[ASN][1000 genomes]
rs9469979	0.93[ASN][1000 genomes]
rs9469982	0.82[JPT][hapmap];0.85[ASN][1000 genomes]
rs9469997	0.83[ASN][1000 genomes]
rs9469998	0.81[ASN][1000 genomes]
rs965272	0.82[CHB][hapmap];0.82[JPT][hapmap];0.85[ASN][1000 genomes]
rs968828	0.83[ASN][1000 genomes]
rs975496	0.94[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs991145	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
rs1894653	DEF6	cis	multi-tissue	Pritchard

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:35232600-35265200	Weak transcription	Stomach Mucosa	stomach
2	chr6:35237800-35264800	Weak transcription	K562	blood
3	chr6:35243400-35265000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr6:35247800-35264600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr6:35248000-35264800	Strong transcription	Stomach Smooth Muscle	stomach
6	chr6:35248400-35264400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr6:35248600-35264400	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr6:35248800-35264400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
9	chr6:35248800-35264400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr6:35248800-35264400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr6:35248800-35264400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr6:35248800-35264600	Strong transcription	Primary T cells from cord blood	blood
13	chr6:35248800-35264600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr6:35248800-35264800	Strong transcription	Primary T helper cells fromperipheralblood	blood
15	chr6:35248800-35264800	Strong transcription	Thymus	Thymus
16	chr6:35248800-35265000	Strong transcription	Fetal Intestine Small	intestine
17	chr6:35248800-35265000	Strong transcription	Fetal Stomach	stomach
18	chr6:35248800-35265400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr6:35248800-35265800	Strong transcription	Brain Inferior Temporal Lobe	brain
20	chr6:35249000-35264600	Strong transcription	Brain Anterior Caudate	brain
21	chr6:35249000-35264600	Strong transcription	Brain Cingulate Gyrus	brain
22	chr6:35249000-35264600	Strong transcription	Fetal Intestine Large	intestine
23	chr6:35249000-35265000	Strong transcription	Liver	Liver
24	chr6:35249000-35265200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr6:35249000-35265200	Strong transcription	Osteobl	bone
26	chr6:35249000-35265400	Weak transcription	Right Atrium	heart
27	chr6:35249000-35266800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr6:35249200-35264400	Strong transcription	Placenta	Placenta
29	chr6:35249200-35265400	Strong transcription	Fetal Brain Female	brain
30	chr6:35251000-35264400	Strong transcription	Adipose Nuclei	Adipose
31	chr6:35251000-35266800	Weak transcription	Fetal Brain Male	brain
32	chr6:35251400-35265000	Weak transcription	HUVEC	blood vessel
33	chr6:35252800-35264400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr6:35252800-35264600	Strong transcription	Brain Hippocampus Middle	brain
35	chr6:35252800-35265000	Strong transcription	Cortex derived primary cultured neurospheres	brain
36	chr6:35253200-35264600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr6:35253200-35265200	Strong transcription	Brain Substantia Nigra	brain
38	chr6:35253400-35264400	Strong transcription	Ovary	ovary
39	chr6:35253400-35264600	Strong transcription	Rectal Mucosa Donor 31	rectum
40	chr6:35253600-35265200	Strong transcription	Brain Germinal Matrix	brain
41	chr6:35253800-35264600	Strong transcription	Spleen	Spleen
42	chr6:35254400-35264400	Strong transcription	Lung	lung
43	chr6:35254600-35265000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr6:35255400-35265000	Weak transcription	NH-A	brain
45	chr6:35255600-35264400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr6:35255800-35264400	Strong transcription	Fetal Muscle Trunk	muscle
47	chr6:35256200-35264400	Strong transcription	Fetal Muscle Leg	muscle
48	chr6:35256400-35264400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr6:35256400-35264800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr6:35256400-35265200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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