Variant report

Variant	rs10908483
Chromosome Location	chr1:155866834-155866835
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	chr1:155864077..155867922-chr1:155886880..155891317,4	MCF-7	breast:
2	chr1:155862181..155863978-chr1:155864920..155867045,2	K562	blood:

Variant related genes	Relation type
ENSG00000132680	Chromatin interaction
ENSG00000207475	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10796955	0.80[AMR][1000 genomes]
rs12026057	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12037177	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12080846	0.89[AFR][1000 genomes]
rs12091273	0.86[AFR][1000 genomes]
rs12091361	0.88[AFR][1000 genomes]
rs12144175	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1889532	0.80[AMR][1000 genomes]
rs1889533	0.80[AMR][1000 genomes]
rs2016251	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2282301	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2297649	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2364403	0.88[AFR][1000 genomes]
rs66466805	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs66669006	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6667652	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6670477	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6696019	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72708205	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7528441	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7545308	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs867548	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs867549	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs867550	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs915181	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]

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	esv33869	chr1:155223283-155917961	Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
2	esv3423892	chr1:155664084-155901487	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	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:3)

SNP	Gene	Cis/trans	Tissue	Source
rs10908483	RIT1	Cis_1M	lymphoblastoid	RTeQTL
rs10908483	GON4L	Cis_1M	lymphoblastoid	RTeQTL
rs10908483	RIT1	cis	Thyroid	GTEx

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155830000-155869000	Weak transcription	Gastric	stomach
2	chr1:155841800-155869200	Weak transcription	Right Ventricle	heart
3	chr1:155844400-155874000	Weak transcription	Fetal Brain Male	brain
4	chr1:155850600-155873600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:155851400-155867400	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr1:155851600-155870200	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr1:155854200-155868600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr1:155854400-155873600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr1:155854800-155868800	Weak transcription	Ovary	ovary
10	chr1:155862800-155873600	Weak transcription	Psoas Muscle	Psoas
11	chr1:155863000-155869600	Weak transcription	Fetal Heart	heart
12	chr1:155863200-155870000	Weak transcription	Colonic Mucosa	Colon
13	chr1:155863400-155867400	Weak transcription	Dnd41	blood
14	chr1:155863400-155868800	Weak transcription	Colon Smooth Muscle	Colon
15	chr1:155863400-155868800	Weak transcription	Left Ventricle	heart
16	chr1:155863400-155873600	Weak transcription	Stomach Mucosa	stomach
17	chr1:155863400-155880200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr1:155863600-155868400	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr1:155863800-155868800	Weak transcription	Brain Substantia Nigra	brain
20	chr1:155863800-155874000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr1:155864000-155867400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr1:155864000-155867400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr1:155864000-155867400	Weak transcription	Primary T cells from cord blood	blood
24	chr1:155864000-155867400	Weak transcription	Primary hematopoietic stem cells	blood
25	chr1:155864000-155867400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr1:155864000-155867400	Weak transcription	Brain Cingulate Gyrus	brain
27	chr1:155864000-155867400	Weak transcription	Fetal Lung	lung
28	chr1:155864000-155867400	Weak transcription	K562	blood
29	chr1:155864000-155868400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr1:155864000-155868800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr1:155864000-155868800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr1:155864000-155868800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr1:155864000-155868800	Weak transcription	Fetal Kidney	kidney
34	chr1:155864000-155868800	Weak transcription	Rectal Smooth Muscle	rectum
35	chr1:155864000-155868800	Weak transcription	Small Intestine	intestine
36	chr1:155864000-155869000	Weak transcription	Aorta	Aorta
37	chr1:155864000-155869000	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr1:155864200-155867400	Weak transcription	NHDF-Ad	bronchial
39	chr1:155864200-155868400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr1:155864200-155868400	Weak transcription	Brain Germinal Matrix	brain
41	chr1:155864200-155868600	Weak transcription	HMEC	breast
42	chr1:155864200-155868800	Weak transcription	Hela-S3	cervix
43	chr1:155864200-155869000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr1:155864200-155869000	Weak transcription	HepG2	liver
45	chr1:155864200-155869000	Weak transcription	HSMMtube	muscle
46	chr1:155864600-155867000	Weak transcription	HUVEC	blood vessel
47	chr1:155864600-155867200	Strong transcription	Fetal Intestine Small	intestine
48	chr1:155864800-155867400	Strong transcription	Fetal Stomach	stomach
49	chr1:155864800-155868800	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr1:155865000-155875400	Strong transcription	Fetal Brain Female	brain

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