Variant report

Variant	rs6811851
Chromosome Location	chr4:7911771-7911772
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:7909759..7912161-chr4:7939233..7941760,2	MCF-7	breast:
2	chr4:7907878..7909854-chr4:7910012..7912974,3	MCF-7	breast:
3	chr4:7909447..7912567-chr4:7940305..7942478,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000196526	Chromatin interaction
ENSG00000228919	Chromatin interaction

Extended variants
information (count: 66 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs12641498	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13127935	0.83[EUR][1000 genomes]
rs13139805	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13140108	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13151529	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1317111	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1320070	0.92[ASN][1000 genomes]
rs1320071	0.92[ASN][1000 genomes]
rs1320074	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1320075	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13435730	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17770447	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17833038	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1878325	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2385898	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2385900	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2385901	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2385902	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2385908	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2385909	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2385910	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28370977	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28464089	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28489592	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28631205	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28715921	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28726254	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28734123	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28795989	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2891928	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34179701	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34317049	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34505548	0.85[AMR][1000 genomes]
rs34685551	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34701321	0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs34984446	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35661042	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4627847	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4696746	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4696778	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4696779	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4696780	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4696795	0.84[ASN][1000 genomes]
rs55937650	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57831033	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6824410	0.82[EUR][1000 genomes]
rs6839119	0.82[EUR][1000 genomes]
rs6844956	0.82[EUR][1000 genomes]
rs6846317	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6848540	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6857814	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7437940	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7437984	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7441569	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7655918	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7663205	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7686202	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7687431	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7694650	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9330348	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs938604	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491712	chr4:7582506-8155069	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	esv34140	chr4:7787936-8172491	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
3	esv2754386	chr4:7822449-7992909	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv2756298	chr4:7822449-7992909	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv878578	chr4:7841833-7969594	Enhancers Flanking Active TSS Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6811851	AFAP1	cis	Whole Blood	GTEx

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7894200-7912400	Weak transcription	Fetal Intestine Large	intestine
2	chr4:7899800-7930600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr4:7900200-7912400	Weak transcription	NHEK	skin
4	chr4:7900800-7914400	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr4:7901600-7914400	Enhancers	Fetal Muscle Leg	muscle
6	chr4:7903600-7915000	Enhancers	Fetal Stomach	stomach
7	chr4:7904800-7912200	Weak transcription	Duodenum Mucosa	Duodenum
8	chr4:7905200-7911800	Weak transcription	Aorta	Aorta
9	chr4:7905600-7912400	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr4:7906000-7914200	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr4:7906200-7914400	Enhancers	HUVEC	blood vessel
12	chr4:7907000-7912400	Weak transcription	Left Ventricle	heart
13	chr4:7907800-7911800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr4:7907800-7912200	Weak transcription	Brain Substantia Nigra	brain
15	chr4:7907800-7912200	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr4:7907800-7914200	Enhancers	Brain Germinal Matrix	brain
17	chr4:7907800-7935800	Weak transcription	Right Ventricle	heart
18	chr4:7908000-7911800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr4:7908000-7911800	Enhancers	Colon Smooth Muscle	Colon
20	chr4:7908000-7912200	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr4:7908000-7912600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr4:7908000-7912800	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr4:7908200-7912600	Enhancers	HepG2	liver
24	chr4:7908400-7911800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr4:7908400-7912200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr4:7908400-7912400	Weak transcription	Fetal Intestine Small	intestine
27	chr4:7908800-7911800	Weak transcription	Fetal Muscle Trunk	muscle
28	chr4:7909200-7912200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr4:7909200-7912800	Weak transcription	Fetal Kidney	kidney
30	chr4:7909200-7925400	Weak transcription	Hela-S3	cervix
31	chr4:7909400-7911800	Weak transcription	Right Atrium	heart
32	chr4:7909400-7912400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr4:7909800-7912400	Enhancers	HSMMtube	muscle
34	chr4:7909800-7912600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr4:7910000-7912400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
36	chr4:7910200-7912600	Enhancers	Primary T helper cells PMA-I stimulated	--
37	chr4:7910400-7911800	Enhancers	Fetal Lung	lung
38	chr4:7910400-7912000	Enhancers	Primary T helper naive cells from peripheral blood	blood
39	chr4:7910400-7912400	Enhancers	Rectal Smooth Muscle	rectum
40	chr4:7910400-7912600	Enhancers	Primary T helper cells fromperipheralblood	blood
41	chr4:7910400-7913400	Enhancers	H9 Cell Line	embryonic stem cell
42	chr4:7910600-7911800	Enhancers	HSMM	muscle
43	chr4:7910600-7912400	Enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr4:7910600-7912800	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr4:7910800-7912400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr4:7910800-7912400	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr4:7910800-7913400	Enhancers	Stomach Mucosa	stomach
48	chr4:7910800-7913600	Flanking Active TSS	A549	lung
49	chr4:7910800-7913800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr4:7910800-7913800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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