Variant report

Variant	rs1749410
Chromosome Location	chr1:155844065-155844066
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	chr1:155837073..155839733-chr1:155842304..155845191,2	MCF-7	breast:
2	chr1:155837120..155838717-chr1:155843682..155845492,2	MCF-7	breast:

Extended variants
information (count: 22 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs12024880	0.82[ASN][1000 genomes]
rs12027412	0.82[ASN][1000 genomes]
rs12563627	0.87[ASN][1000 genomes]
rs1749405	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2993207	0.88[ASN][1000 genomes]
rs4661151	0.82[ASN][1000 genomes]
rs488079	0.82[ASN][1000 genomes]
rs539602	0.82[ASN][1000 genomes]
rs625658	0.82[ASN][1000 genomes]
rs656247	0.84[ASN][1000 genomes]
rs656737	0.85[ASN][1000 genomes]
rs729022	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7517204	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7538214	0.87[ASN][1000 genomes]
rs822490	0.84[EUR][1000 genomes]
rs822504	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs822505	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs822508	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs822509	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1749410	RIT1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155830000-155869000	Weak transcription	Gastric	stomach
2	chr1:155830400-155865800	Weak transcription	Esophagus	oesophagus
3	chr1:155830600-155850200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr1:155830600-155866800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr1:155830800-155850400	Weak transcription	Adipose Nuclei	Adipose
6	chr1:155830800-155852000	Weak transcription	Primary B cells from peripheral blood	blood
7	chr1:155831000-155848800	Weak transcription	Fetal Intestine Large	intestine
8	chr1:155831000-155849200	Weak transcription	Primary hematopoietic stem cells	blood
9	chr1:155831000-155850000	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr1:155831000-155851000	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr1:155831000-155862600	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr1:155831000-155862800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr1:155831000-155863000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr1:155831200-155862800	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr1:155831400-155859000	Weak transcription	HUVEC	blood vessel
16	chr1:155834600-155850200	Weak transcription	HSMM	muscle
17	chr1:155836400-155866400	Weak transcription	Primary B cells from cord blood	blood
18	chr1:155837400-155844400	Enhancers	Fetal Brain Male	brain
19	chr1:155837600-155863000	Weak transcription	Colonic Mucosa	Colon
20	chr1:155840000-155850200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr1:155840400-155850000	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr1:155841200-155849600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr1:155841200-155850200	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr1:155841400-155844400	Weak transcription	Pancreas	Pancrea
25	chr1:155841400-155849600	Weak transcription	Aorta	Aorta
26	chr1:155841400-155850000	Weak transcription	NHLF	lung
27	chr1:155841400-155850200	Weak transcription	Ovary	ovary
28	chr1:155841400-155863000	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr1:155841600-155849400	Weak transcription	Stomach Smooth Muscle	stomach
30	chr1:155841600-155849800	Weak transcription	Left Ventricle	heart
31	chr1:155841600-155850200	Weak transcription	Colon Smooth Muscle	Colon
32	chr1:155841600-155850600	Weak transcription	NHDF-Ad	bronchial
33	chr1:155841800-155847800	Weak transcription	Fetal Intestine Small	intestine
34	chr1:155841800-155850000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr1:155841800-155850200	Weak transcription	HSMMtube	muscle
36	chr1:155841800-155850400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr1:155841800-155850600	Weak transcription	Spleen	Spleen
38	chr1:155841800-155869200	Weak transcription	Right Ventricle	heart
39	chr1:155842400-155844400	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr1:155842600-155863400	Weak transcription	Right Atrium	heart
41	chr1:155842800-155844200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr1:155842800-155844400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr1:155842800-155850200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr1:155842800-155852600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr1:155842800-155853400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr1:155843200-155844200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr1:155843400-155844200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr1:155843400-155844200	Enhancers	Muscle Satellite Cultured Cells	--
49	chr1:155843400-155844200	Enhancers	NH-A	brain
50	chr1:155843800-155844200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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