Variant report

Variant	rs7116483
Chromosome Location	chr11:3898275-3898276
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:3856186..3858258-chr11:3896154..3898858,2	K562	blood:
2	chr11:3892574..3897220-chr11:3897647..3902052,8	K562	blood:
3	chr11:3898017..3898634-chr3:12542224..12542813,2	Hela-S3	cervix:
4	chr11:3875402..3877640-chr11:3896655..3899286,2	K562	blood:
5	chr11:3885887..3888606-chr11:3895839..3898545,2	MCF-7	breast:
6	chr11:3886506..3888876-chr11:3896609..3899008,2	K562	blood:

Variant related genes	Relation type
ENSG00000229368	Chromatin interaction
ENSG00000263421	Chromatin interaction
ENSG00000167323	Chromatin interaction
ENSG00000228661	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11030210	0.85[ASN][1000 genomes]
rs1823681	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4243966	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4910586	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7104206	0.85[EUR][1000 genomes]
rs7118328	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs896531	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049560	chr11:3678259-3980746	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv540907	chr11:3678259-3980746	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv1052744	chr11:3739162-4017601	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv1047025	chr11:3750969-4017601	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' 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	28 gene(s)	inside rSNPs	diseases
5	esv1803195	chr11:3806490-3924156	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	nsv1046065	chr11:3808818-4049150	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
7	nsv540909	chr11:3808818-4049150	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
8	nsv1039059	chr11:3856201-3909415	Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
9	nsv540910	chr11:3856201-3909415	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
10	nsv1051580	chr11:3856201-3924216	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
11	nsv1043265	chr11:3856201-3926407	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
12	nsv869701	chr11:3879297-3973762	Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:3886800-3899200	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr11:3887200-3901400	Weak transcription	Brain Angular Gyrus	brain
3	chr11:3887400-3898600	Weak transcription	Brain Cingulate Gyrus	brain
4	chr11:3888600-3911200	Weak transcription	Dnd41	blood
5	chr11:3889000-3898600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr11:3889000-3898600	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr11:3889000-3899000	Weak transcription	Esophagus	oesophagus
8	chr11:3889000-3902400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
9	chr11:3889200-3913400	Weak transcription	Aorta	Aorta
10	chr11:3889400-3898600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr11:3889400-3898600	Weak transcription	Pancreas	Pancrea
12	chr11:3889400-3898600	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr11:3889400-3898800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr11:3889400-3898800	Weak transcription	Gastric	stomach
15	chr11:3889400-3899200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr11:3889400-3900000	Weak transcription	Right Atrium	heart
17	chr11:3889400-3901200	Weak transcription	Lung	lung
18	chr11:3889400-3901400	Weak transcription	Fetal Stomach	stomach
19	chr11:3889600-3898600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr11:3889600-3898600	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr11:3889800-3898600	Weak transcription	NHEK	skin
22	chr11:3889800-3899200	Weak transcription	Small Intestine	intestine
23	chr11:3889800-3901200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr11:3890000-3898600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr11:3891400-3915000	Enhancers	Primary B cells from peripheral blood	blood
26	chr11:3892600-3898400	Weak transcription	Duodenum Mucosa	Duodenum
27	chr11:3892600-3899200	Weak transcription	Spleen	Spleen
28	chr11:3892600-3901400	Weak transcription	Left Ventricle	heart
29	chr11:3893000-3898600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr11:3893200-3898600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr11:3894200-3902400	Enhancers	Primary T helper cells PMA-I stimulated	--
32	chr11:3894800-3902200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
33	chr11:3894800-3902400	Enhancers	Primary T helper cells fromperipheralblood	blood
34	chr11:3895000-3901800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
35	chr11:3895000-3902200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
36	chr11:3895200-3898800	Weak transcription	Adipose Nuclei	Adipose
37	chr11:3895200-3900800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr11:3895200-3902000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr11:3895200-3902400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
40	chr11:3895800-3898800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr11:3895800-3902200	Enhancers	Primary T helper naive cells from peripheral blood	blood
42	chr11:3896000-3901200	Weak transcription	Right Ventricle	heart
43	chr11:3896600-3899200	Enhancers	K562	blood
44	chr11:3897000-3902400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
45	chr11:3897000-3903400	Enhancers	Primary B cells from cord blood	blood
46	chr11:3897200-3898600	Enhancers	HepG2	liver
47	chr11:3897200-3902200	Enhancers	Colon Smooth Muscle	Colon
48	chr11:3897200-3902200	Enhancers	Skeletal Muscle Female	skeletal muscle
49	chr11:3897200-3903200	Enhancers	Primary hematopoietic stem cells short term culture	blood
50	chr11:3897400-3898600	Weak transcription	HUES6 Cell Line	embryonic stem cell

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