Variant report

Variant	rs13428964
Chromosome Location	chr2:11646892-11646893
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10191947	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12468776	0.82[EUR][1000 genomes]
rs12477087	0.82[EUR][1000 genomes]
rs13018339	0.82[EUR][1000 genomes]
rs2043541	0.82[EUR][1000 genomes]
rs4669742	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6722279	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6732810	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs67894448	0.83[EUR][1000 genomes]
rs9287731	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][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	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

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11639600-11647600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr2:11639600-11648200	Weak transcription	Stomach Mucosa	stomach
3	chr2:11639600-11655000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr2:11640000-11648000	Weak transcription	Fetal Heart	heart
5	chr2:11641400-11647800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr2:11641400-11651600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr2:11641400-11653200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr2:11641600-11653800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr2:11641800-11647800	Weak transcription	Duodenum Mucosa	Duodenum
10	chr2:11643400-11651200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr2:11643800-11648200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr2:11644000-11651800	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr2:11644800-11647000	Enhancers	GM12878-XiMat	blood
14	chr2:11644800-11648400	Enhancers	Ovary	ovary
15	chr2:11645200-11651800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr2:11645400-11647000	Enhancers	Fetal Stomach	stomach
17	chr2:11645800-11647200	Flanking Active TSS	HepG2	liver
18	chr2:11646000-11647000	Enhancers	Pancreas	Pancrea
19	chr2:11646200-11647000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr2:11646200-11647000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr2:11646200-11647000	Enhancers	Left Ventricle	heart
22	chr2:11646200-11647000	Enhancers	Psoas Muscle	Psoas
23	chr2:11646200-11647000	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr2:11646200-11647200	Enhancers	Brain Angular Gyrus	brain
25	chr2:11646200-11648400	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr2:11646200-11648600	Enhancers	Fetal Muscle Trunk	muscle
27	chr2:11646200-11648800	Enhancers	Brain Cingulate Gyrus	brain
28	chr2:11646200-11648800	Enhancers	Fetal Muscle Leg	muscle
29	chr2:11646200-11649000	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr2:11646200-11649000	Enhancers	Brain Inferior Temporal Lobe	brain
31	chr2:11646400-11647000	Enhancers	Right Atrium	heart
32	chr2:11646400-11647000	Enhancers	Right Ventricle	heart
33	chr2:11646400-11648200	Enhancers	Brain Hippocampus Middle	brain
34	chr2:11646400-11648800	Enhancers	Brain Anterior Caudate	brain
35	chr2:11646400-11648800	Enhancers	Brain Substantia Nigra	brain
36	chr2:11646400-11651600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr2:11646400-11653800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr2:11646600-11647800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr2:11646600-11647800	Weak transcription	Fetal Lung	lung
40	chr2:11646600-11648200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr2:11646600-11648800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
42	chr2:11646600-11649000	Enhancers	Liver	Liver
43	chr2:11646800-11647000	ZNF genes & repeats	Gastric	stomach
44	chr2:11646800-11647400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr2:11646800-11647800	Weak transcription	Fetal Intestine Small	intestine
46	chr2:11646800-11648000	Weak transcription	Fetal Intestine Large	intestine

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