Variant report

Variant	rs11256084
Chromosome Location	chr10:5991012-5991013
allele	A/C/T
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	CTCF	chr10:5991008-5991914	SK-N-SH	brain:	n/a	chr10:5991520-5991533 chr10:5991517-5991535 chr10:5991519-5991540
2	CTCF	chr10:5990960-5991110	HAc	cerebellar:	n/a	n/a
3	SMC3	chr10:5990960-5991746	SK-N-SH	brain:	n/a	chr10:5991519-5991533

No.	Distal block	Cell Line	Cell type
1	chr10:5990354..5995622-chr10:5995920..5999201,5	K562	blood:
2	chr10:5990985..5991988-chr10:6130223..6131247,10	MCF-7	breast:
3	chr10:5939649..5941225-chr10:5989883..5992234,2	K562	blood:
4	chr10:5985856..5987611-chr10:5988496..5991234,3	MCF-7	breast:
5	chr10:5989821..5991539-chr10:6018403..6020681,2	K562	blood:
6	chr10:5984591..5988686-chr10:5988894..5992544,7	K562	blood:
7	chr10:5989956..5992990-chr10:6129342..6133621,4	MCF-7	breast:
8	chr10:5989579..5992507-chr10:5992737..5995204,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000232807	TF binding region
ENSG00000134453	Chromatin interaction
ENSG00000134470	Chromatin interaction
ENSG00000232807	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs11256083	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11256085	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11256090	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11256094	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11256096	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12242015	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12242172	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12245981	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12248076	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12250688	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12258180	0.93[AFR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28686883	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3136628	0.93[AFR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3136629	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3750660	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs41293979	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41293999	0.86[AFR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41294001	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41294003	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41294005	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41294007	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41294017	0.82[EUR][1000 genomes]
rs41294025	0.96[AFR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41294027	0.89[AFR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41294039	0.93[AFR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7923984	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8177726	0.93[AFR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8177732	0.93[AFR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8177741	0.92[AFR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8177742	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8177778	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34147	chr10:5726821-6105717	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	esv34061	chr10:5726821-6225187	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv1042286	chr10:5795129-6578445	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
4	nsv831775	chr10:5804335-6000849	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv1041261	chr10:5962635-6052196	Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv1050983	chr10:5963921-6052196	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:5969600-6012000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr10:5971400-6013200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr10:5980000-6013200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr10:5980800-5994600	Weak transcription	Gastric	stomach
5	chr10:5980800-6017800	Weak transcription	Thymus	Thymus
6	chr10:5981000-6003600	Weak transcription	Primary T cells from cord blood	blood
7	chr10:5982800-5995000	Weak transcription	GM12878-XiMat	blood
8	chr10:5986200-5991400	Weak transcription	Right Ventricle	heart
9	chr10:5986200-6018600	Weak transcription	Aorta	Aorta
10	chr10:5986800-5995600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr10:5987000-5994600	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr10:5987600-5992400	Weak transcription	Brain Angular Gyrus	brain
13	chr10:5987600-6018000	Weak transcription	Psoas Muscle	Psoas
14	chr10:5987800-5992400	Weak transcription	Esophagus	oesophagus
15	chr10:5987800-5993600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr10:5987800-6017800	Weak transcription	Fetal Thymus	thymus
17	chr10:5988000-5994000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr10:5988000-5995000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr10:5988000-6000800	Weak transcription	Colonic Mucosa	Colon
20	chr10:5988000-6001400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr10:5988200-5991200	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr10:5988200-5991200	Weak transcription	Brain Cingulate Gyrus	brain
23	chr10:5988200-5992200	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr10:5988200-5993600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr10:5988200-5994200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr10:5988200-5994600	Weak transcription	Primary B cells from peripheral blood	blood
27	chr10:5988200-5998600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr10:5988200-6001800	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr10:5988400-5991200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr10:5988400-5991200	Weak transcription	Stomach Mucosa	stomach
31	chr10:5988400-5991400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr10:5988400-5992000	Weak transcription	Hela-S3	cervix
33	chr10:5988400-5992200	Weak transcription	NH-A	brain
34	chr10:5988400-5992400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr10:5988400-5992400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr10:5988400-5992400	Weak transcription	Osteobl	bone
37	chr10:5988400-5992600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr10:5988400-5992800	Weak transcription	Primary neutrophils fromperipheralblood	blood
39	chr10:5988400-5993200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr10:5988400-5994000	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr10:5988400-5994000	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr10:5988400-5994000	Weak transcription	Duodenum Mucosa	Duodenum
43	chr10:5988400-5994400	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr10:5988400-6001200	Weak transcription	Ovary	ovary
45	chr10:5988400-6001600	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr10:5988600-5991200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr10:5988600-5992200	Weak transcription	HMEC	breast
48	chr10:5988600-5992400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr10:5988600-5992400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr10:5988600-5992400	Weak transcription	NHDF-Ad	bronchial

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