Variant report

Variant	rs11006114
Chromosome Location	chr10:52313802-52313803
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:52312834..52315276-chr10:52353928..52355843,2	K562	blood:
2	chr10:52311750..52313842-chr10:52375196..52377045,2	K562	blood:
3	chr10:52313061..52318898-chr10:52381919..52385253,10	MCF-7	breast:
4	chr10:52313414..52314977-chr10:52382668..52385020,2	MCF-7	breast:
5	chr10:52285750..52287890-chr10:52311522..52314222,2	MCF-7	breast:
6	chr10:52313474..52316249-chr10:52319945..52321727,3	K562	blood:
7	chr10:52311229..52315083-chr10:52335257..52337670,4	K562	blood:
8	chr10:52308481..52311283-chr10:52312051..52314747,2	MCF-7	breast:
9	chr10:52310207..52315512-chr10:52382852..52386021,4	K562	blood:
10	chr10:52303296..52304994-chr10:52312451..52315128,2	MCF-7	breast:
11	chr10:52313546..52319488-chr10:52380502..52386285,13	K562	blood:
12	chr10:52310270..52314455-chr10:52315610..52319835,4	MCF-7	breast:
13	chr10:52313555..52316104-chr10:52337795..52339466,2	K562	blood:
14	chr10:52310656..52316983-chr10:52334408..52339466,9	K562	blood:

No data

Variant related genes	Relation type
ENSG00000226200	Chromatin interaction
ENSG00000198964	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs1010930	1.00[ASN][1000 genomes]
rs10763535	0.94[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10763550	0.95[CHB][hapmap];0.84[CHD][hapmap];0.86[JPT][hapmap];0.93[ASN][1000 genomes]
rs10763560	0.89[CHB][hapmap];0.85[JPT][hapmap];0.89[ASN][1000 genomes]
rs10763566	0.95[CHB][hapmap];0.87[CHD][hapmap];0.86[JPT][hapmap];0.91[LWK][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs10826149	0.95[CHB][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs10826155	0.98[ASN][1000 genomes]
rs10826159	0.99[ASN][1000 genomes]
rs10826160	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10826161	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.94[MKK][hapmap];0.93[TSI][hapmap];0.90[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10826163	1.00[ASN][1000 genomes]
rs10826164	1.00[ASN][1000 genomes]
rs10826165	1.00[ASN][1000 genomes]
rs10826166	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10826167	0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10826169	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10826170	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10826228	0.89[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs11005579	0.92[CEU][hapmap]
rs11006054	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11006075	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11006084	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.94[MKK][hapmap];0.96[TSI][hapmap];0.90[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11006118	1.00[CEU][hapmap];0.95[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];1.00[ASN][1000 genomes]
rs11006141	0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];1.00[ASN][1000 genomes]
rs11006160	0.89[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs11006201	0.87[ASN][1000 genomes]
rs11006217	0.90[CHB][hapmap];0.87[CHD][hapmap];0.86[JPT][hapmap];0.90[ASN][1000 genomes]
rs12219692	0.94[CEU][hapmap];0.96[TSI][hapmap];0.90[EUR][1000 genomes]
rs12415817	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.94[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12415836	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12572387	0.95[CHB][hapmap];0.86[JPT][hapmap];0.90[ASN][1000 genomes]
rs1884570	1.00[ASN][1000 genomes]
rs2024872	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2144861	0.86[ASW][hapmap];1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];0.94[MKK][hapmap];0.93[TSI][hapmap];0.90[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2224249	0.90[CHB][hapmap];0.87[CHD][hapmap];0.86[JPT][hapmap];0.93[ASN][1000 genomes]
rs3011777	0.91[CHB][hapmap];0.87[CHD][hapmap];0.91[JPT][hapmap];0.88[ASN][1000 genomes]
rs34659292	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36122110	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4935173	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4935174	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.88[MKK][hapmap];0.96[TSI][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4935733	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7074764	0.95[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs7078284	0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs7088141	0.95[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs7094143	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7893884	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7900424	0.90[CHB][hapmap];0.86[JPT][hapmap];0.90[ASN][1000 genomes]
rs7902354	0.81[ASN][1000 genomes]
rs7907260	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7915606	0.90[CHB][hapmap];0.81[JPT][hapmap];0.89[ASN][1000 genomes]
rs7916397	0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];1.00[ASN][1000 genomes]
rs9299582	0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];1.00[ASN][1000 genomes]
rs9919413	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054775	chr10:51595893-52392361	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv1051087	chr10:51886486-52447295	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv916214	chr10:51886486-52458983	Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv918212	chr10:51886486-52465482	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv817412	chr10:51911034-52432990	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
6	nsv469522	chr10:52276564-52447589	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
7	nsv482564	chr10:52276564-52447589	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:52280200-52328000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr10:52299600-52320600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr10:52300800-52322800	Weak transcription	Primary B cells from cord blood	blood
4	chr10:52301600-52327200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr10:52303400-52314000	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr10:52305400-52329600	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr10:52306000-52314200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr10:52306000-52316000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr10:52306000-52319000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr10:52306000-52321400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr10:52306000-52322000	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr10:52306000-52331800	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr10:52308000-52337200	Weak transcription	Primary T cells from cord blood	blood
14	chr10:52309600-52316400	Enhancers	Brain Substantia Nigra	brain
15	chr10:52310400-52314200	Weak transcription	Colonic Mucosa	Colon
16	chr10:52310400-52314800	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr10:52310400-52316000	Weak transcription	Lung	lung
18	chr10:52310400-52323800	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr10:52310600-52314200	Weak transcription	Placenta	Placenta
20	chr10:52310600-52314600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr10:52310600-52314600	Weak transcription	Fetal Intestine Large	intestine
22	chr10:52310600-52316000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr10:52310600-52323600	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr10:52310600-52327200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr10:52311000-52314600	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr10:52311000-52315200	Weak transcription	Spleen	Spleen
27	chr10:52311000-52323600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr10:52311000-52335800	Weak transcription	Esophagus	oesophagus
29	chr10:52311200-52314200	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr10:52311600-52316800	Enhancers	Brain Inferior Temporal Lobe	brain
31	chr10:52311800-52315000	Enhancers	Fetal Heart	heart
32	chr10:52312000-52316600	Enhancers	Brain Angular Gyrus	brain
33	chr10:52312000-52317000	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr10:52312400-52314200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr10:52312400-52315000	Enhancers	Aorta	Aorta
36	chr10:52312600-52314200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr10:52312600-52314200	Weak transcription	Fetal Stomach	stomach
38	chr10:52312600-52315000	Enhancers	Pancreatic Islets	Pancreatic Islet
39	chr10:52312600-52321000	Weak transcription	NH-A	brain
40	chr10:52312800-52314200	Weak transcription	Psoas Muscle	Psoas
41	chr10:52312800-52314200	Weak transcription	Stomach Smooth Muscle	stomach
42	chr10:52312800-52314400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr10:52312800-52314600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr10:52312800-52314600	Weak transcription	Adipose Nuclei	Adipose
45	chr10:52312800-52314600	Weak transcription	Fetal Lung	lung
46	chr10:52312800-52314600	Weak transcription	Rectal Smooth Muscle	rectum
47	chr10:52312800-52314600	Weak transcription	Small Intestine	intestine
48	chr10:52312800-52314800	Weak transcription	Liver	Liver
49	chr10:52312800-52314800	Weak transcription	HSMMtube	muscle
50	chr10:52312800-52315800	Weak transcription	Gastric	stomach

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