Variant report

Variant	rs17300950
Chromosome Location	chr1:180532138-180532139
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:180530082..180533605-chr1:180534162..180536876,3	K562	blood:
2	chr1:180530904..180533469-chr1:180554025..180555581,2	MCF-7	breast:
3	chr1:180511669..180514906-chr1:180530245..180533112,3	K562	blood:
4	chr1:180530731..180535452-chr1:180539258..180542430,4	K562	blood:
5	chr1:180529943..180534795-chr1:180578153..180581956,5	K562	blood:
6	chr1:180530185..180532877-chr1:180542986..180545564,3	K562	blood:
7	chr1:180520741..180525768-chr1:180529838..180532812,4	MCF-7	breast:
8	chr1:180470665..180473008-chr1:180530633..180533066,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000135847	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10753217	0.95[CEU][hapmap]
rs10798773	0.85[JPT][hapmap]
rs16856099	0.85[JPT][hapmap]
rs16856101	0.85[JPT][hapmap]
rs16856123	0.88[CHD][hapmap];0.85[JPT][hapmap]
rs61811629	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs68020735	0.86[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs7515944	0.85[JPT][hapmap]
rs946635	0.86[JPT][hapmap]

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	nsv1003359	chr1:180300936-180727561	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	48 gene(s)	inside rSNPs	diseases
2	nsv949311	chr1:180438895-180692815	ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
3	nsv872578	chr1:180510771-180842344	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv947137	chr1:180531647-180537166	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs17300950	ACBD6	cis	parietal	SCAN
rs17300950	FAM163A	cis	cerebellum	SCAN
rs17300950	TOR1AIP1	cis	cerebellum	SCAN
rs17300950	RALGPS2	cis	cerebellum	SCAN

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180516600-180536800	Weak transcription	Psoas Muscle	Psoas
2	chr1:180525200-180534400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr1:180529200-180532800	Enhancers	HSMMtube	muscle
4	chr1:180529200-180533000	Enhancers	Osteobl	bone
5	chr1:180529400-180532800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:180529600-180532800	Enhancers	NHEK	skin
7	chr1:180530000-180535000	Enhancers	Left Ventricle	heart
8	chr1:180530200-180532600	Enhancers	Aorta	Aorta
9	chr1:180530600-180532400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr1:180530800-180532200	Enhancers	HSMM	muscle
11	chr1:180530800-180535200	Weak transcription	Pancreas	Pancrea
12	chr1:180531200-180532200	Weak transcription	Fetal Muscle Leg	muscle
13	chr1:180531200-180532600	Enhancers	Hela-S3	cervix
14	chr1:180531400-180532600	Enhancers	A549	lung
15	chr1:180531400-180532800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr1:180531400-180532800	Enhancers	Muscle Satellite Cultured Cells	--
17	chr1:180531400-180532800	Enhancers	HMEC	breast
18	chr1:180531400-180533000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr1:180531400-180537400	Enhancers	Fetal Brain Male	brain
20	chr1:180531600-180532200	Enhancers	Fetal Brain Female	brain
21	chr1:180531600-180532600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr1:180531600-180532800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr1:180531600-180532800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr1:180531600-180532800	Enhancers	Placenta	Placenta
25	chr1:180531600-180532800	Enhancers	NHLF	lung
26	chr1:180531600-180533000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr1:180531600-180533000	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr1:180531600-180535000	Enhancers	Fetal Heart	heart
29	chr1:180531800-180532400	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr1:180531800-180532600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr1:180531800-180532600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr1:180531800-180532600	Enhancers	Stomach Mucosa	stomach
33	chr1:180531800-180532600	Enhancers	NH-A	brain
34	chr1:180531800-180532800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr1:180531800-180532800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr1:180531800-180532800	Enhancers	Rectal Mucosa Donor 31	rectum
37	chr1:180531800-180532800	Enhancers	NHDF-Ad	bronchial
38	chr1:180531800-180533000	Flanking Active TSS	K562	blood
39	chr1:180531800-180534400	Weak transcription	Right Atrium	heart
40	chr1:180531800-180534400	Weak transcription	Right Ventricle	heart
41	chr1:180532000-180532400	Enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr1:180532000-180532400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr1:180532000-180532400	Enhancers	Fetal Intestine Small	intestine
44	chr1:180532000-180532600	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr1:180532000-180532600	Enhancers	HUVEC	blood vessel
46	chr1:180532000-180532800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr1:180532000-180532800	Enhancers	HepG2	liver

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