Variant report

Variant	rs13385373
Chromosome Location	chr2:55108831-55108832
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs1438818	0.88[ASN][1000 genomes]
rs998230	0.88[ASN][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	esv33638	chr2:54765256-55109455	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv1005449	chr2:54938633-55129503	Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	esv1796192	chr2:55081033-55110969	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv834069	chr2:55096597-55251680	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55068400-55109000	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr2:55068600-55122400	Weak transcription	Brain Anterior Caudate	brain
3	chr2:55081400-55122400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr2:55087800-55126000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr2:55092400-55111000	Weak transcription	Pancreas	Pancrea
6	chr2:55095200-55148200	Weak transcription	Primary B cells from peripheral blood	blood
7	chr2:55105600-55109000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr2:55106400-55109200	Enhancers	HSMM	muscle
9	chr2:55106400-55109200	Enhancers	HSMMtube	muscle
10	chr2:55106600-55109800	Enhancers	Fetal Muscle Leg	muscle
11	chr2:55106600-55124000	Weak transcription	Spleen	Spleen
12	chr2:55107400-55122600	Weak transcription	Brain Substantia Nigra	brain
13	chr2:55107600-55109000	Weak transcription	Brain Angular Gyrus	brain
14	chr2:55107600-55109200	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr2:55107600-55110600	Weak transcription	Gastric	stomach
16	chr2:55107800-55109000	Weak transcription	Brain Cingulate Gyrus	brain
17	chr2:55108000-55109000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr2:55108000-55109000	Weak transcription	Brain Germinal Matrix	brain
19	chr2:55108000-55109200	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr2:55108000-55110600	Weak transcription	Fetal Intestine Large	intestine
21	chr2:55108400-55109200	Enhancers	Fetal Muscle Trunk	muscle
22	chr2:55108600-55109200	Enhancers	Brain Hippocampus Middle	brain
23	chr2:55108600-55109200	Enhancers	Thymus	Thymus
24	chr2:55108600-55109400	Enhancers	Muscle Satellite Cultured Cells	--
25	chr2:55108800-55109200	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr2:55108800-55109200	Enhancers	Dnd41	blood
27	chr2:55108800-55109400	Enhancers	Fetal Thymus	thymus

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