Variant report

Variant	rs4296062
Chromosome Location	chr11:85529183-85529184
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:85528152..85530111-chr11:85537242..85539154,2	K562	blood:

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs11826218	1.00[ASN][1000 genomes]
rs11828105	1.00[ASN][1000 genomes]
rs1445498	0.92[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1445500	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1445501	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1445503	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1445504	0.82[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs1445505	0.86[ASN][1000 genomes]
rs1445511	1.00[ASN][1000 genomes]
rs17744606	1.00[ASN][1000 genomes]
rs17744675	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs17744699	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs17744711	0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs17817230	1.00[ASN][1000 genomes]
rs17817254	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17817308	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs17817314	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs17817326	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs17817331	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs17817343	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs17817355	0.86[ASN][1000 genomes]
rs2044390	1.00[ASN][1000 genomes]
rs4015260	1.00[ASN][1000 genomes]
rs55951560	1.00[ASN][1000 genomes]
rs55978615	1.00[ASN][1000 genomes]
rs56036199	1.00[ASN][1000 genomes]
rs56202113	1.00[ASN][1000 genomes]
rs56261432	1.00[ASN][1000 genomes]
rs56396016	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs59179556	1.00[ASN][1000 genomes]
rs60135492	1.00[ASN][1000 genomes]
rs7102361	0.93[ASN][1000 genomes]
rs7121363	1.00[ASN][1000 genomes]
rs7127478	1.00[ASN][1000 genomes]
rs7127501	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7127873	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7931698	1.00[ASN][1000 genomes]
rs7931771	1.00[ASN][1000 genomes]
rs7943104	1.00[ASN][1000 genomes]
rs7950738	1.00[ASN][1000 genomes]
rs895256	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051155	chr11:85006564-85721261	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
2	nsv541110	chr11:85006564-85721261	Enhancers Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
3	esv2758279	chr11:85180480-85603988	Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Strong transcription 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 target site	56 gene(s)	inside rSNPs	diseases
4	esv2759845	chr11:85180480-85603988	Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Strong transcription 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 target site	56 gene(s)	inside rSNPs	diseases
5	nsv832222	chr11:85405712-85603981	Enhancers Active TSS Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv1047147	chr11:85459235-85594800	Flanking Active TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
7	nsv541114	chr11:85459235-85594800	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
8	esv2762927	chr11:85468051-85559618	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
9	nsv1052737	chr11:85477084-85554914	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	nsv541115	chr11:85477084-85554914	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
11	nsv1049630	chr11:85486866-85535123	Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
12	nsv1035489	chr11:85502953-85778229	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
13	nsv1048818	chr11:85524635-85746473	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
14	nsv541116	chr11:85524635-85746473	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:85522600-85533200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr11:85524400-85532600	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr11:85524800-85537200	Weak transcription	Small Intestine	intestine
4	chr11:85525200-85529600	Enhancers	Muscle Satellite Cultured Cells	--
5	chr11:85525600-85530000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr11:85526800-85532200	Weak transcription	A549	lung
7	chr11:85526800-85532400	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr11:85527000-85532400	Weak transcription	HMEC	breast
9	chr11:85527200-85533200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr11:85527400-85532400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr11:85527600-85532200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr11:85527600-85532400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr11:85527600-85532400	Weak transcription	Osteobl	bone
14	chr11:85528000-85532600	Weak transcription	HSMM	muscle
15	chr11:85528200-85532800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr11:85528400-85532400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr11:85528400-85532800	Weak transcription	NHLF	lung
18	chr11:85528600-85529200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr11:85528600-85529200	Enhancers	Brain Inferior Temporal Lobe	brain
20	chr11:85528600-85529400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr11:85528800-85529200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
22	chr11:85528800-85532600	Weak transcription	NHDF-Ad	bronchial
23	chr11:85529000-85532400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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