Variant report

Variant	rs512316
Chromosome Location	chr11:65999947-65999948
allele	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	FOXA1	chr11:65999920-66000093	T-47D	breast:	n/a	chr11:65999990-66000002

No.	Distal block	Cell Line	Cell type
1	chr11:65998798..66000841-chr11:66035751..66037263,2	K562	blood:
2	chr11:65999678..66002038-chr11:66045531..66047368,2	K562	blood:
3	chr11:65998063..65999977-chr11:66024495..66026348,2	MCF-7	breast:
4	chr11:65999267..66001716-chr11:66005515..66007262,2	MCF-7	breast:

Variant related genes	Relation type
PACS1	TF binding region
ENSG00000245156	Chromatin interaction
ENSG00000174996	Chromatin interaction
ENSG00000174903	Chromatin interaction
ENSG00000174871	Chromatin interaction
ENSG00000175115	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs1151532	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1190945	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1190946	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1191715	0.88[AFR][1000 genomes]
rs1203551	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1203552	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1203749	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1203750	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1203801	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1300706	0.81[AFR][1000 genomes]
rs1630638	0.88[AFR][1000 genomes]
rs1783562	0.85[AFR][1000 genomes]
rs1783732	1.00[YRI][hapmap]
rs2430981	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2452687	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3016315	0.92[AFR][1000 genomes]
rs3017606	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs471709	1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs472853	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs475817	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs477001	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs485547	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4930332	0.89[AFR][1000 genomes]
rs502898	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs504456	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs505412	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs505642	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs510398	1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs515778	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs519911	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs527279	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs541954	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs547282	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs547892	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs549228	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs551652	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs555527	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs555826	1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs559298	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs560105	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs561199	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs561869	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs567414	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs568423	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs571368	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs572697	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs577301	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs581247	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6591196	0.85[AFR][1000 genomes]
rs693382	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7934588	0.82[AFR][1000 genomes]
rs7947668	0.88[AFR][1000 genomes]
rs948358	1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs948477	0.88[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3335923	chr11:65741698-66175759	Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
2	esv1819302	chr11:65787660-66007018	Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
3	esv3407551	chr11:65794503-66158322	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
4	esv3392427	chr11:65981489-66273695	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65961400-66011200	Weak transcription	Psoas Muscle	Psoas
2	chr11:65976600-66006000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr11:65977400-66010600	Strong transcription	Fetal Stomach	stomach
4	chr11:65977600-66018600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr11:65979800-66001200	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr11:65984600-66024200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr11:65984800-66000400	Weak transcription	HMEC	breast
8	chr11:65985800-66017800	Weak transcription	Fetal Heart	heart
9	chr11:65987800-66003400	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr11:65988200-66001200	Weak transcription	Small Intestine	intestine
11	chr11:65989600-66024200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr11:65990000-66002600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr11:65990200-66003000	Weak transcription	HepG2	liver
14	chr11:65990200-66007600	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr11:65990200-66019800	Strong transcription	Primary T cells from cord blood	blood
16	chr11:65990400-66009200	Weak transcription	K562	blood
17	chr11:65990600-66003000	Weak transcription	Fetal Kidney	kidney
18	chr11:65990600-66015800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr11:65990600-66018400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr11:65990800-66008600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr11:65990800-66009200	Strong transcription	Primary B cells from peripheral blood	blood
22	chr11:65990800-66018600	Strong transcription	Primary T cells fromperipheralblood	blood
23	chr11:65991000-66000000	Weak transcription	Dnd41	blood
24	chr11:65991000-66000600	Strong transcription	Adipose Nuclei	Adipose
25	chr11:65991000-66015400	Strong transcription	Primary T helper cells fromperipheralblood	blood
26	chr11:65991200-66012400	Strong transcription	Primary T helper cells PMA-I stimulated	--
27	chr11:65991200-66018600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr11:65991200-66018600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr11:65991600-66008200	Strong transcription	Primary B cells from cord blood	blood
30	chr11:65991600-66012800	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr11:65991600-66018400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr11:65991600-66018400	Strong transcription	Cortex derived primary cultured neurospheres	brain
33	chr11:65991800-66004000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr11:65991800-66005400	Strong transcription	Thymus	Thymus
35	chr11:65991800-66018400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr11:65992800-66009600	Weak transcription	HUVEC	blood vessel
37	chr11:65993800-66004000	Strong transcription	Primary hematopoietic stem cells	blood
38	chr11:65993800-66018400	Strong transcription	Stomach Smooth Muscle	stomach
39	chr11:65994400-66015200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr11:65994400-66018600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr11:65994600-66013200	Strong transcription	Primary monocytes fromperipheralblood	blood
42	chr11:65994600-66013800	Strong transcription	Primary neutrophils fromperipheralblood	blood
43	chr11:65994600-66018600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr11:65994800-66002800	Strong transcription	NH-A	brain
45	chr11:65995000-66003600	Strong transcription	HSMMtube	muscle
46	chr11:65995000-66018000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr11:65995000-66018800	Strong transcription	Fetal Intestine Small	intestine
48	chr11:65995200-66003200	Strong transcription	Fetal Muscle Leg	muscle
49	chr11:65995200-66015600	Strong transcription	Lung	lung
50	chr11:65995400-66008000	Strong transcription	Colon Smooth Muscle	Colon

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