Variant report

Variant	rs2622413
Chromosome Location	chr11:63937949-63937950
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF384	chr11:63937938-63938198	K562	blood:	n/a	n/a
2	HDAC2	chr11:63937918-63938195	HepG2	liver:	n/a	chr11:63938004-63938018 chr11:63938003-63938017 chr11:63937973-63937987 chr11:63937974-63937988 chr11:63937970-63937984 chr11:63937972-63937986 chr11:63937971-63937985

No.	Distal block	Cell Line	Cell type
1	chr11:63935207..63938760-chr11:63941308..63944711,4	K562	blood:
2	chr11:63929801..63939249-chr11:63945151..63958671,77	MCF-7	breast:
3	chr11:63931523..63935240-chr11:63936088..63939401,5	K562	blood:
4	chr11:63937845..63939511-chr11:63948903..63950480,2	K562	blood:

Variant related genes	Relation type
MACROD1	TF binding region
ENSG00000133315	Chromatin interaction
ENSG00000168439	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs2246552	0.89[ASW][hapmap];0.96[LWK][hapmap];1.00[MKK][hapmap];0.86[YRI][hapmap];0.87[AMR][1000 genomes]
rs2254599	0.86[YRI][hapmap]
rs2254709	0.86[YRI][hapmap]
rs2325785	0.87[AMR][1000 genomes]
rs2429457	1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs2508208	0.82[AFR][1000 genomes]
rs2515239	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs2515240	1.00[ASW][hapmap];0.96[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs2622414	0.80[YRI][hapmap];0.87[AMR][1000 genomes]
rs2622415	1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs2622416	1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs2622421	1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs2622423	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs2622431	0.89[ASW][hapmap];0.88[LWK][hapmap];1.00[MKK][hapmap];0.86[YRI][hapmap]
rs2701525	1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs2701526	0.84[YRI][hapmap];0.92[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs2701528	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs2701529	1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs2701532	0.87[AMR][1000 genomes]
rs2701535	0.89[ASW][hapmap];0.88[LWK][hapmap];1.00[MKK][hapmap];0.86[YRI][hapmap];0.87[AMR][1000 genomes]
rs2701538	0.86[YRI][hapmap];0.87[AMR][1000 genomes]
rs2845587	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs2845589	1.00[ASW][hapmap];1.00[LWK][hapmap];0.81[MKK][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs2845591	1.00[ASW][hapmap];0.96[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs2845595	0.85[YRI][hapmap];0.87[AMR][1000 genomes]
rs2845598	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs35525149	0.92[AFR][1000 genomes]
rs4294564	0.92[AFR][1000 genomes]
rs4379854	0.89[ASW][hapmap];0.83[LWK][hapmap];0.86[YRI][hapmap]
rs4587731	0.92[AFR][1000 genomes]
rs4980526	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs60647009	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs611637	0.89[ASW][hapmap];0.96[LWK][hapmap];0.93[YRI][hapmap];0.85[AFR][1000 genomes]
rs620818	0.85[AFR][1000 genomes]
rs633557	0.93[YRI][hapmap];0.87[AFR][1000 genomes]
rs633561	0.81[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897631	chr11:63664882-64129722	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	254 gene(s)	inside rSNPs	diseases
2	esv1802079	chr11:63746066-64151373	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	247 gene(s)	inside rSNPs	diseases
3	nsv897646	chr11:63754986-64150370	Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	245 gene(s)	inside rSNPs	diseases
4	nsv1035875	chr11:63800238-64132030	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	234 gene(s)	inside rSNPs	diseases
5	nsv832185	chr11:63819946-63963532	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	89 gene(s)	inside rSNPs	diseases
6	nsv469961	chr11:63822940-64085967	Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	224 gene(s)	inside rSNPs	diseases
7	nsv897660	chr11:63860826-64125142	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	231 gene(s)	inside rSNPs	diseases
8	nsv897661	chr11:63863405-64129722	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	233 gene(s)	inside rSNPs	diseases
9	nsv897662	chr11:63889749-64150370	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	237 gene(s)	inside rSNPs	diseases
10	esv1801661	chr11:63894054-63937949	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
11	nsv897663	chr11:63910153-63962152	Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	86 gene(s)	inside rSNPs	n/a
12	nsv897664	chr11:63919742-64150370	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	237 gene(s)	inside rSNPs	diseases
13	nsv468592	chr11:63924446-64042997	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	166 gene(s)	inside rSNPs	diseases
14	nsv555184	chr11:63924446-64042997	Genic enhancers Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	166 gene(s)	inside rSNPs	diseases
15	nsv897665	chr11:63927695-64026144	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	155 gene(s)	inside rSNPs	diseases
16	nsv897666	chr11:63929493-64026144	Enhancers Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	155 gene(s)	inside rSNPs	diseases
17	nsv869944	chr11:63932152-64123062	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	227 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2622413	HBD	trans	lymphoblastoid	seeQTL
rs2622413	NUDT22	cis	lymphoblastoid	seeQTL

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63934200-63938000	Weak transcription	Colonic Mucosa	Colon
2	chr11:63934200-63941000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr11:63934200-63941200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:63934200-63941200	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr11:63934200-63948000	Weak transcription	Right Ventricle	heart
6	chr11:63934200-63948200	Weak transcription	Brain Angular Gyrus	brain
7	chr11:63934200-63948200	Weak transcription	Esophagus	oesophagus
8	chr11:63934200-63948200	Weak transcription	Stomach Mucosa	stomach
9	chr11:63934200-63948800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr11:63934200-63950800	Weak transcription	Gastric	stomach
11	chr11:63934400-63939000	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr11:63934400-63941200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr11:63934400-63941200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr11:63934400-63944200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr11:63934400-63948000	Weak transcription	Right Atrium	heart
16	chr11:63934600-63938000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr11:63934600-63941000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr11:63934600-63941200	Weak transcription	Fetal Muscle Leg	muscle
19	chr11:63934600-63944400	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr11:63935000-63948200	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr11:63935600-63941200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr11:63935600-63946400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr11:63935800-63947400	Weak transcription	Stomach Smooth Muscle	stomach
24	chr11:63935800-63948000	Weak transcription	Pancreas	Pancrea
25	chr11:63936200-63941200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr11:63936200-63941200	Weak transcription	K562	blood
27	chr11:63937200-63938000	Enhancers	HepG2	liver
28	chr11:63937600-63946800	Weak transcription	A549	lung

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