Variant report

Variant	rs2973133
Chromosome Location	chr5:119786253-119786254
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	chr5:119785992..119787497-chr5:119792334..119794755,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs17146710	1.00[JPT][hapmap]
rs1902147	1.00[JPT][hapmap]
rs2601208	1.00[JPT][hapmap]
rs2601210	1.00[JPT][hapmap]
rs2601211	1.00[JPT][hapmap]
rs2604163	1.00[JPT][hapmap]
rs2655067	1.00[JPT][hapmap]
rs2655069	1.00[JPT][hapmap]
rs41357149	1.00[JPT][hapmap]
rs4895254	0.84[CEU][hapmap]
rs4895261	1.00[JPT][hapmap]
rs6862601	0.82[EUR][1000 genomes]
rs6863052	0.82[AFR][1000 genomes]
rs6883068	0.88[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap]
rs7732481	1.00[CHB][hapmap]
rs7733602	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532200	chr5:119317901-120102513	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1018955	chr5:119679918-119802014	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1018100	chr5:119749898-119802014	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2973133	FAM170A	cis	cerebellum	SCAN

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:119780400-119786400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr5:119782800-119790000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr5:119783000-119793600	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr5:119783800-119789200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr5:119783800-119790000	Weak transcription	NHLF	lung
6	chr5:119784000-119788000	Weak transcription	NH-A	brain
7	chr5:119784400-119787000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr5:119785200-119786800	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr5:119785200-119787400	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr5:119785400-119786600	Weak transcription	Psoas Muscle	Psoas
11	chr5:119785600-119789200	Weak transcription	NHDF-Ad	bronchial
12	chr5:119785600-119789400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr5:119785600-119789800	Weak transcription	Osteobl	bone
14	chr5:119785800-119788800	Weak transcription	Fetal Heart	heart
15	chr5:119785800-119789600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr5:119785800-119789800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr5:119786000-119786600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr5:119786200-119786400	Enhancers	Fetal Muscle Leg	muscle
19	chr5:119786200-119787600	Weak transcription	HSMM	muscle
20	chr5:119786200-119787600	Weak transcription	HSMMtube	muscle
21	chr5:119786200-119788000	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr5:119786200-119793600	Weak transcription	Right Ventricle	heart
23	chr5:119786200-119793800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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