Variant report

Variant	rs7538214
Chromosome Location	chr1:155866159-155866160
allele	C/G
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: 26 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11264422	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12024880	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12027412	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12563627	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1749405	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1749410	0.87[ASN][1000 genomes]
rs2993207	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4661151	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4661175	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs488079	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs490498	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs539602	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs625658	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs639398	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs656247	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs656737	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs670523	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs729022	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7517204	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs822504	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs822505	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs822508	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs822509	0.84[AMR][1000 genomes];0.87[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
rs7538214	RIT1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155830000-155869000	Weak transcription	Gastric	stomach
2	chr1:155830600-155866800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr1:155836400-155866400	Weak transcription	Primary B cells from cord blood	blood
4	chr1:155841800-155869200	Weak transcription	Right Ventricle	heart
5	chr1:155844400-155874000	Weak transcription	Fetal Brain Male	brain
6	chr1:155847600-155866400	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr1:155850600-155873600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:155851400-155866400	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr1:155851400-155867400	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr1:155851600-155866800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr1:155851600-155870200	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr1:155854200-155868600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr1:155854400-155866200	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr1:155854400-155866400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr1:155854400-155873600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr1:155854800-155868800	Weak transcription	Ovary	ovary
17	chr1:155861600-155866600	Weak transcription	GM12878-XiMat	blood
18	chr1:155862800-155873600	Weak transcription	Psoas Muscle	Psoas
19	chr1:155863000-155869600	Weak transcription	Fetal Heart	heart
20	chr1:155863200-155870000	Weak transcription	Colonic Mucosa	Colon
21	chr1:155863400-155866200	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr1:155863400-155866400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr1:155863400-155867400	Weak transcription	Dnd41	blood
24	chr1:155863400-155868800	Weak transcription	Colon Smooth Muscle	Colon
25	chr1:155863400-155868800	Weak transcription	Left Ventricle	heart
26	chr1:155863400-155873600	Weak transcription	Stomach Mucosa	stomach
27	chr1:155863400-155880200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr1:155863600-155866600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr1:155863600-155866600	Weak transcription	Brain Angular Gyrus	brain
30	chr1:155863600-155868400	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr1:155863800-155868800	Weak transcription	Brain Substantia Nigra	brain
32	chr1:155863800-155874000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr1:155864000-155866200	Weak transcription	NHLF	lung
34	chr1:155864000-155866400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr1:155864000-155866400	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr1:155864000-155866400	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr1:155864000-155867400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr1:155864000-155867400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr1:155864000-155867400	Weak transcription	Primary T cells from cord blood	blood
40	chr1:155864000-155867400	Weak transcription	Primary hematopoietic stem cells	blood
41	chr1:155864000-155867400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr1:155864000-155867400	Weak transcription	Brain Cingulate Gyrus	brain
43	chr1:155864000-155867400	Weak transcription	Fetal Lung	lung
44	chr1:155864000-155867400	Weak transcription	K562	blood
45	chr1:155864000-155868400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr1:155864000-155868800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr1:155864000-155868800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr1:155864000-155868800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr1:155864000-155868800	Weak transcription	Fetal Kidney	kidney
50	chr1:155864000-155868800	Weak transcription	Rectal Smooth Muscle	rectum

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