Variant report

Variant	rs622266
Chromosome Location	chr5:95050617-95050618
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:94981368..94988467-chr5:95046173..95051252,17	K562	blood:
2	chr5:95047472..95051247-chr5:95051726..95054261,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164292	Chromatin interaction
ENSG00000175449	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12187674	1.00[CHB][hapmap]
rs150535	1.00[CHB][hapmap]
rs153917	1.00[CHB][hapmap]
rs185311	0.83[ASN][1000 genomes]
rs2432036	0.83[ASN][1000 genomes]
rs2548130	1.00[CHB][hapmap];1.00[CHD][hapmap]

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	nsv598955	chr5:94903453-95136019	Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv830409	chr5:95006686-95204496	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs622266	RHOBTB3	cis	cerebellum	SCAN
rs622266	RHOBTB3	cis	parietal	SCAN
rs622266	GLRX	cis	parietal	SCAN
rs622266	RFESD	cis	cerebellum	SCAN

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:95040600-95053400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr5:95042200-95051800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr5:95046000-95051800	Weak transcription	Pancreas	Pancrea
4	chr5:95046200-95051600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr5:95046400-95055600	Weak transcription	Small Intestine	intestine
6	chr5:95047000-95052600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr5:95047000-95054600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr5:95047200-95056800	Weak transcription	Fetal Muscle Leg	muscle
9	chr5:95047200-95062400	Weak transcription	Psoas Muscle	Psoas
10	chr5:95047600-95054000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr5:95047600-95058200	Weak transcription	Fetal Muscle Trunk	muscle
12	chr5:95048200-95051600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr5:95048200-95051800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr5:95048200-95052000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr5:95048200-95053400	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr5:95048200-95053800	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr5:95048200-95055800	Weak transcription	Ovary	ovary
18	chr5:95048200-95059400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr5:95048400-95051400	Weak transcription	HSMM	muscle
20	chr5:95048400-95051800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr5:95048400-95053000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr5:95048400-95053800	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr5:95048400-95055800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr5:95048400-95055800	Weak transcription	NHLF	lung
25	chr5:95048400-95063600	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr5:95048400-95066600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr5:95048400-95066600	Weak transcription	Left Ventricle	heart
28	chr5:95048600-95051000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr5:95048600-95051600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr5:95048600-95051800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr5:95048600-95053800	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr5:95048600-95054000	Weak transcription	HSMMtube	muscle
33	chr5:95048800-95051000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr5:95048800-95051000	Weak transcription	NH-A	brain
35	chr5:95048800-95051000	Weak transcription	Osteobl	bone
36	chr5:95048800-95051400	Weak transcription	A549	lung
37	chr5:95048800-95051800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr5:95048800-95052600	Weak transcription	Fetal Heart	heart
39	chr5:95048800-95054000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr5:95049600-95051400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr5:95049600-95052400	Enhancers	Hela-S3	cervix
42	chr5:95049800-95050800	Enhancers	Monocytes-CD14+_RO01746	blood
43	chr5:95049800-95052000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr5:95050200-95051800	Weak transcription	Placenta	Placenta
45	chr5:95050400-95051600	Weak transcription	K562	blood
46	chr5:95050400-95051800	Weak transcription	Fetal Intestine Small	intestine
47	chr5:95050400-95052000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr5:95050400-95054000	Weak transcription	Primary monocytes fromperipheralblood	blood
49	chr5:95050400-95054000	Weak transcription	Adipose Nuclei	Adipose
50	chr5:95050600-95052200	Enhancers	Muscle Satellite Cultured Cells	--

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