Variant report

Variant	rs11195357
Chromosome Location	chr10:112619555-112619556
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:112598132..112600634-chr10:112617601..112619746,2	MCF-7	breast:
2	chr10:112612328..112615188-chr10:112618146..112620341,2	MCF-7	breast:
3	chr10:112608440..112622028-chr10:112627331..112635995,26	MCF-7	breast:
4	chr10:112619161..112621950-chr10:112630112..112633411,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BBIP1-4	chr10:112618638-112620652	l_375_NR_026932

Variant related genes	Relation type
ENSG00000150593	Chromatin interaction
ENSG00000232470	Chromatin interaction
ENSG00000203497	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs11195367	0.86[AMR][1000 genomes]
rs11195378	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11195384	0.83[CHB][hapmap];0.83[JPT][hapmap];0.88[YRI][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11195386	0.88[JPT][hapmap];0.88[YRI][hapmap]
rs11195389	0.88[JPT][hapmap];0.88[YRI][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11195392	0.81[JPT][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11195393	0.88[YRI][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12240492	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs12245003	0.88[JPT][hapmap];0.88[YRI][hapmap]
rs12248431	0.83[JPT][hapmap];0.88[YRI][hapmap];0.87[EUR][1000 genomes]
rs12248632	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12248739	1.00[ASW][hapmap];0.89[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap];0.90[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs12249906	0.88[YRI][hapmap]
rs12255335	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs12256152	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12258923	1.00[ASW][hapmap];0.89[CHB][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12266042	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12267661	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12268160	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12268606	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1327552	1.00[ASW][hapmap];0.92[GIH][hapmap];0.88[JPT][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap]
rs1341055	0.86[ASW][hapmap];0.93[GIH][hapmap];0.91[MEX][hapmap];0.92[AMR][1000 genomes]
rs1410052	1.00[ASW][hapmap];0.83[CHB][hapmap];0.93[GIH][hapmap];0.88[JPT][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap];0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1538998	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17128099	0.88[YRI][hapmap];0.97[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs17128102	1.00[ASW][hapmap];0.80[CHB][hapmap];0.93[GIH][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs17128270	0.83[JPT][hapmap];0.88[YRI][hapmap];0.87[EUR][1000 genomes]
rs3750621	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3750622	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3763691	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4917593	1.00[ASW][hapmap];0.82[CHD][hapmap];0.93[GIH][hapmap];0.83[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.87[EUR][1000 genomes]
rs4918610	0.83[CHB][hapmap];0.88[JPT][hapmap];0.88[YRI][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs55879225	0.87[EUR][1000 genomes]
rs56005122	0.87[EUR][1000 genomes]
rs56302131	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56350255	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9804245	0.86[ASW][hapmap];0.83[CHB][hapmap];0.93[GIH][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045608	chr10:112524813-112677557	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1041758	chr10:112552897-112677557	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv896003	chr10:112579299-112631211	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv896002	chr10:112579299-112638028	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv1051566	chr10:112580049-112730573	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:112602400-112620600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr10:112611200-112619600	Weak transcription	Osteobl	bone
3	chr10:112611200-112630600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr10:112614800-112624400	Weak transcription	Aorta	Aorta
5	chr10:112617000-112619600	Enhancers	Lung	lung
6	chr10:112617000-112620200	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr10:112617000-112620400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr10:112617000-112620600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
9	chr10:112617000-112620600	Enhancers	Duodenum Smooth Muscle	Duodenum
10	chr10:112617000-112620600	Enhancers	Fetal Lung	lung
11	chr10:112617000-112621000	Enhancers	Brain Cingulate Gyrus	brain
12	chr10:112617000-112621000	Enhancers	Right Atrium	heart
13	chr10:112617000-112621200	Enhancers	Adipose Nuclei	Adipose
14	chr10:112617000-112621200	Enhancers	Liver	Liver
15	chr10:112617000-112621200	Enhancers	Esophagus	oesophagus
16	chr10:112617000-112621200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr10:112617000-112621200	Enhancers	Sigmoid Colon	Sigmoid Colon
18	chr10:112617000-112621200	Enhancers	Stomach Mucosa	stomach
19	chr10:112617000-112621200	Enhancers	Spleen	Spleen
20	chr10:112617000-112621400	Enhancers	Fetal Intestine Small	intestine
21	chr10:112617000-112621400	Enhancers	Fetal Muscle Leg	muscle
22	chr10:112617000-112622000	Enhancers	Primary B cells from cord blood	blood
23	chr10:112617000-112622400	Enhancers	Primary T cells from cord blood	blood
24	chr10:112617000-112622800	Enhancers	Fetal Intestine Large	intestine
25	chr10:112617000-112623000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
26	chr10:112617000-112623200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
27	chr10:112617000-112624200	Enhancers	Primary hematopoietic stem cells	blood
28	chr10:112617000-112624600	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr10:112617000-112624600	Enhancers	Primary B cells from peripheral blood	blood
30	chr10:112617000-112624600	Enhancers	Primary T cells fromperipheralblood	blood
31	chr10:112617000-112624600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
32	chr10:112617000-112628600	Enhancers	Placenta	Placenta
33	chr10:112617200-112619800	Enhancers	Brain Angular Gyrus	brain
34	chr10:112617200-112619800	Enhancers	Brain Anterior Caudate	brain
35	chr10:112617200-112621000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr10:112617200-112621200	Enhancers	Brain Substantia Nigra	brain
37	chr10:112617200-112621400	Enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr10:112617200-112624400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr10:112617400-112620400	Enhancers	HSMMtube	muscle
40	chr10:112617400-112621000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr10:112617400-112624200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr10:112617400-112624200	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr10:112617800-112619600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr10:112617800-112619600	Weak transcription	HSMM	muscle
45	chr10:112617800-112619800	Weak transcription	Pancreatic Islets	Pancreatic Islet
46	chr10:112617800-112620400	Enhancers	Colon Smooth Muscle	Colon
47	chr10:112617800-112620400	Weak transcription	HMEC	breast
48	chr10:112617800-112620600	Enhancers	Primary T helper naive cells from peripheral blood	blood
49	chr10:112617800-112621000	Enhancers	Brain Inferior Temporal Lobe	brain
50	chr10:112617800-112630600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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