Variant report

Variant	rs12118795
Chromosome Location	chr1:155963035-155963036
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	chr1:155889869..155892126-chr1:155963034..155965549,2	K562	blood:

Variant related genes	Relation type
ENSG00000132680	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10796955	0.81[ASW][hapmap];0.90[CEU][hapmap];0.89[CHD][hapmap];0.91[TSI][hapmap];0.81[EUR][1000 genomes]
rs1111102	0.95[CEU][hapmap];0.90[TSI][hapmap]
rs11264426	0.90[CEU][hapmap];0.85[TSI][hapmap];0.80[EUR][1000 genomes]
rs11585845	0.90[CEU][hapmap];0.91[TSI][hapmap];0.81[EUR][1000 genomes]
rs12037177	0.86[CEU][hapmap];0.81[TSI][hapmap]
rs12568523	0.85[CEU][hapmap]
rs1889532	0.90[CEU][hapmap];0.85[CHD][hapmap];0.85[TSI][hapmap];0.80[EUR][1000 genomes]
rs1889533	0.81[EUR][1000 genomes]
rs2016251	0.86[CEU][hapmap];0.84[TSI][hapmap]
rs2282301	0.86[CEU][hapmap];0.81[TSI][hapmap]
rs2297649	0.86[CEU][hapmap];0.87[TSI][hapmap]
rs4661218	0.90[CEU][hapmap];0.85[CHD][hapmap];0.85[TSI][hapmap]
rs6427297	0.90[CEU][hapmap];0.86[MEX][hapmap];0.94[TSI][hapmap]
rs6667652	0.86[CEU][hapmap];0.81[TSI][hapmap]
rs6670493	0.90[CEU][hapmap]
rs6696019	0.86[CEU][hapmap]
rs7534858	0.90[CEU][hapmap];0.91[TSI][hapmap];0.80[EUR][1000 genomes]
rs867549	0.86[CEU][hapmap]
rs867550	0.86[CEU][hapmap]
rs915178	0.95[CEU][hapmap];0.86[MEX][hapmap];0.94[TSI][hapmap]
rs915181	0.86[CEU][hapmap];0.84[TSI][hapmap]
rs928596	0.90[CEU][hapmap];0.85[CHD][hapmap];0.85[TSI][hapmap]

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	nsv916198	chr1:155804210-156403997	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	428 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs12118795	RIT1	Cis_1M	lymphoblastoid	RTeQTL
rs12118795	RIT1	cis	cerebellum	SCAN
rs12118795	YY1AP1	cis	cerebellum	SCAN
rs12118795	RIT1	cis	Thyroid	GTEx
rs12118795	PRUNE	cis	cerebellum	SCAN
rs12118795	ROBLD3	cis	parietal	SCAN
rs12118795	SNX27	cis	parietal	SCAN
rs12118795	RORC	cis	cerebellum	SCAN

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155954600-155970800	Weak transcription	NHEK	skin
2	chr1:155959200-155966000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr1:155959200-155978200	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr1:155959400-155965000	Weak transcription	Pancreas	Pancrea
5	chr1:155959400-155965800	Weak transcription	HSMMtube	muscle
6	chr1:155959400-155970800	Weak transcription	Colonic Mucosa	Colon
7	chr1:155959400-155976600	Weak transcription	Aorta	Aorta
8	chr1:155959600-155964400	Weak transcription	Fetal Intestine Large	intestine
9	chr1:155959600-155964400	Weak transcription	Fetal Intestine Small	intestine
10	chr1:155959600-155965400	Weak transcription	Right Atrium	heart
11	chr1:155959600-155970400	Weak transcription	Stomach Mucosa	stomach
12	chr1:155959600-155971000	Weak transcription	Brain Cingulate Gyrus	brain
13	chr1:155959600-155971800	Weak transcription	Gastric	stomach
14	chr1:155959800-155970400	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr1:155959800-155970600	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr1:155959800-155974600	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr1:155960800-155965400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr1:155961000-155966000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr1:155961200-155965800	Weak transcription	Brain Hippocampus Middle	brain
20	chr1:155961200-155965800	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr1:155961200-155966000	Weak transcription	K562	blood
22	chr1:155961200-155974600	Weak transcription	Lung	lung
23	chr1:155961400-155965600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr1:155961400-155966000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr1:155961600-155969600	Weak transcription	Hela-S3	cervix
26	chr1:155961800-155964400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr1:155962000-155965600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr1:155962400-155963400	Weak transcription	HepG2	liver

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