Variant report

Variant	rs7118581
Chromosome Location	chr11:9647014-9647015
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:9633888..9638474-chr11:9645827..9648910,5	K562	blood:
2	chr11:9641519..9643147-chr11:9645260..9647236,2	MCF-7	breast:
3	chr11:9645722..9648644-chr11:9653953..9655586,2	K562	blood:
4	chr11:9639664..9642964-chr11:9645191..9649077,5	K562	blood:
5	chr11:9633888..9637224-chr11:9645529..9649937,4	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10743114	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10743115	0.88[EUR][1000 genomes]
rs10770043	0.83[JPT][hapmap]
rs10770047	0.90[CEU][hapmap];0.83[JPT][hapmap];0.81[EUR][1000 genomes]
rs10770053	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10840270	0.83[JPT][hapmap]
rs10840271	0.80[EUR][1000 genomes]
rs10840274	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes]
rs10840279	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11042452	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11042453	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11042454	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12273601	0.95[CEU][hapmap];0.95[CHB][hapmap];0.83[JPT][hapmap];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12361442	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12420438	0.84[JPT][hapmap]
rs1865558	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2060477	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2289074	0.95[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs4910483	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs57701122	0.98[ASN][1000 genomes]
rs7105378	0.92[EUR][1000 genomes]
rs7109545	1.00[ASN][1000 genomes]
rs7109585	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7118466	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7124238	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs715333	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs737617	0.84[AMR][1000 genomes];0.84[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	nsv553467	chr11:9518551-9648721	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv896986	chr11:9636854-9679145	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv933855	chr11:9645441-10130519	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer 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	40 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7118581	SWAP70	cis	multi-tissue	Pritchard
rs7118581	SWAP70	Cis_1M	lymphoblastoid	RTeQTL
rs7118581	SWAP70	cis	Lymphoblastoid	GTEx

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9636400-9647400	Weak transcription	Right Atrium	heart
2	chr11:9639800-9648600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr11:9641600-9647800	Weak transcription	HSMMtube	muscle
4	chr11:9645600-9647600	Enhancers	Spleen	Spleen
5	chr11:9645600-9648000	Enhancers	HUVEC	blood vessel
6	chr11:9645600-9648600	Enhancers	Primary B cells from peripheral blood	blood
7	chr11:9645800-9647400	Weak transcription	K562	blood
8	chr11:9645800-9648600	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr11:9646000-9647200	Enhancers	Primary B cells from cord blood	blood
10	chr11:9646200-9647800	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr11:9646400-9647600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr11:9646400-9649200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr11:9646600-9647200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr11:9646600-9647200	Enhancers	Brain Hippocampus Middle	brain
15	chr11:9646600-9647200	Enhancers	NHEK	skin
16	chr11:9646600-9647400	Enhancers	HMEC	breast
17	chr11:9646600-9648200	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr11:9646600-9648200	Enhancers	Adipose Nuclei	Adipose
19	chr11:9646800-9647200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr11:9646800-9647400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr11:9646800-9647600	Enhancers	Brain Cingulate Gyrus	brain
22	chr11:9646800-9647600	Enhancers	Monocytes-CD14+_RO01746	blood
23	chr11:9646800-9648000	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr11:9646800-9648000	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr11:9646800-9648200	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr11:9646800-9648200	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr11:9646800-9649400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr11:9646800-9649400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr11:9646800-9650600	Enhancers	H1 Cell Line	embryonic stem cell
30	chr11:9646800-9650600	Enhancers	GM12878-XiMat	blood
31	chr11:9647000-9647200	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr11:9647000-9647400	Enhancers	Fetal Stomach	stomach
33	chr11:9647000-9647800	Enhancers	Fetal Thymus	thymus
34	chr11:9647000-9647800	Enhancers	Left Ventricle	heart
35	chr11:9647000-9647800	Enhancers	Lung	lung
36	chr11:9647000-9648000	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr11:9647000-9648200	Weak transcription	Fetal Kidney	kidney
38	chr11:9647000-9648400	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr11:9647000-9648400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr11:9647000-9648600	Enhancers	H9 Cell Line	embryonic stem cell

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