Variant report

Variant	rs58631677
Chromosome Location	chr11:85341161-85341162
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr11:85337986-85341424	SK-N-SH	brain:	n/a	n/a
2	POLR2A	chr11:85339297-85341286	K562	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:85335097..85341629-chr11:85372332..85377145,15	MCF-7	breast:
2	chr11:85339388..85341161-chr11:85467592..85470414,2	MCF-7	breast:
3	chr11:85338390..85343522-chr11:85356567..85360273,9	MCF-7	breast:
4	chr11:85337127..85343160-chr11:85357064..85364111,20	MCF-7	breast:
5	chr11:85336278..85337921-chr11:85339997..85342218,2	K562	blood:
6	chr11:85339692..85341655-chr11:85354490..85356940,3	MCF-7	breast:
7	chr11:85337740..85341959-chr11:85373645..85377756,6	MCF-7	breast:

No data

Variant related genes	Relation type
DLG2	TF binding region
ENSG00000137501	Chromatin interaction
ENSG00000137504	Chromatin interaction
ENSG00000171202	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs11234386	0.91[ASN][1000 genomes]
rs11234387	0.91[ASN][1000 genomes]
rs11234388	0.91[ASN][1000 genomes]
rs11234389	0.86[ASN][1000 genomes]
rs11234390	0.86[ASN][1000 genomes]
rs11234391	0.86[ASN][1000 genomes]
rs17148355	0.91[ASN][1000 genomes]
rs17208525	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17208602	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17208616	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17810701	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17810766	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17810802	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17810855	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2276018	0.93[ASN][1000 genomes]
rs2304342	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2374638	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs494119	0.93[ASN][1000 genomes]
rs56695336	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57431471	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59508078	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs616309	0.93[ASN][1000 genomes]
rs645798	0.93[ASN][1000 genomes]
rs72953967	0.84[ASN][1000 genomes]
rs72953982	0.87[ASN][1000 genomes]
rs72953991	0.87[ASN][1000 genomes]
rs72953995	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72955904	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72955912	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72955918	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72955922	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72955939	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72958012	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72958014	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72958027	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	nsv898047	chr11:85180409-85377707	Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	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
5	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
6	nsv898048	chr11:85206156-85404138	Flanking Active TSS Genic enhancers Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:85336200-85341400	Active TSS	HUES48 Cell Line	embryonic stem cell
2	chr11:85337800-85341200	Active TSS	Rectal Smooth Muscle	rectum
3	chr11:85338000-85341200	Active TSS	Muscle Satellite Cultured Cells	--
4	chr11:85339800-85341200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr11:85340000-85341200	Flanking Active TSS	Dnd41	blood
6	chr11:85340200-85341200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
7	chr11:85340200-85341200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr11:85340200-85341200	Enhancers	Small Intestine	intestine
9	chr11:85340200-85341200	Enhancers	Spleen	Spleen
10	chr11:85340200-85348400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr11:85340200-85351800	Weak transcription	Gastric	stomach
12	chr11:85340200-85352400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr11:85340400-85341200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr11:85340400-85341200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
15	chr11:85340400-85341200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr11:85340400-85341200	Flanking Active TSS	A549	lung
17	chr11:85340400-85341200	Flanking Active TSS	HMEC	breast
18	chr11:85340400-85341400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr11:85340400-85341400	Flanking Active TSS	Hela-S3	cervix
20	chr11:85340400-85341600	Enhancers	Primary T helper naive cells from peripheral blood	blood
21	chr11:85340400-85341800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr11:85340400-85342000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr11:85340400-85342000	Weak transcription	Placenta	Placenta
24	chr11:85340400-85345400	Weak transcription	Lung	lung
25	chr11:85340400-85349400	Weak transcription	Pancreas	Pancrea
26	chr11:85340400-85351000	Weak transcription	Esophagus	oesophagus
27	chr11:85340600-85341200	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr11:85340600-85341200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
29	chr11:85340600-85341200	Enhancers	Primary T cells from cord blood	blood
30	chr11:85340600-85341200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr11:85340600-85341200	Enhancers	Fetal Brain Female	brain
32	chr11:85340600-85341200	Enhancers	Fetal Kidney	kidney
33	chr11:85340600-85341200	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr11:85340600-85341200	Flanking Active TSS	HepG2	liver
35	chr11:85340600-85341200	Flanking Active TSS	NHDF-Ad	bronchial
36	chr11:85340600-85341400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr11:85340600-85341400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
38	chr11:85340600-85341400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
39	chr11:85340600-85341400	Enhancers	Adipose Nuclei	Adipose
40	chr11:85340600-85341400	Enhancers	Brain Angular Gyrus	brain
41	chr11:85340600-85341400	Flanking Active TSS	GM12878-XiMat	blood
42	chr11:85340600-85341600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
43	chr11:85340600-85341600	Enhancers	Colon Smooth Muscle	Colon
44	chr11:85340600-85341600	Enhancers	Skeletal Muscle Female	skeletal muscle
45	chr11:85340600-85341800	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr11:85340600-85341800	Enhancers	Brain Anterior Caudate	brain
47	chr11:85340600-85341800	Enhancers	Fetal Heart	heart
48	chr11:85340600-85341800	Weak transcription	Fetal Thymus	thymus
49	chr11:85340600-85342000	Weak transcription	Primary T cells fromperipheralblood	blood
50	chr11:85340600-85342000	Enhancers	Primary T helper cells fromperipheralblood	blood

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