Variant report

Variant	rs3824212
Chromosome Location	chr8:11142918-11142919
allele	C/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	chr8:11141569-11142929	H1-neurons	neurons:	n/a	n/a
2	ZNF263	chr8:11141653-11142938	HEK293-T-REx	kidney:	n/a	chr8:11141737-11141746
3	MAZ	chr8:11141568-11143268	IMR90	lung:	n/a	n/a
4	RFX5	chr8:11141659-11142985	Hela-S3	cervix:	n/a	n/a
5	MXI1	chr8:11141703-11142964	GM12878	blood:	n/a	n/a
6	GABPA	chr8:11141324-11142925	A549	lung:	n/a	n/a
7	GABPA	chr8:11141442-11143024	SK-N-SH	brain:	n/a	n/a
8	MXI1	chr8:11141037-11143524	SK-N-SH	brain:	n/a	n/a
9	POLR2A	chr8:11141289-11142983	GM12891	blood:	n/a	n/a
10	POLR2A	chr8:11142783-11143190	MCF10A-Er-Src	breast:	n/a	n/a
11	REST	chr8:11141356-11143053	H1-neurons	neurons:	n/a	chr8:11141394-11141407
12	CTCF	chr8:11141604-11143057	A549	lung:	n/a	n/a
13	MYC	chr8:11141670-11143069	K562	blood:	n/a	n/a
14	HCFC1	chr8:11141250-11142950	Hela-S3	cervix:	n/a	n/a
15	MAX	chr8:11141496-11142960	ECC-1	luminal epithelium:	n/a	n/a
16	TEAD4	chr8:11141685-11142934	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:11142870..11145744-chr8:11152405..11154351,2	K562	blood:
2	chr8:11141582..11144222-chr8:11248890..11251574,2	K562	blood:
3	chr8:11141452..11143588-chr8:11203845..11206287,2	MCF-7	breast:
4	chr8:11141122..11144782-chr8:11147545..11153235,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000249316	TF binding region
ENSG00000199368	Chromatin interaction
ENSG00000154316	Chromatin interaction
ENSG00000104643	Chromatin interaction
ENSG00000255020	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10091637	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10108740	0.92[ASN][1000 genomes]
rs11782742	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12680792	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1369368	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1435279	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1529856	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1529858	0.82[AMR][1000 genomes]
rs1545073	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2016285	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2117616	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2245937	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2256016	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2272594	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2409754	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2409755	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2572420	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2572426	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2572428	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2736258	0.89[EUR][1000 genomes]
rs2736385	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2736387	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2736388	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2736390	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3808507	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3808515	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3808516	0.92[ASN][1000 genomes]
rs4515509	0.89[EUR][1000 genomes]
rs4841517	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4841518	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4841519	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7813424	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11141000-11143200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr8:11141000-11143200	Active TSS	NHLF	lung
3	chr8:11141000-11143400	Active TSS	HUES48 Cell Line	embryonic stem cell
4	chr8:11141000-11143400	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr8:11141000-11143400	Active TSS	iPS-15b Cell Line	embryonic stem cell
6	chr8:11141000-11143400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr8:11141000-11143400	Active TSS	Psoas Muscle	Psoas
8	chr8:11141000-11143600	Active TSS	HUES64 Cell Line	embryonic stem cell
9	chr8:11141200-11143000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
10	chr8:11141200-11143000	Active TSS	Brain Anterior Caudate	brain
11	chr8:11141200-11143000	Active TSS	Fetal Intestine Large	intestine
12	chr8:11141200-11143000	Active TSS	Fetal Intestine Small	intestine
13	chr8:11141200-11143200	Flanking Active TSS	Primary hematopoietic stem cells	blood
14	chr8:11141200-11143200	Active TSS	Brain Angular Gyrus	brain
15	chr8:11141200-11143200	Active TSS	A549	lung
16	chr8:11141200-11143200	Active TSS	NHDF-Ad	bronchial
17	chr8:11141200-11143400	Active TSS	ES-I3 Cell Line	embryonic stem cell
18	chr8:11141200-11143400	Active TSS	H9 Cell Line	embryonic stem cell
19	chr8:11141200-11143400	Active TSS	iPS-20b Cell Line	embryonic stem cell
20	chr8:11141200-11143400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
21	chr8:11141200-11143400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr8:11141200-11143400	Active TSS	Pancreatic Islets	Pancreatic Islet
23	chr8:11141200-11143600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr8:11141200-11143600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr8:11141200-11143600	Active TSS	Right Atrium	heart
26	chr8:11141400-11143000	Active TSS	Gastric	stomach
27	chr8:11141400-11143000	Active TSS	Placenta Amnion	Placenta Amnion
28	chr8:11141400-11143200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr8:11141400-11143200	Active TSS	Aorta	Aorta
30	chr8:11141400-11143200	Active TSS	K562	blood
31	chr8:11141400-11143400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr8:11141400-11143400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr8:11141400-11143600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr8:11141600-11143000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr8:11141600-11143000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr8:11141600-11143000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
37	chr8:11141600-11143000	Active TSS	Primary T helper cells PMA-I stimulated	--
38	chr8:11141600-11143000	Active TSS	Esophagus	oesophagus
39	chr8:11141600-11143000	Active TSS	Lung	lung
40	chr8:11141600-11143000	Active TSS	Sigmoid Colon	Sigmoid Colon
41	chr8:11141600-11143000	Bivalent/Poised TSS	HepG2	liver
42	chr8:11141600-11143200	Active TSS	Breast Myoepithelial Primary Cells	Breast
43	chr8:11141600-11143200	Active TSS	Duodenum Smooth Muscle	Duodenum
44	chr8:11141600-11143200	Active TSS	Ovary	ovary
45	chr8:11141600-11143200	Active TSS	Right Ventricle	heart
46	chr8:11141600-11143200	Active TSS	NHEK	skin
47	chr8:11141600-11143400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr8:11141600-11143400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr8:11141600-11143400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr8:11141600-11143400	Active TSS	Colon Smooth Muscle	Colon

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