Variant report

Variant	rs7833051
Chromosome Location	chr8:11141330-11141331
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	chr8:11141315-11141511	GM12878	blood:	n/a	n/a
2	CTCF	chr8:11141200-11141350	SAEC	small airway:	n/a	n/a
3	GABPA	chr8:11141098-11142824	MCF-7	breast:	n/a	n/a
4	POLR2A	chr8:11141198-11142914	GM12878	blood:	n/a	n/a
5	ELF1	chr8:11141271-11142768	GM12878	blood:	n/a	chr8:11142216-11142228 chr8:11141904-11141913 chr8:11141916-11141927 chr8:11141495-11141506 chr8:11141917-11141926
6	ELF1	chr8:11141320-11142811	HCT-116	colon:	n/a	chr8:11142216-11142228 chr8:11141904-11141913 chr8:11141916-11141927 chr8:11141495-11141506 chr8:11141917-11141926
7	TCF12	chr8:11141298-11142785	A549	lung:	n/a	n/a
8	GABPA	chr8:11141324-11142925	A549	lung:	n/a	n/a
9	MXI1	chr8:11141037-11143524	SK-N-SH	brain:	n/a	n/a
10	MXI1	chr8:11141288-11142902	IMR90	lung:	n/a	n/a
11	POLR2A	chr8:11141289-11142983	GM12891	blood:	n/a	n/a
12	POLR2A	chr8:11141297-11142692	GM18526	blood:	n/a	n/a
13	HCFC1	chr8:11141250-11142950	Hela-S3	cervix:	n/a	n/a
14	POLR2A	chr8:11141275-11142848	GM19193	blood:	n/a	n/a
15	MAX	chr8:11141284-11142775	HepG2	liver:	n/a	n/a
16	GABPA	chr8:11141253-11142650	HL-60	blood:	n/a	n/a
17	POLR2A	chr8:11141236-11142870	GM12878	blood:	n/a	n/a
18	SETDB1	chr8:11141308-11142631	K562	blood:	n/a	n/a
19	GABPA	chr8:11141320-11142542	A549	lung:	n/a	n/a
20	POLR2A	chr8:11141243-11142818	H1-hESC	embryonic stem cell:	n/a	n/a
21	MTA3	chr8:11141253-11142880	GM12878	blood:	n/a	n/a
22	POLR2A	chr8:11141255-11142866	GM19099	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:11057391..11059241-chr8:11140154..11142116,2	MCF-7	breast:
2	chr8:11141122..11144782-chr8:11147545..11153235,7	MCF-7	breast:

Variant related genes	Relation type
MTMR9	TF binding region
ENSG00000249316	TF binding region
ENSG00000171044	Chromatin interaction
ENSG00000104643	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12115113	1.00[AMR][1000 genomes]
rs12115121	1.00[AMR][1000 genomes]
rs2117617	1.00[AMR][1000 genomes]
rs4483111	1.00[AMR][1000 genomes]
rs57332847	1.00[AMR][1000 genomes]
rs58758812	1.00[AMR][1000 genomes]
rs58797482	1.00[AMR][1000 genomes]
rs59310177	1.00[AMR][1000 genomes]
rs60959401	1.00[AMR][1000 genomes]
rs61752023	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6985292	1.00[AMR][1000 genomes]
rs73663108	1.00[AMR][1000 genomes]
rs73665042	1.00[AMR][1000 genomes]
rs73665043	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73665044	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7816547	1.00[AMR][1000 genomes]
rs7833217	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035072	chr8:10819444-11480692	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv539473	chr8:10819444-11480692	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv529399	chr8:10970091-11805960	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	nsv831233	chr8:11046854-11234384	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv1022525	chr8:11066191-11309356	Enhancers Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv539474	chr8:11066191-11309356	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv1033312	chr8:11126800-11252170	Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11141000-11141400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
2	chr8:11141000-11141400	Active TSS	Brain Substantia Nigra	brain
3	chr8:11141000-11141400	Active TSS	Duodenum Mucosa	Duodenum
4	chr8:11141000-11141600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
5	chr8:11141000-11141600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
6	chr8:11141000-11141600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr8:11141000-11141600	Active TSS	Fetal Brain Male	brain
8	chr8:11141000-11141600	Flanking Active TSS	Fetal Lung	lung
9	chr8:11141000-11141800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
10	chr8:11141000-11141800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr8:11141000-11141800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr8:11141000-11141800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
13	chr8:11141000-11142000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr8:11141000-11142600	Active TSS	Rectal Mucosa Donor 29	rectum
15	chr8:11141000-11143200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr8:11141000-11143200	Active TSS	NHLF	lung
17	chr8:11141000-11143400	Active TSS	HUES48 Cell Line	embryonic stem cell
18	chr8:11141000-11143400	Active TSS	HUES6 Cell Line	embryonic stem cell
19	chr8:11141000-11143400	Active TSS	iPS-15b Cell Line	embryonic stem cell
20	chr8:11141000-11143400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr8:11141000-11143400	Active TSS	Psoas Muscle	Psoas
22	chr8:11141000-11143600	Active TSS	HUES64 Cell Line	embryonic stem cell
23	chr8:11141200-11141400	Active TSS	H1 Cell Line	embryonic stem cell
24	chr8:11141200-11141400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr8:11141200-11141400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr8:11141200-11141400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr8:11141200-11141400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
28	chr8:11141200-11141400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
29	chr8:11141200-11141400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr8:11141200-11141400	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
31	chr8:11141200-11141400	Active TSS	Brain Cingulate Gyrus	brain
32	chr8:11141200-11141400	Flanking Active TSS	Brain Hippocampus Middle	brain
33	chr8:11141200-11141400	Flanking Active TSS	Fetal Brain Female	brain
34	chr8:11141200-11141400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
35	chr8:11141200-11141400	Enhancers	Fetal Muscle Leg	muscle
36	chr8:11141200-11141400	Enhancers	Placenta	Placenta
37	chr8:11141200-11141400	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
38	chr8:11141200-11141400	Enhancers	Gastric	stomach
39	chr8:11141200-11141400	Enhancers	Lung	lung
40	chr8:11141200-11141400	Enhancers	Small Intestine	intestine
41	chr8:11141200-11141400	Enhancers	Stomach Mucosa	stomach
42	chr8:11141200-11141400	Bivalent/Poised TSS	Thymus	Thymus
43	chr8:11141200-11141400	Active TSS	HSMMtube	muscle
44	chr8:11141200-11141400	Active TSS	Osteobl	bone
45	chr8:11141200-11141600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr8:11141200-11141600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
47	chr8:11141200-11141600	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr8:11141200-11141600	Flanking Active TSS	Primary T cells from cord blood	blood
49	chr8:11141200-11141600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
50	chr8:11141200-11141600	Flanking Active TSS	Muscle Satellite Cultured Cells	--

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