Variant report

rSNPs within LD-proxies of this variant (count:13)

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:20 , 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	chr2:55078800-55106800	Weak transcription	Brain Angular Gyrus	brain
4	chr2:55081400-55122400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr2:55087800-55126000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr2:55092400-55111000	Weak transcription	Pancreas	Pancrea
7	chr2:55095200-55148200	Weak transcription	Primary B cells from peripheral blood	blood
8	chr2:55098000-55100600	Enhancers	Fetal Muscle Leg	muscle
9	chr2:55098600-55100600	Enhancers	Fetal Brain Male	brain
10	chr2:55098600-55100600	Enhancers	HepG2	liver
11	chr2:55098800-55100600	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr2:55099000-55101800	Enhancers	Pancreatic Islets	Pancreatic Islet
13	chr2:55099400-55100600	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr2:55099800-55100600	Enhancers	Fetal Intestine Small	intestine
15	chr2:55100000-55100600	Enhancers	Stomach Mucosa	stomach
16	chr2:55100000-55104200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr2:55100200-55100800	Enhancers	Liver	Liver
18	chr2:55100200-55102200	Weak transcription	Psoas Muscle	Psoas
19	chr2:55100200-55106400	Weak transcription	HSMM	muscle
20	chr2:55100400-55101200	Weak transcription	Fetal Brain Female	brain

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