Variant report

Variant	rs10160753
Chromosome Location	chr11:3894712-3894713
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:3892574..3897220-chr11:3897647..3902052,8	K562	blood:
2	chr11:3892544..3895447-chr11:3927385..3929992,2	K562	blood:
3	chr11:3875349..3877164-chr11:3894334..3897310,2	MCF-7	breast:
4	chr11:3886946..3888803-chr11:3894440..3896951,3	K562	blood:

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

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10160254	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10160331	0.99[ASN][1000 genomes]
rs10160415	0.99[ASN][1000 genomes]
rs10160703	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10767679	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10767680	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10767681	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10767684	0.99[ASN][1000 genomes]
rs10767685	0.93[ASN][1000 genomes]
rs10835217	0.88[ASN][1000 genomes]
rs10835226	0.99[ASN][1000 genomes]
rs10835231	0.99[ASN][1000 genomes]
rs10835232	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10835236	0.99[ASN][1000 genomes]
rs10835238	0.99[ASN][1000 genomes]
rs10835239	0.99[ASN][1000 genomes]
rs10835245	0.99[ASN][1000 genomes]
rs10835246	0.99[ASN][1000 genomes]
rs10835247	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10835248	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10835249	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10835250	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10835252	0.99[ASN][1000 genomes]
rs10835256	0.98[ASN][1000 genomes]
rs10835261	0.96[ASN][1000 genomes]
rs10835262	0.96[ASN][1000 genomes]
rs11030122	0.89[ASN][1000 genomes]
rs11030176	0.99[ASN][1000 genomes]
rs12275981	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1869085	0.99[ASN][1000 genomes]
rs1964492	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4414209	0.88[ASN][1000 genomes]
rs4910584	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7111609	0.99[ASN][1000 genomes]
rs7118295	0.98[ASN][1000 genomes]
rs7120336	0.99[ASN][1000 genomes]
rs7126870	0.80[ASN][1000 genomes]
rs7131437	0.99[ASN][1000 genomes]
rs7131469	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 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	nsv1046325	chr11:3856201-3895148	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
9	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
10	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
11	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
12	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
13	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:74 , 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	chr11:3889400-3894800	Weak transcription	Ovary	ovary
11	chr11:3889400-3894800	Weak transcription	Right Ventricle	heart
12	chr11:3889400-3896400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr11:3889400-3898200	Weak transcription	Stomach Smooth Muscle	stomach
14	chr11:3889400-3898600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr11:3889400-3898600	Weak transcription	Pancreas	Pancrea
16	chr11:3889400-3898600	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr11:3889400-3898800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr11:3889400-3898800	Weak transcription	Gastric	stomach
19	chr11:3889400-3899200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr11:3889400-3900000	Weak transcription	Right Atrium	heart
21	chr11:3889400-3901200	Weak transcription	Lung	lung
22	chr11:3889400-3901400	Weak transcription	Fetal Stomach	stomach
23	chr11:3889600-3894800	Weak transcription	Liver	Liver
24	chr11:3889600-3897200	Weak transcription	Colon Smooth Muscle	Colon
25	chr11:3889600-3897200	Weak transcription	Rectal Smooth Muscle	rectum
26	chr11:3889600-3897600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr11:3889600-3898600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr11:3889600-3898600	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr11:3889800-3894800	Weak transcription	Adipose Nuclei	Adipose
30	chr11:3889800-3894800	Weak transcription	Fetal Muscle Leg	muscle
31	chr11:3889800-3897600	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr11:3889800-3898600	Weak transcription	NHEK	skin
33	chr11:3889800-3899200	Weak transcription	Small Intestine	intestine
34	chr11:3889800-3901200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr11:3890000-3898600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr11:3890200-3898200	Weak transcription	Fetal Intestine Small	intestine
37	chr11:3890200-3898200	Weak transcription	Stomach Mucosa	stomach
38	chr11:3891200-3895600	Enhancers	Primary T cells fromperipheralblood	blood
39	chr11:3891400-3915000	Enhancers	Primary B cells from peripheral blood	blood
40	chr11:3892600-3898400	Weak transcription	Duodenum Mucosa	Duodenum
41	chr11:3892600-3899200	Weak transcription	Spleen	Spleen
42	chr11:3892600-3901400	Weak transcription	Left Ventricle	heart
43	chr11:3892800-3897600	Weak transcription	Fetal Thymus	thymus
44	chr11:3893000-3895200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr11:3893000-3895200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr11:3893000-3898600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr11:3893200-3894800	Weak transcription	Primary B cells from cord blood	blood
48	chr11:3893200-3894800	Weak transcription	Primary T cells from cord blood	blood
49	chr11:3893200-3894800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr11:3893200-3895000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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