Variant report

Variant	rs7537164
Chromosome Location	chr1:10519090-10519091
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:10517930..10519443-chr1:10532494..10534240,2	K562	blood:
2	chr1:10499422..10501446-chr1:10517848..10519583,2	MCF-7	breast:
3	chr1:10508493..10514342-chr1:10516490..10519388,5	K562	blood:
4	chr1:10488905..10491611-chr1:10518532..10520834,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000271989	Chromatin interaction
ENSG00000175279	Chromatin interaction
ENSG00000241563	Chromatin interaction
ENSG00000160049	Chromatin interaction
ENSG00000251503	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10864455	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10864456	0.91[ASN][1000 genomes]
rs1188530	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1307489	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1307490	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1307491	0.81[EUR][1000 genomes]
rs1307493	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1307494	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1307497	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1308520	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2483686	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2847336	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2847337	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4285702	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs484416	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs490037	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs490960	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs515423	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs544289	0.92[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs647281	0.84[EUR][1000 genomes]
rs6540931	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs661256	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs661272	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs666103	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs676995	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs944973	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757722	chr1:10238070-10582554	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	esv2758920	chr1:10238070-10582554	Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv817370	chr1:10305470-10697150	Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv1008021	chr1:10363794-10802633	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	esv2764192	chr1:10383734-10594186	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv1003498	chr1:10445928-10607351	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	nsv998731	chr1:10464176-10607351	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7537164	LZIC	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:10491400-10521000	Weak transcription	Ovary	ovary
2	chr1:10491400-10521200	Weak transcription	Aorta	Aorta
3	chr1:10491600-10519200	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr1:10491600-10521200	Weak transcription	Brain Substantia Nigra	brain
5	chr1:10491600-10521200	Weak transcription	Left Ventricle	heart
6	chr1:10491600-10521200	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr1:10491600-10521200	Weak transcription	Spleen	Spleen
8	chr1:10491600-10521400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr1:10491800-10520600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr1:10492000-10521200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr1:10494200-10521400	Weak transcription	Primary B cells from peripheral blood	blood
12	chr1:10499200-10531400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr1:10499400-10519200	Weak transcription	HepG2	liver
14	chr1:10500800-10522800	Weak transcription	Primary hematopoietic stem cells	blood
15	chr1:10501200-10519200	Weak transcription	Liver	Liver
16	chr1:10501200-10521400	Weak transcription	Brain Angular Gyrus	brain
17	chr1:10505200-10519200	Weak transcription	Hela-S3	cervix
18	chr1:10505200-10520600	Weak transcription	Lung	lung
19	chr1:10508800-10521200	Weak transcription	Pancreas	Pancrea
20	chr1:10509800-10521400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr1:10510600-10521200	Weak transcription	Gastric	stomach
22	chr1:10510600-10521400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr1:10510600-10531600	Weak transcription	Right Atrium	heart
24	chr1:10511200-10521200	Weak transcription	Colon Smooth Muscle	Colon
25	chr1:10511200-10522000	Weak transcription	Rectal Smooth Muscle	rectum
26	chr1:10511400-10522400	Weak transcription	Fetal Kidney	kidney
27	chr1:10511600-10521200	Weak transcription	Psoas Muscle	Psoas
28	chr1:10511600-10521400	Weak transcription	Brain Anterior Caudate	brain
29	chr1:10511600-10531600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr1:10511800-10519600	Weak transcription	Stomach Smooth Muscle	stomach
31	chr1:10511800-10521200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr1:10511800-10521200	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr1:10511800-10521400	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr1:10512000-10519200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr1:10512000-10519200	Weak transcription	NHLF	lung
36	chr1:10512000-10521400	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr1:10512400-10519200	Weak transcription	Monocytes-CD14+_RO01746	blood
38	chr1:10512400-10521000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr1:10512400-10521200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr1:10512400-10531200	Weak transcription	Fetal Brain Male	brain
41	chr1:10513200-10521400	Weak transcription	Right Ventricle	heart
42	chr1:10514800-10519600	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr1:10515200-10519200	Weak transcription	Thymus	Thymus
44	chr1:10515200-10521200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr1:10515200-10521200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr1:10515600-10522400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr1:10516000-10530200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
48	chr1:10516000-10530200	Strong transcription	Fetal Stomach	stomach
49	chr1:10516200-10519400	Enhancers	NHDF-Ad	bronchial
50	chr1:10516200-10519600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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