Variant report

Variant	rs6709080
Chromosome Location	chr2:11769286-11769287
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:11760419..11762355-chr2:11769003..11771713,3	MCF-7	breast:
2	chr2:11765168..11769666-chr2:11772885..11776464,4	K562	blood:
3	chr2:11767938..11770367-chr2:11770669..11772447,2	MCF-7	breast:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12999112	0.90[ASN][1000 genomes]
rs13013207	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13016287	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13034515	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4669757	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4669758	0.96[AMR][1000 genomes];0.95[EUR][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	nsv1010506	chr2:11430965-12057286	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS 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 miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv535585	chr2:11430965-12057286	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	nsv873663	chr2:11664349-11783775	Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11724400-11788600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:11733600-11784000	Strong transcription	HepG2	liver
3	chr2:11752000-11784400	Strong transcription	Ovary	ovary
4	chr2:11755200-11776800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr2:11759200-11772800	Weak transcription	Right Ventricle	heart
6	chr2:11759400-11780400	Weak transcription	Gastric	stomach
7	chr2:11760200-11771800	Weak transcription	Fetal Intestine Large	intestine
8	chr2:11763400-11769400	Weak transcription	Fetal Heart	heart
9	chr2:11764600-11774400	Weak transcription	Stomach Smooth Muscle	stomach
10	chr2:11764800-11776200	Strong transcription	Brain Inferior Temporal Lobe	brain
11	chr2:11764800-11776800	Strong transcription	Fetal Muscle Trunk	muscle
12	chr2:11765000-11776200	Strong transcription	Brain Angular Gyrus	brain
13	chr2:11765000-11776400	Strong transcription	Brain Anterior Caudate	brain
14	chr2:11766600-11773400	Strong transcription	Brain Cingulate Gyrus	brain
15	chr2:11766800-11769400	Strong transcription	Pancreatic Islets	Pancreatic Islet
16	chr2:11766800-11771000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr2:11766800-11776200	Strong transcription	Brain Substantia Nigra	brain
18	chr2:11767000-11771000	Weak transcription	Psoas Muscle	Psoas
19	chr2:11767600-11771200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr2:11767600-11771600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr2:11767600-11772800	Weak transcription	Pancreas	Pancrea
22	chr2:11767600-11773000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr2:11767600-11781200	Weak transcription	Right Atrium	heart
24	chr2:11767600-11784600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr2:11767600-11786000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr2:11767600-11788600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr2:11767800-11769800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr2:11767800-11770000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr2:11767800-11770000	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr2:11767800-11770000	Weak transcription	Fetal Lung	lung
31	chr2:11767800-11770000	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr2:11767800-11772800	Weak transcription	Liver	Liver
33	chr2:11767800-11772800	Weak transcription	Left Ventricle	heart
34	chr2:11767800-11774600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr2:11767800-11780800	Weak transcription	Adipose Nuclei	Adipose
36	chr2:11767800-11781200	Strong transcription	Fetal Muscle Leg	muscle
37	chr2:11767800-11781600	Strong transcription	HUES6 Cell Line	embryonic stem cell
38	chr2:11767800-11785000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr2:11767800-11787000	Weak transcription	Fetal Kidney	kidney
40	chr2:11768000-11769800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr2:11768000-11770000	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr2:11768000-11770200	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr2:11768000-11770400	Strong transcription	Fetal Stomach	stomach
44	chr2:11768000-11772800	Weak transcription	Fetal Intestine Small	intestine
45	chr2:11768000-11778600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr2:11768200-11769600	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr2:11768400-11770400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr2:11768600-11770200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr2:11768800-11770400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
50	chr2:11769000-11769400	Strong transcription	Skeletal Muscle Male	skeletal muscle

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