Variant report

Variant	rs11689817
Chromosome Location	chr2:32364241-32364242
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:32362664..32364966-chr2:32389638..32391617,2	MCF-7	breast:
2	chr2:32362766..32364698-chr2:32390702..32392991,2	K562	blood:

Variant related genes	Relation type
ENSG00000272716	Chromatin interaction
ENSG00000152683	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11678119	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11681731	0.80[AMR][1000 genomes]
rs11683760	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11683842	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11694630	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12474443	0.88[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs12611678	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12614686	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12617289	0.80[AMR][1000 genomes]
rs12617290	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs12618002	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12995952	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13007972	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13008192	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13022197	0.88[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs212739	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs212746	0.85[AFR][1000 genomes]
rs2294176	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2294179	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2365558	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs2886393	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34976640	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35641550	0.92[AMR][1000 genomes]
rs3752916	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3769602	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3769603	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3851310	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4952249	0.85[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs4952250	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs6543649	0.84[AFR][1000 genomes]
rs6723154	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7572964	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7573543	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7581340	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7592239	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7592356	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7604289	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949102	chr2:32030307-33011548	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv833670	chr2:32295778-32481857	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv873778	chr2:32297984-32409007	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv873779	chr2:32330885-32372245	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv817386	chr2:32332893-32724794	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
6	nsv1001038	chr2:32333378-32657112	Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
7	nsv1009359	chr2:32333378-32725117	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
8	nsv535613	chr2:32333378-32725117	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:32309800-32381200	Weak transcription	NHDF-Ad	bronchial
2	chr2:32331200-32370000	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr2:32331400-32368600	Weak transcription	Psoas Muscle	Psoas
4	chr2:32331400-32370000	Weak transcription	Right Ventricle	heart
5	chr2:32331600-32377400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr2:32331600-32390200	Weak transcription	Gastric	stomach
7	chr2:32331600-32390200	Weak transcription	Pancreas	Pancrea
8	chr2:32331800-32376400	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr2:32332800-32389400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr2:32333000-32372400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr2:32333000-32389800	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr2:32342200-32372400	Weak transcription	Esophagus	oesophagus
13	chr2:32342200-32389800	Weak transcription	Aorta	Aorta
14	chr2:32344200-32389600	Weak transcription	HMEC	breast
15	chr2:32344800-32368600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr2:32349200-32369400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr2:32352200-32374600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr2:32352600-32369200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr2:32354000-32369400	Weak transcription	GM12878-XiMat	blood
20	chr2:32354600-32390200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr2:32354800-32389600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr2:32355000-32389800	Weak transcription	Brain Substantia Nigra	brain
23	chr2:32355000-32390200	Weak transcription	Small Intestine	intestine
24	chr2:32355200-32383600	Weak transcription	HSMMtube	muscle
25	chr2:32355400-32365600	Weak transcription	Lung	lung
26	chr2:32355400-32389800	Weak transcription	HUVEC	blood vessel
27	chr2:32355600-32389600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr2:32355600-32389800	Weak transcription	Spleen	Spleen
29	chr2:32355800-32369800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr2:32356000-32368000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr2:32356200-32380400	Weak transcription	Colonic Mucosa	Colon
32	chr2:32356400-32383200	Weak transcription	K562	blood
33	chr2:32356600-32366400	Weak transcription	Fetal Brain Female	brain
34	chr2:32357400-32389800	Weak transcription	Rectal Smooth Muscle	rectum
35	chr2:32358200-32369600	Weak transcription	Fetal Muscle Leg	muscle
36	chr2:32358600-32367400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr2:32359600-32364400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr2:32359800-32365400	Weak transcription	Fetal Stomach	stomach
39	chr2:32360000-32390200	Weak transcription	Ovary	ovary
40	chr2:32361000-32377400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr2:32361000-32377600	Strong transcription	Primary neutrophils fromperipheralblood	blood
42	chr2:32361000-32389800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr2:32361200-32365800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr2:32361200-32366800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr2:32361200-32367400	Strong transcription	Primary B cells from cord blood	blood
46	chr2:32361200-32371000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr2:32361200-32374000	Strong transcription	Primary T helper cells fromperipheralblood	blood
48	chr2:32361200-32375000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr2:32361200-32375800	Strong transcription	Primary monocytes fromperipheralblood	blood
50	chr2:32361200-32381800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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