Variant report

Variant	rs13034515
Chromosome Location	chr2:11776279-11776280
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	chr2:11765168..11769666-chr2:11772885..11776464,4	K562	blood:
2	chr17:57915136..57917305-chr2:11774808..11777131,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000062716	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12999112	0.81[ASN][1000 genomes]
rs13013207	1.00[CEU][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13016287	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4669757	1.00[CEU][hapmap];0.85[CHB][hapmap];0.81[JPT][hapmap];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4669758	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6709080	0.98[AMR][1000 genomes];0.93[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	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
4	esv3374557	chr2:11775726-11778274	Weak transcription Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:51 , 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	chr2:11759400-11780400	Weak transcription	Gastric	stomach
6	chr2:11764800-11776800	Strong transcription	Fetal Muscle Trunk	muscle
7	chr2:11765000-11776400	Strong transcription	Brain Anterior Caudate	brain
8	chr2:11767600-11781200	Weak transcription	Right Atrium	heart
9	chr2:11767600-11784600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr2:11767600-11786000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr2:11767600-11788600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:11767800-11780800	Weak transcription	Adipose Nuclei	Adipose
13	chr2:11767800-11781200	Strong transcription	Fetal Muscle Leg	muscle
14	chr2:11767800-11781600	Strong transcription	HUES6 Cell Line	embryonic stem cell
15	chr2:11767800-11785000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr2:11767800-11787000	Weak transcription	Fetal Kidney	kidney
17	chr2:11768000-11778600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr2:11769200-11779400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr2:11770400-11786400	Weak transcription	Fetal Lung	lung
20	chr2:11771800-11779600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr2:11772000-11776800	Strong transcription	Skeletal Muscle Male	skeletal muscle
22	chr2:11772000-11782400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr2:11772000-11783600	Strong transcription	Fetal Stomach	stomach
24	chr2:11773200-11779400	Weak transcription	Liver	Liver
25	chr2:11773200-11780200	Weak transcription	Esophagus	oesophagus
26	chr2:11773200-11780400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr2:11773400-11790600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr2:11774600-11779400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr2:11775200-11778600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr2:11775400-11778000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr2:11775400-11779600	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr2:11775600-11778000	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr2:11775600-11778800	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr2:11775800-11777800	Weak transcription	Right Ventricle	heart
35	chr2:11775800-11779600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr2:11775800-11779600	Weak transcription	Left Ventricle	heart
37	chr2:11775800-11780000	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr2:11775800-11780000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr2:11775800-11785600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr2:11776000-11778000	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr2:11776000-11779600	Weak transcription	Brain Hippocampus Middle	brain
42	chr2:11776000-11779600	Weak transcription	Pancreas	Pancrea
43	chr2:11776000-11783000	Weak transcription	Fetal Intestine Small	intestine
44	chr2:11776200-11777600	Weak transcription	Brain Cingulate Gyrus	brain
45	chr2:11776200-11777600	Weak transcription	Brain Substantia Nigra	brain
46	chr2:11776200-11777800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr2:11776200-11778600	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr2:11776200-11779000	Weak transcription	Brain Angular Gyrus	brain
49	chr2:11776200-11779400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr2:11776200-11779600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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