Variant report

Variant	rs4671992
Chromosome Location	chr2:55134309-55134310
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:55133624..55135276-chr2:55192166..55194792,2	K562	blood:
2	chr2:55130679..55134331-chr2:55179003..55183555,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000214595	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs6545453	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs4671992	PSME4	cis	parietal	SCAN
rs4671992	NRXN1	cis	cerebellum	SCAN
rs4671992	TSPYL6	cis	cerebellum	SCAN
rs4671992	RPL23AP32	cis	cerebellum	SCAN
rs4671992	CCDC85A	cis	parietal	SCAN

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55095200-55148200	Weak transcription	Primary B cells from peripheral blood	blood
2	chr2:55132000-55136600	Enhancers	Liver	Liver
3	chr2:55132000-55140600	Weak transcription	Esophagus	oesophagus
4	chr2:55132200-55135600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr2:55132200-55135800	Weak transcription	NH-A	brain
6	chr2:55132400-55134600	Enhancers	Fetal Brain Male	brain
7	chr2:55132400-55134600	Enhancers	Skeletal Muscle Male	skeletal muscle
8	chr2:55132400-55135600	Weak transcription	Osteobl	bone
9	chr2:55132400-55135800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr2:55132400-55135800	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr2:55132600-55135600	Weak transcription	HepG2	liver
12	chr2:55133000-55135600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr2:55133200-55135600	Weak transcription	NHLF	lung
14	chr2:55133400-55134400	Enhancers	Fetal Heart	heart
15	chr2:55133400-55134600	Enhancers	Fetal Thymus	thymus
16	chr2:55133400-55134600	Enhancers	Thymus	Thymus
17	chr2:55133600-55134400	Enhancers	Brain Cingulate Gyrus	brain
18	chr2:55133600-55134400	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr2:55133600-55134600	Enhancers	Brain Hippocampus Middle	brain
20	chr2:55133600-55135600	Weak transcription	Fetal Intestine Small	intestine
21	chr2:55134000-55135600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr2:55134000-55153800	Weak transcription	Brain Angular Gyrus	brain
23	chr2:55134200-55135200	Weak transcription	NHDF-Ad	bronchial
24	chr2:55134200-55135400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr2:55134200-55135400	Weak transcription	Fetal Muscle Trunk	muscle
26	chr2:55134200-55135400	Weak transcription	Fetal Muscle Leg	muscle
27	chr2:55134200-55135600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr2:55134200-55135600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr2:55134200-55135600	Weak transcription	Psoas Muscle	Psoas
30	chr2:55134200-55135600	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr2:55134200-55135600	Weak transcription	HSMM	muscle
32	chr2:55134200-55135600	Weak transcription	HSMMtube	muscle
33	chr2:55134200-55147600	Weak transcription	Fetal Brain Female	brain

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