Variant report

Variant	rs13212218
Chromosome Location	chr6:38646409-38646410
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:38640160..38642100-chr6:38645505..38647070,2	K562	blood:
2	chr6:38644111..38646637-chr6:38648252..38652003,4	K562	blood:

Variant related genes	Relation type
ENSG00000124767	Chromatin interaction

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs10484855	0.88[CEU][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1130534	0.85[EUR][1000 genomes]
rs11751782	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12206711	1.00[ASN][1000 genomes]
rs12212784	1.00[ASN][1000 genomes]
rs13191302	0.88[CEU][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13194237	0.90[EUR][1000 genomes]
rs13196530	0.88[CEU][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13196708	0.88[CEU][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13198900	0.88[CEU][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13199033	1.00[CEU][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13202862	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13203443	0.88[CEU][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13207160	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13209846	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13210334	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13213257	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13214969	0.89[EUR][1000 genomes]
rs13215896	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13217234	0.88[CEU][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13218305	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13219252	0.88[CEU][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13219395	0.88[CEU][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13219781	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1698998	1.00[ASN][1000 genomes]
rs17544311	0.88[CEU][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17544868	1.00[CEU][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1937782	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2654449	1.00[ASN][1000 genomes]
rs28360530	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34349982	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34360712	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34408317	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34470929	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34519749	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34637217	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34695044	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34897279	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34962226	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34971977	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35147121	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35152718	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35207097	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35266471	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35364976	0.92[EUR][1000 genomes]
rs35388596	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35901431	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35975219	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67457665	1.00[ASN][1000 genomes]
rs6932648	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs71544423	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71571331	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71571332	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71571336	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72856580	1.00[ASN][1000 genomes]
rs73416349	1.00[ASN][1000 genomes]
rs73416350	1.00[ASN][1000 genomes]
rs73416351	1.00[ASN][1000 genomes]
rs7451595	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7604	1.00[CEU][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7746400	1.00[ASN][1000 genomes]
rs7750789	1.00[ASN][1000 genomes]
rs7762397	1.00[ASN][1000 genomes]
rs9369075	0.83[EUR][1000 genomes]
rs9394523	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs9394524	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs9462450	0.83[EUR][1000 genomes]
rs963720	0.88[CEU][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[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	nsv1021991	chr6:37893949-38738720	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv885817	chr6:38036420-39019503	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	esv2758049	chr6:38588969-38711085	Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	esv2759421	chr6:38588969-38711085	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	nsv427754	chr6:38588969-38711085	Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
6	nsv428144	chr6:38588969-38711085	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
7	nsv830642	chr6:38645056-38800657	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:38612800-38648400	Weak transcription	Brain Anterior Caudate	brain
2	chr6:38612800-38652800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr6:38614800-38654800	Weak transcription	Brain Angular Gyrus	brain
4	chr6:38615200-38649400	Weak transcription	Fetal Brain Male	brain
5	chr6:38640000-38649400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr6:38640000-38649400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr6:38640000-38652400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr6:38640200-38650200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr6:38641000-38654800	Weak transcription	Fetal Heart	heart
10	chr6:38641200-38670000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr6:38641400-38649400	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr6:38641600-38668000	Weak transcription	NHLF	lung
13	chr6:38641800-38649400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr6:38641800-38650600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr6:38641800-38651000	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr6:38641800-38654800	Weak transcription	Pancreas	Pancrea
17	chr6:38642000-38648400	Weak transcription	Small Intestine	intestine
18	chr6:38642000-38650800	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr6:38642000-38652600	Weak transcription	Stomach Mucosa	stomach
20	chr6:38642000-38657600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr6:38642200-38651400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr6:38642200-38652200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr6:38642200-38656400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr6:38642400-38647200	Strong transcription	Adipose Nuclei	Adipose
25	chr6:38642400-38647200	Strong transcription	Fetal Intestine Large	intestine
26	chr6:38642400-38647400	Strong transcription	Cortex derived primary cultured neurospheres	brain
27	chr6:38642400-38647600	Strong transcription	Fetal Thymus	thymus
28	chr6:38642400-38648400	Strong transcription	HepG2	liver
29	chr6:38642400-38649800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr6:38642400-38650200	Strong transcription	Fetal Muscle Trunk	muscle
31	chr6:38642400-38651200	Strong transcription	Fetal Lung	lung
32	chr6:38642400-38652000	Strong transcription	Fetal Muscle Leg	muscle
33	chr6:38642400-38652400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr6:38642400-38653600	Strong transcription	Primary T helper cells fromperipheralblood	blood
35	chr6:38642400-38653800	Strong transcription	Dnd41	blood
36	chr6:38642400-38654000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr6:38642400-38654800	Weak transcription	Psoas Muscle	Psoas
38	chr6:38642400-38655200	Strong transcription	NHEK	skin
39	chr6:38642400-38657000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr6:38642400-38660000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr6:38642400-38665600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr6:38642600-38646800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr6:38642600-38646800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
44	chr6:38642600-38646800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr6:38642600-38647200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr6:38642600-38647400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr6:38642600-38647400	Strong transcription	Thymus	Thymus
48	chr6:38642600-38648200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr6:38642600-38650000	Strong transcription	Hela-S3	cervix
50	chr6:38642600-38651800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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