Variant report

Variant	rs7528441
Chromosome Location	chr1:155843256-155843257
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:155837073..155839733-chr1:155842304..155845191,2	MCF-7	breast:

Extended variants
information (count: 20 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10908483	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12026057	0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12037177	0.88[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12144175	0.87[AMR][1000 genomes]
rs2016251	0.80[AMR][1000 genomes]
rs2282301	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3820594	0.81[AMR][1000 genomes]
rs66466805	0.88[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs66669006	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6670477	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6696019	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72708205	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7545308	0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs867548	0.88[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs867549	0.88[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs867550	0.88[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs915181	0.82[AMR][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
rs7528441	RIT1	Cis_1M	lymphoblastoid	RTeQTL
rs7528441	RIT1	cis	Thyroid	GTEx
rs7528441	GON4L	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155830000-155869000	Weak transcription	Gastric	stomach
2	chr1:155830400-155843800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:155830400-155843800	Weak transcription	Lung	lung
4	chr1:155830400-155865800	Weak transcription	Esophagus	oesophagus
5	chr1:155830600-155850200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr1:155830600-155866800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr1:155830800-155850400	Weak transcription	Adipose Nuclei	Adipose
8	chr1:155830800-155852000	Weak transcription	Primary B cells from peripheral blood	blood
9	chr1:155831000-155848800	Weak transcription	Fetal Intestine Large	intestine
10	chr1:155831000-155849200	Weak transcription	Primary hematopoietic stem cells	blood
11	chr1:155831000-155850000	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr1:155831000-155851000	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr1:155831000-155862600	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr1:155831000-155862800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr1:155831000-155863000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr1:155831200-155862800	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr1:155831400-155859000	Weak transcription	HUVEC	blood vessel
18	chr1:155834600-155850200	Weak transcription	HSMM	muscle
19	chr1:155836400-155866400	Weak transcription	Primary B cells from cord blood	blood
20	chr1:155837400-155844400	Enhancers	Fetal Brain Male	brain
21	chr1:155837600-155863000	Weak transcription	Colonic Mucosa	Colon
22	chr1:155838200-155843400	Weak transcription	Osteobl	bone
23	chr1:155839800-155843400	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr1:155840000-155850200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr1:155840400-155850000	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr1:155841200-155843800	Enhancers	Brain Substantia Nigra	brain
27	chr1:155841200-155849600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr1:155841200-155850200	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr1:155841400-155843800	Flanking Active TSS	Fetal Brain Female	brain
30	chr1:155841400-155844400	Weak transcription	Pancreas	Pancrea
31	chr1:155841400-155849600	Weak transcription	Aorta	Aorta
32	chr1:155841400-155850000	Weak transcription	NHLF	lung
33	chr1:155841400-155850200	Weak transcription	Ovary	ovary
34	chr1:155841400-155863000	Weak transcription	Primary monocytes fromperipheralblood	blood
35	chr1:155841600-155843400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr1:155841600-155843400	Weak transcription	NH-A	brain
37	chr1:155841600-155849400	Weak transcription	Stomach Smooth Muscle	stomach
38	chr1:155841600-155849800	Weak transcription	Left Ventricle	heart
39	chr1:155841600-155850200	Weak transcription	Colon Smooth Muscle	Colon
40	chr1:155841600-155850600	Weak transcription	NHDF-Ad	bronchial
41	chr1:155841800-155843800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr1:155841800-155843800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr1:155841800-155847800	Weak transcription	Fetal Intestine Small	intestine
44	chr1:155841800-155850000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr1:155841800-155850200	Weak transcription	HSMMtube	muscle
46	chr1:155841800-155850400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr1:155841800-155850600	Weak transcription	Spleen	Spleen
48	chr1:155841800-155869200	Weak transcription	Right Ventricle	heart
49	chr1:155842000-155843400	Weak transcription	Fetal Stomach	stomach
50	chr1:155842400-155844400	Enhancers	Cortex derived primary cultured neurospheres	brain

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