Variant report

Variant	rs11124692
Chromosome Location	chr2:39990799-39990800
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:39990318..39993221-chr2:40005644..40007529,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000138050	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10164984	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10169390	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10174709	0.83[EUR][1000 genomes]
rs10206408	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10207589	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10211306	0.87[EUR][1000 genomes]
rs1035138	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1035139	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11124691	0.83[EUR][1000 genomes]
rs11124693	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12470473	0.80[EUR][1000 genomes]
rs12617624	0.88[EUR][1000 genomes]
rs12620957	0.84[EUR][1000 genomes]
rs12623462	0.87[EUR][1000 genomes]
rs12623545	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12624217	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12712656	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13400213	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13425906	0.87[EUR][1000 genomes]
rs13428837	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1548877	0.83[EUR][1000 genomes]
rs17478972	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1861243	0.83[ASN][1000 genomes]
rs1861258	0.88[ASN][1000 genomes]
rs1986876	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2041735	0.86[EUR][1000 genomes]
rs2192685	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2241115	0.90[ASN][1000 genomes]
rs2373689	0.87[EUR][1000 genomes]
rs2540228	0.82[ASN][1000 genomes]
rs35761077	0.87[EUR][1000 genomes]
rs3732121	0.85[EUR][1000 genomes]
rs3732122	0.87[EUR][1000 genomes]
rs3815510	0.84[ASN][1000 genomes]
rs4670955	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4670957	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4670958	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4670959	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs59756273	0.87[EUR][1000 genomes]
rs6544242	0.87[EUR][1000 genomes]
rs6719179	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6722610	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs727376	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7560642	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7581406	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7590912	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8265	0.86[ASN][1000 genomes]
rs917960	0.86[EUR][1000 genomes]
rs917961	0.86[ASN][1000 genomes]
rs917963	0.82[EUR][1000 genomes]
rs9309042	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs962262	0.82[EUR][1000 genomes]
rs997976	0.81[AMR][1000 genomes];0.87[EUR][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	nsv833870	chr2:39837022-40026024	Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS 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
2	nsv833881	chr2:39914558-40067256	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv873890	chr2:39976810-40009041	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv2696	chr2:39988381-40033288	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:39962200-39993200	Strong transcription	Liver	Liver
2	chr2:39965200-40005000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:39965200-40005400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr2:39967600-39991200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr2:39969800-39999800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr2:39971000-39999800	Weak transcription	Right Ventricle	heart
7	chr2:39971600-39998800	Strong transcription	HUES64 Cell Line	embryonic stem cell
8	chr2:39972400-39998600	Strong transcription	HMEC	breast
9	chr2:39972400-39998800	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr2:39973000-39998800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr2:39974200-39998600	Strong transcription	HUES48 Cell Line	embryonic stem cell
12	chr2:39974600-39994000	Strong transcription	Fetal Thymus	thymus
13	chr2:39975000-39998400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr2:39975000-39999800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
15	chr2:39975200-39993800	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr2:39975400-39997000	Strong transcription	HUES6 Cell Line	embryonic stem cell
17	chr2:39975800-39994600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr2:39976000-39993200	Strong transcription	Placenta	Placenta
19	chr2:39976000-39993400	Strong transcription	Adipose Nuclei	Adipose
20	chr2:39976200-39995400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr2:39976200-39998800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
22	chr2:39976400-39992000	Strong transcription	K562	blood
23	chr2:39976600-39992000	Strong transcription	Primary B cells from cord blood	blood
24	chr2:39976800-39999000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr2:39978600-40000000	Weak transcription	Fetal Heart	heart
26	chr2:39980000-39992000	Strong transcription	Primary T cells from cord blood	blood
27	chr2:39982600-39992600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr2:39982800-39992000	Strong transcription	Skeletal Muscle Female	skeletal muscle
29	chr2:39983000-39992000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr2:39983000-39999200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr2:39983200-39994000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr2:39983600-39994200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr2:39983600-39996400	Strong transcription	NHDF-Ad	bronchial
34	chr2:39983600-39998600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr2:39983600-39999000	Strong transcription	HSMM	muscle
36	chr2:39984800-39999600	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr2:39985000-39995400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr2:39985000-39996000	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr2:39985000-40005000	Weak transcription	Colonic Mucosa	Colon
40	chr2:39985200-39996000	Weak transcription	Rectal Smooth Muscle	rectum
41	chr2:39985200-39998400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr2:39985200-39999600	Weak transcription	Brain Germinal Matrix	brain
43	chr2:39985200-39999600	Weak transcription	Psoas Muscle	Psoas
44	chr2:39985200-39999800	Weak transcription	Brain Substantia Nigra	brain
45	chr2:39985200-40005000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr2:39985400-40005200	Weak transcription	Fetal Brain Male	brain
47	chr2:39985600-40001000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr2:39985800-39990800	Weak transcription	Ovary	ovary
49	chr2:39985800-39995600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr2:39985800-39995800	Weak transcription	Stomach Mucosa	stomach

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