Variant report

Variant	rs11688166
Chromosome Location	chr2:233566210-233566211
allele	A/G
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	POLR2A	chr2:233566125-233566734	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:233564546..233567333-chr2:233571993..233574146,2	K562	blood:
2	chr2:233565184..233567187-chr2:233578536..233582412,3	MCF-7	breast:
3	chr2:233562305..233563943-chr2:233565378..233568018,2	MCF-7	breast:

Variant related genes	Relation type
GIGYF2	TF binding region

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs1022329	0.86[EUR][1000 genomes]
rs10427328	0.88[EUR][1000 genomes]
rs1078323	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10933406	0.92[CEU][hapmap];0.86[EUR][1000 genomes]
rs1104764	0.88[CEU][hapmap];0.84[EUR][1000 genomes]
rs11689851	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];1.00[ASN][1000 genomes]
rs11893358	0.82[EUR][1000 genomes]
rs12105766	0.92[CEU][hapmap];0.85[EUR][1000 genomes]
rs12619195	0.92[CEU][hapmap]
rs12993791	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12999865	0.82[EUR][1000 genomes]
rs13001052	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13007579	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13021823	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13024330	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs1446309	1.00[CHB][hapmap]
rs17164	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1973675	0.92[CEU][hapmap];0.82[EUR][1000 genomes]
rs2289911	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs2293780	0.82[EUR][1000 genomes]
rs2344611	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2344613	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2592104	0.90[EUR][1000 genomes]
rs283465	0.85[EUR][1000 genomes]
rs283467	0.87[EUR][1000 genomes]
rs283470	0.92[CEU][hapmap]
rs283487	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34707169	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35491427	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4144795	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4144797	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4973563	1.00[CEU][hapmap]
rs4973564	0.88[CEU][hapmap]
rs62193269	0.83[EUR][1000 genomes]
rs62193271	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6704763	0.92[CEU][hapmap];0.86[EUR][1000 genomes]
rs6710294	0.87[EUR][1000 genomes]
rs6716488	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6717048	0.92[CEU][hapmap];0.87[EUR][1000 genomes]
rs6733495	0.92[CEU][hapmap];0.85[EUR][1000 genomes]
rs6739794	0.88[EUR][1000 genomes]
rs737027	0.92[CEU][hapmap];0.82[EUR][1000 genomes]
rs778341	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs921055	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs974321	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948470	chr2:233166262-233886732	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv1005123	chr2:233227729-233920152	Enhancers Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv536173	chr2:233227729-233920152	Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 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	chr2:233563200-233566600	Enhancers	Primary T helper cells fromperipheralblood	blood
2	chr2:233563200-233567600	Weak transcription	Fetal Muscle Trunk	muscle
3	chr2:233563200-233569000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
4	chr2:233563200-233572400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr2:233563400-233568600	Weak transcription	Aorta	Aorta
6	chr2:233563400-233569000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr2:233563600-233566400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr2:233563600-233566600	Enhancers	Primary T killer memory cells from peripheral blood	blood
9	chr2:233563600-233566600	Enhancers	Adipose Nuclei	Adipose
10	chr2:233563800-233567600	Enhancers	Primary T helper naive cells from peripheral blood	blood
11	chr2:233563800-233567600	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr2:233563800-233582600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:233564000-233568200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr2:233564000-233568600	Weak transcription	Stomach Smooth Muscle	stomach
15	chr2:233564000-233568800	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr2:233564000-233570600	Weak transcription	Fetal Kidney	kidney
17	chr2:233564000-233570800	Weak transcription	HSMMtube	muscle
18	chr2:233564000-233579600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr2:233564000-233589000	Weak transcription	NH-A	brain
20	chr2:233564200-233566800	Enhancers	Ovary	ovary
21	chr2:233564200-233567200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr2:233564200-233567200	Weak transcription	Fetal Thymus	thymus
23	chr2:233564200-233567600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr2:233564200-233567800	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr2:233564200-233567800	Weak transcription	Primary B cells from peripheral blood	blood
26	chr2:233564200-233568200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr2:233564200-233568400	Weak transcription	Colonic Mucosa	Colon
28	chr2:233564200-233568400	Weak transcription	Fetal Muscle Leg	muscle
29	chr2:233564200-233568600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr2:233564200-233568600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr2:233564200-233568600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr2:233564200-233568600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr2:233564200-233568600	Weak transcription	Esophagus	oesophagus
34	chr2:233564200-233568600	Weak transcription	Lung	lung
35	chr2:233564200-233568800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr2:233564200-233570000	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr2:233564200-233570400	Weak transcription	Primary hematopoietic stem cells	blood
38	chr2:233564200-233571000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr2:233564200-233596400	Weak transcription	NHLF	lung
40	chr2:233564200-233613000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr2:233564400-233567000	Weak transcription	Primary B cells from cord blood	blood
42	chr2:233564400-233568000	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr2:233564600-233566400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr2:233564600-233566400	Genic enhancers	Dnd41	blood
45	chr2:233564600-233567400	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr2:233564800-233568800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr2:233564800-233569400	Weak transcription	Osteobl	bone
48	chr2:233564800-233592800	Weak transcription	Rectal Smooth Muscle	rectum
49	chr2:233565000-233566400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr2:233565000-233566400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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