Variant report

Variant	rs7948086
Chromosome Location	chr11:63749696-63749697
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:63746729-63750197	K562	blood:	n/a	n/a
2	FOS	chr11:63749628-63749888	HUVEC	blood vessel:	n/a	n/a
3	MAX	chr11:63749622-63750623	NB4	blood:	n/a	n/a
4	MTA3	chr11:63749565-63749999	GM12878	blood:	n/a	n/a
5	RUNX3	chr11:63749595-63750140	GM12878	blood:	n/a	n/a
6	RUNX3	chr11:63749614-63749919	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
OTUB1	TF binding region

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1499641	1.00[AMR][1000 genomes]
rs2133545	1.00[AMR][1000 genomes]
rs2133546	1.00[AFR][1000 genomes]
rs320106	1.00[AMR][1000 genomes]
rs320107	0.90[AFR][1000 genomes]
rs320122	1.00[AFR][1000 genomes]
rs320125	0.83[AFR][1000 genomes]
rs320130	0.83[AFR][1000 genomes]
rs320132	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs320146	0.91[AFR][1000 genomes]
rs320152	0.91[AFR][1000 genomes]
rs56892076	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59337858	1.00[AMR][1000 genomes]
rs60588765	0.83[AFR][1000 genomes]
rs60996420	1.00[AMR][1000 genomes]
rs7106110	1.00[AFR][1000 genomes]
rs73492282	1.00[AMR][1000 genomes]
rs73494137	1.00[AMR][1000 genomes]
rs73494164	1.00[AFR][1000 genomes]
rs73494180	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73494188	0.91[AFR][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	nsv1051171	chr11:62987064-63835715	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
2	nsv468590	chr11:63639881-63783352	Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv555181	chr11:63639881-63783352	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	nsv897629	chr11:63664882-63866959	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv897630	chr11:63664882-63924446	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
6	nsv897631	chr11:63664882-64129722	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	254 gene(s)	inside rSNPs	diseases
7	nsv897639	chr11:63691049-63844683	Bivalent Enhancer Active TSS Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Weak transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
8	esv1849906	chr11:63719273-63880383	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
9	nsv1042075	chr11:63732454-63813164	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS 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 target site	31 gene(s)	inside rSNPs	diseases
10	esv29993	chr11:63738642-63864211	Flanking Active TSS Genic enhancers Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
11	nsv897640	chr11:63744152-63835611	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
12	nsv897641	chr11:63744152-63844683	Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
13	nsv897642	chr11:63744152-63866959	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
14	esv1802079	chr11:63746066-64151373	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	247 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63743000-63753000	Weak transcription	Aorta	Aorta
2	chr11:63744000-63753000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr11:63744000-63753000	Weak transcription	Fetal Kidney	kidney
4	chr11:63744000-63753000	Weak transcription	Small Intestine	intestine
5	chr11:63744200-63749800	Weak transcription	Primary T cells from cord blood	blood
6	chr11:63744200-63749800	Weak transcription	NHDF-Ad	bronchial
7	chr11:63744200-63753000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr11:63744200-63753000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr11:63744400-63749800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr11:63744400-63749800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr11:63744400-63750400	Strong transcription	Fetal Intestine Small	intestine
12	chr11:63744400-63752000	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr11:63744400-63753000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr11:63744400-63753000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr11:63744400-63753000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr11:63744400-63753000	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr11:63744400-63753000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr11:63744400-63753000	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr11:63744400-63753000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr11:63744400-63753000	Weak transcription	Brain Substantia Nigra	brain
21	chr11:63744400-63753000	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr11:63744400-63753000	Weak transcription	Fetal Brain Male	brain
23	chr11:63744400-63753000	Weak transcription	Fetal Intestine Large	intestine
24	chr11:63744400-63753000	Weak transcription	Fetal Lung	lung
25	chr11:63744400-63753000	Weak transcription	Psoas Muscle	Psoas
26	chr11:63744400-63753000	Weak transcription	HSMMtube	muscle
27	chr11:63744400-63753000	Weak transcription	HUVEC	blood vessel
28	chr11:63744400-63753000	Weak transcription	Osteobl	bone
29	chr11:63744400-63753400	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr11:63744600-63753000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr11:63744800-63749800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr11:63745000-63753000	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr11:63745200-63753000	Weak transcription	K562	blood
34	chr11:63746200-63753200	Weak transcription	Ovary	ovary
35	chr11:63746400-63753000	Weak transcription	Brain Germinal Matrix	brain
36	chr11:63746600-63749800	Weak transcription	Brain Hippocampus Middle	brain
37	chr11:63746600-63753000	Weak transcription	Colonic Mucosa	Colon
38	chr11:63746800-63752800	Weak transcription	HMEC	breast
39	chr11:63746800-63753000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr11:63746800-63753000	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr11:63746800-63753000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr11:63746800-63753000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr11:63746800-63753000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr11:63746800-63753000	Weak transcription	Liver	Liver
45	chr11:63746800-63753000	Weak transcription	Brain Anterior Caudate	brain
46	chr11:63746800-63753000	Weak transcription	Gastric	stomach
47	chr11:63746800-63753000	Weak transcription	Lung	lung
48	chr11:63746800-63753000	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr11:63746800-63753000	Weak transcription	Right Atrium	heart
50	chr11:63746800-63753000	Weak transcription	Stomach Mucosa	stomach

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