Variant report

Variant	rs213216
Chromosome Location	chr6:33219142-33219143
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:33216169-33219719	HepG2	liver:	n/a	n/a

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:33172848..33181857-chr6:33213902..33220839,20	K562	blood:
2	chr6:32942617..32945214-chr6:33216958..33219168,2	MCF-7	breast:
3	chr6:33166770..33170523-chr6:33215373..33219717,12	K562	blood:
4	chr6:33219097..33221365-chr6:33427098..33429483,3	K562	blood:
5	chr6:33204555..33207456-chr6:33217202..33219174,2	MCF-7	breast:
6	chr6:33170516..33184004-chr6:33208467..33219908,34	K562	blood:
7	chr6:33164335..33170248-chr6:33215022..33224434,19	K562	blood:
8	chr6:33218974..33221536-chr6:33235701..33237284,2	MCF-7	breast:
9	chr6:32934886..32941336-chr6:33214658..33220920,14	K562	blood:
10	chr6:32936711..32941313-chr6:33214829..33219433,9	K562	blood:
11	chr6:33215322..33223570-chr6:33237379..33242085,16	MCF-7	breast:
12	chr6:33166870..33169148-chr6:33216784..33219344,3	MCF-7	breast:
13	chr6:33217011..33220390-chr6:33230294..33232709,3	K562	blood:
14	chr6:33174728..33177255-chr6:33218937..33220577,2	MCF-7	breast:
15	chr6:33215839..33219931-chr6:33265339..33267743,5	MCF-7	breast:
16	chr6:33217871..33219670-chr6:33233287..33236131,2	K562	blood:
17	chr6:33214775..33224346-chr6:33236521..33248678,40	K562	blood:

No data

Variant related genes	Relation type
ENSG00000272217	TF binding region
ENSG00000227057	Chromatin interaction
ENSG00000204231	Chromatin interaction
ENSG00000202441	Chromatin interaction
ENSG00000235863	Chromatin interaction
ENSG00000204228	Chromatin interaction
ENSG00000112473	Chromatin interaction
ENSG00000225463	Chromatin interaction
ENSG00000223457	Chromatin interaction
ENSG00000204227	Chromatin interaction
ENSG00000237441	Chromatin interaction
ENSG00000204256	Chromatin interaction
ENSG00000199036	Chromatin interaction
ENSG00000263756	Chromatin interaction
ENSG00000223501	Chromatin interaction
ENSG00000231500	Chromatin interaction
ENSG00000204257	Chromatin interaction
ENSG00000223837	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs120626	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs213199	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs213201	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs213202	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs213204	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs213206	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs446735	0.84[ASN][1000 genomes]
rs456261	0.88[ASN][1000 genomes]
rs457565	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs463260	0.84[ASN][1000 genomes]
rs464865	0.84[ASN][1000 genomes]
rs469064	0.82[ASN][1000 genomes]
rs474353	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs576890	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9277962	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[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	nsv462893	chr6:33142539-33256471	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
2	nsv602830	chr6:33142539-33256471	Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
3	nsv830634	chr6:33161217-33330745	Flanking Active TSS Genic enhancers Active TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	139 gene(s)	inside rSNPs	diseases
4	nsv462894	chr6:33174783-33254665	Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	87 gene(s)	inside rSNPs	diseases
5	nsv602831	chr6:33174783-33254665	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	87 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs213216	HLA-DPA1	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33217400-33234200	Weak transcription	Small Intestine	intestine
2	chr6:33217800-33231200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr6:33217800-33231200	Weak transcription	Aorta	Aorta
4	chr6:33217800-33231400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr6:33218000-33219200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr6:33218000-33219200	Enhancers	Liver	Liver
7	chr6:33218000-33220000	Genic enhancers	K562	blood
8	chr6:33218000-33220200	Strong transcription	Fetal Intestine Small	intestine
9	chr6:33218000-33224800	Weak transcription	Lung	lung
10	chr6:33218000-33225000	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr6:33218000-33225000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr6:33218000-33226400	Weak transcription	Spleen	Spleen
13	chr6:33218000-33226600	Weak transcription	Ovary	ovary
14	chr6:33218000-33231200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr6:33218000-33231200	Weak transcription	Gastric	stomach
16	chr6:33218000-33231400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr6:33218000-33231600	Weak transcription	Psoas Muscle	Psoas
18	chr6:33218000-33235400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr6:33218000-33238800	Weak transcription	Right Atrium	heart
20	chr6:33218200-33219400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr6:33218200-33219400	Weak transcription	Fetal Kidney	kidney
22	chr6:33218200-33219600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr6:33218200-33219600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr6:33218200-33219600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr6:33218200-33219800	Strong transcription	Brain Inferior Temporal Lobe	brain
26	chr6:33218200-33219800	Strong transcription	Fetal Intestine Large	intestine
27	chr6:33218200-33220000	Genic enhancers	NHEK	skin
28	chr6:33218200-33220000	Genic enhancers	NHLF	lung
29	chr6:33218200-33220000	Genic enhancers	Osteobl	bone
30	chr6:33218200-33220200	Strong transcription	HUES64 Cell Line	embryonic stem cell
31	chr6:33218200-33220200	Strong transcription	Fetal Stomach	stomach
32	chr6:33218200-33223600	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr6:33218200-33226600	Weak transcription	Primary neutrophils fromperipheralblood	blood
34	chr6:33218200-33227200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr6:33218200-33231800	Weak transcription	Fetal Brain Male	brain
36	chr6:33218400-33219200	Weak transcription	Primary T cells from cord blood	blood
37	chr6:33218400-33219200	Weak transcription	Brain Anterior Caudate	brain
38	chr6:33218400-33219400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr6:33218400-33219600	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr6:33218400-33219600	Genic enhancers	HepG2	liver
41	chr6:33218400-33219800	Strong transcription	HUES6 Cell Line	embryonic stem cell
42	chr6:33218400-33219800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr6:33218400-33219800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr6:33218400-33220000	Strong transcription	Primary monocytes fromperipheralblood	blood
45	chr6:33218400-33220200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr6:33218400-33222400	Weak transcription	Brain Cingulate Gyrus	brain
47	chr6:33218400-33226200	Weak transcription	Primary B cells from cord blood	blood
48	chr6:33218400-33226600	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr6:33218400-33231200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr6:33218400-33231400	Weak transcription	Stomach Mucosa	stomach

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