Variant report

Variant	rs1196051
Chromosome Location	chr11:64870331-64870332
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	TCF7L2	chr11:64869779-64870396	PANC-1	pancreas:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:64644621..64647085-chr11:64869842..64873650,4	MCF-7	breast:

Variant related genes	Relation type
VPS51	TF binding region
ENSG00000110047	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10088	1.00[CEU][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs1149569	1.00[CEU][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1149570	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1195958	0.82[CEU][hapmap]
rs1195959	0.82[CEU][hapmap]
rs1195975	1.00[CEU][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1195976	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1195977	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1195978	1.00[CEU][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1196047	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1196049	1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1209621	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1211975	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1300836	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1546532	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17146589	0.82[CEU][hapmap]
rs2370165	0.88[ASN][1000 genomes]
rs2670910	0.82[CEU][hapmap]
rs3819049	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3850948	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3896078	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];0.96[ASN][1000 genomes]
rs491465	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4930699	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs495820	0.82[CEU][hapmap]
rs495935	0.82[CEU][hapmap]
rs500464	0.82[CEU][hapmap]
rs508375	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs527039	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs531178	1.00[CEU][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs542175	0.82[CEU][hapmap]
rs550771	0.82[CEU][hapmap]
rs584698	0.82[CEU][hapmap]
rs633671	0.82[CEU][hapmap]
rs664118	0.82[CEU][hapmap]
rs7939766	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs907629	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][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	nsv526181	chr11:64638041-65257329	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1539 gene(s)	inside rSNPs	diseases
2	nsv897709	chr11:64772545-64870779	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
3	nsv897710	chr11:64772545-64885445	Flanking Active TSS Strong transcription Genic enhancers Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
4	nsv897711	chr11:64772545-64900270	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
5	nsv897712	chr11:64856695-64882789	Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	67 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64864200-64879400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:64864400-64874600	Weak transcription	Aorta	Aorta
3	chr11:64864400-64878000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:64864600-64873000	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr11:64864600-64874600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr11:64864600-64876400	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr11:64864800-64870600	Weak transcription	HSMM	muscle
8	chr11:64864800-64875000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr11:64864800-64875000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr11:64864800-64875200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr11:64864800-64876000	Weak transcription	Rectal Smooth Muscle	rectum
12	chr11:64864800-64876200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr11:64864800-64876400	Weak transcription	A549	lung
14	chr11:64864800-64878200	Weak transcription	NHDF-Ad	bronchial
15	chr11:64864800-64878600	Weak transcription	Small Intestine	intestine
16	chr11:64864800-64879400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr11:64865000-64870600	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr11:64865000-64870600	Strong transcription	Fetal Stomach	stomach
19	chr11:64865000-64872800	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr11:64865000-64873200	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr11:64865000-64874400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr11:64865000-64874400	Weak transcription	Colonic Mucosa	Colon
23	chr11:64865000-64875200	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr11:64865000-64875600	Weak transcription	Colon Smooth Muscle	Colon
25	chr11:64865000-64876200	Weak transcription	Fetal Lung	lung
26	chr11:64865000-64878000	Strong transcription	Fetal Intestine Small	intestine
27	chr11:64865000-64879000	Weak transcription	Fetal Kidney	kidney
28	chr11:64865200-64871800	Weak transcription	GM12878-XiMat	blood
29	chr11:64865200-64877800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr11:64865400-64870600	Strong transcription	Fetal Thymus	thymus
31	chr11:64865400-64871000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr11:64865400-64871200	Strong transcription	Fetal Muscle Leg	muscle
33	chr11:64865400-64877600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr11:64865600-64877000	Strong transcription	Primary T cells fromperipheralblood	blood
35	chr11:64866000-64877400	Strong transcription	Primary T helper cells fromperipheralblood	blood
36	chr11:64866200-64870800	Strong transcription	Dnd41	blood
37	chr11:64866200-64871800	Weak transcription	NHLF	lung
38	chr11:64866200-64874800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr11:64866200-64874800	Weak transcription	Brain Germinal Matrix	brain
40	chr11:64866200-64875200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr11:64866200-64876200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr11:64866200-64877600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr11:64866200-64878000	Weak transcription	Fetal Brain Male	brain
44	chr11:64866200-64878000	Weak transcription	HMEC	breast
45	chr11:64866400-64873000	Weak transcription	Stomach Smooth Muscle	stomach
46	chr11:64866400-64877600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr11:64866400-64878000	Weak transcription	K562	blood
48	chr11:64866600-64874600	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr11:64866800-64871600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr11:64866800-64874400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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