Variant report

Variant	rs3016342
Chromosome Location	chr11:65243088-65243089
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:65242599..65245395-chr11:65319564..65322395,2	MCF-7	breast:
2	chr11:65178877..65218546-chr11:65218612..65286191,1014	K562	blood:
3	chr11:65242930..65245954-chr11:65312458..65315573,3	K562	blood:
4	chr11:65242924..65245419-chr11:65340092..65341743,2	K562	blood:
5	chr11:65242558..65245354-chr20:55841002..55843894,2	MCF-7	breast:
6	chr11:65148785..65152547-chr11:65241836..65246912,8	K562	blood:

Variant related genes	Relation type
ENSG00000226308	Chromatin interaction
ENSG00000101144	Chromatin interaction
ENSG00000245532	Chromatin interaction
ENSG00000168056	Chromatin interaction
ENSG00000162241	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10896002	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1194758	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12800581	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1784099	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1787666	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2957267	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2957270	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2957271	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3132769	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3132770	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35940245	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs550894	0.84[ASN][1000 genomes]
rs616599	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs667196	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs679643	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs686320	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72643572	0.86[AFR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526181	chr11:64638041-65257329	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1539 gene(s)	inside rSNPs	diseases
2	esv2422285	chr11:65013294-65254540	Genic enhancers Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	474 gene(s)	inside rSNPs	diseases
3	nsv897715	chr11:65083491-65427346	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS 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	984 gene(s)	inside rSNPs	diseases
4	nsv897716	chr11:65083491-65481166	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS 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	999 gene(s)	inside rSNPs	diseases
5	nsv541065	chr11:65117387-65271894	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	835 gene(s)	inside rSNPs	diseases
6	esv1829999	chr11:65136686-65343124	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	963 gene(s)	inside rSNPs	diseases
7	nsv897717	chr11:65140209-65278461	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	942 gene(s)	inside rSNPs	diseases
8	nsv897718	chr11:65140209-65577516	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1003 gene(s)	inside rSNPs	diseases
9	nsv541066	chr11:65142779-65271894	Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	833 gene(s)	inside rSNPs	diseases
10	nsv541067	chr11:65142779-65313799	Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	950 gene(s)	inside rSNPs	diseases
11	nsv541068	chr11:65142779-65331136	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	953 gene(s)	inside rSNPs	diseases
12	nsv541069	chr11:65142779-65368787	Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	965 gene(s)	inside rSNPs	diseases
13	nsv541070	chr11:65142779-65397058	Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent Enhancer Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	972 gene(s)	inside rSNPs	diseases
14	nsv541071	chr11:65142779-65429352	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	984 gene(s)	inside rSNPs	diseases
15	nsv897719	chr11:65157094-65335705	Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	949 gene(s)	inside rSNPs	diseases
16	nsv541072	chr11:65171202-65313799	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	946 gene(s)	inside rSNPs	diseases
17	nsv541073	chr11:65171202-65331136	Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	949 gene(s)	inside rSNPs	diseases
18	nsv541074	chr11:65171202-65368787	Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	961 gene(s)	inside rSNPs	diseases
19	nsv541075	chr11:65210592-65331136	Genic enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	620 gene(s)	inside rSNPs	diseases
20	nsv541076	chr11:65210592-65397058	Flanking Active TSS Genic enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	645 gene(s)	inside rSNPs	diseases
21	nsv897720	chr11:65213434-65445950	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	665 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65223200-65244000	Weak transcription	Fetal Kidney	kidney
2	chr11:65234000-65244000	Weak transcription	Fetal Brain Female	brain
3	chr11:65239400-65243800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr11:65239400-65243800	Weak transcription	Liver	Liver
5	chr11:65239400-65243800	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr11:65239400-65244000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr11:65239600-65243800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr11:65239600-65243800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr11:65239600-65243800	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr11:65239600-65243800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr11:65239600-65243800	Weak transcription	Brain Substantia Nigra	brain
12	chr11:65239600-65243800	Weak transcription	Colonic Mucosa	Colon
13	chr11:65239600-65243800	Weak transcription	Colon Smooth Muscle	Colon
14	chr11:65239600-65243800	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr11:65239600-65243800	Weak transcription	Esophagus	oesophagus
16	chr11:65239600-65243800	Weak transcription	Pancreas	Pancrea
17	chr11:65239600-65243800	Weak transcription	Right Ventricle	heart
18	chr11:65239600-65243800	Weak transcription	Small Intestine	intestine
19	chr11:65239600-65244000	Weak transcription	Brain Angular Gyrus	brain
20	chr11:65239600-65244400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr11:65239800-65243600	Weak transcription	Spleen	Spleen
22	chr11:65239800-65243800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr11:65239800-65243800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr11:65239800-65243800	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr11:65239800-65243800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr11:65239800-65243800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr11:65239800-65243800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr11:65239800-65243800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr11:65239800-65243800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr11:65239800-65243800	Weak transcription	Brain Anterior Caudate	brain
31	chr11:65239800-65243800	Weak transcription	Brain Cingulate Gyrus	brain
32	chr11:65239800-65243800	Weak transcription	Brain Germinal Matrix	brain
33	chr11:65239800-65243800	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr11:65239800-65243800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr11:65239800-65243800	Weak transcription	Fetal Lung	lung
36	chr11:65239800-65243800	Weak transcription	Fetal Muscle Leg	muscle
37	chr11:65239800-65243800	Weak transcription	Fetal Stomach	stomach
38	chr11:65239800-65243800	Weak transcription	Left Ventricle	heart
39	chr11:65239800-65244000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr11:65239800-65244000	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr11:65239800-65244000	Weak transcription	Gastric	stomach
42	chr11:65239800-65244000	Weak transcription	Right Atrium	heart
43	chr11:65240000-65243600	Weak transcription	HepG2	liver
44	chr11:65240000-65243800	Weak transcription	Primary T cells from cord blood	blood
45	chr11:65240000-65243800	Weak transcription	Thymus	Thymus
46	chr11:65240000-65243800	Weak transcription	HSMMtube	muscle
47	chr11:65240000-65243800	Weak transcription	NHDF-Ad	bronchial
48	chr11:65240000-65244000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr11:65240000-65244000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr11:65240200-65243600	Weak transcription	Adipose Nuclei	Adipose

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