Variant report

Variant	rs11680511
Chromosome Location	chr2:39713214-39713215
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:39692371..39695353-chr2:39710610..39713558,3	MCF-7	breast:
2	chr2:39663353..39665956-chr2:39712350..39718160,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000231312	Chromatin interaction
ENSG00000011566	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10164629	0.86[EUR][1000 genomes]
rs10184116	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1060691	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10865153	0.85[EUR][1000 genomes]
rs11124685	0.81[AMR][1000 genomes]
rs11677700	0.91[AFR][1000 genomes]
rs12712644	0.85[EUR][1000 genomes]
rs13024956	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1997113	0.80[AMR][1000 genomes]
rs2287089	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62136541	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6719503	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6738090	0.84[EUR][1000 genomes]
rs6747519	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7573541	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7585512	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv997934	chr2:39473548-39751029	Enhancers Strong transcription ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv833858	chr2:39684483-39856498	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:39697400-39715400	Weak transcription	Pancreas	Pancrea
2	chr2:39697400-39722000	Weak transcription	Fetal Stomach	stomach
3	chr2:39697400-39722000	Weak transcription	Right Ventricle	heart
4	chr2:39697400-39724200	Weak transcription	Gastric	stomach
5	chr2:39697600-39714600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr2:39697600-39714600	Weak transcription	Fetal Kidney	kidney
7	chr2:39702200-39726000	Weak transcription	Fetal Intestine Small	intestine
8	chr2:39705400-39719400	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr2:39705600-39715200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr2:39705600-39719000	Weak transcription	Duodenum Mucosa	Duodenum
11	chr2:39705600-39721600	Weak transcription	Psoas Muscle	Psoas
12	chr2:39705800-39713400	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr2:39706000-39714400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:39706200-39715400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr2:39707400-39724200	Weak transcription	Fetal Brain Male	brain
16	chr2:39708200-39715400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr2:39709200-39714400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr2:39709800-39714000	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr2:39710200-39715200	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr2:39710600-39713800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr2:39710600-39716400	Enhancers	A549	lung
22	chr2:39710800-39717800	Weak transcription	Primary B cells from cord blood	blood
23	chr2:39711200-39714400	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr2:39711400-39714600	Weak transcription	NH-A	brain
25	chr2:39711400-39714600	Weak transcription	Osteobl	bone
26	chr2:39711400-39714800	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr2:39711400-39717400	Weak transcription	Stomach Mucosa	stomach
28	chr2:39711400-39718800	Weak transcription	K562	blood
29	chr2:39711600-39713400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr2:39711600-39713600	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr2:39711600-39714400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr2:39711600-39715000	Weak transcription	Fetal Lung	lung
33	chr2:39711600-39715200	Weak transcription	Ovary	ovary
34	chr2:39711600-39721800	Weak transcription	Left Ventricle	heart
35	chr2:39711600-39722000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr2:39711600-39722000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr2:39712000-39713400	Weak transcription	Lung	lung
38	chr2:39712000-39714000	Enhancers	HepG2	liver
39	chr2:39712000-39715400	Weak transcription	Right Atrium	heart
40	chr2:39712200-39714400	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr2:39712400-39713400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr2:39712400-39714600	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr2:39712400-39719200	Weak transcription	Fetal Heart	heart
44	chr2:39712400-39748600	Weak transcription	Aorta	Aorta
45	chr2:39712600-39714400	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr2:39712600-39714400	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr2:39712600-39714800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr2:39712600-39716000	Enhancers	HSMM	muscle
49	chr2:39712800-39714600	Weak transcription	HUVEC	blood vessel
50	chr2:39713000-39713600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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