Variant report

Variant	rs11571535
Chromosome Location	chr1:212786268-212786269
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:28)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:28 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:212785516-212786379	GM12892	blood:	n/a	n/a
2	POLR2A	chr1:212778466-212788906	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr1:212786151-212786268	K562	blood:	n/a	n/a
4	POLR2A	chr1:212778349-212787926	MCF10A-Er-Src	breast:	n/a	n/a
5	POLR2A	chr1:212780956-212787804	HepG2	liver:	n/a	n/a
6	POLR2A	chr1:212780146-212787893	GM12878	blood:	n/a	n/a
7	POLR2A	chr1:212779324-212788938	Hela-S3	cervix:	n/a	n/a
8	CHD1	chr1:212779286-212788865	IMR90	lung:	n/a	chr1:212783477-212783487 chr1:212782811-212782821
9	POLR2A	chr1:212779999-212787934	GM12878	blood:	n/a	n/a
10	E2F4	chr1:212786140-212786397	MCF10A-Er-Src	breast:	n/a	n/a
11	POLR2A	chr1:212785316-212786578	HCT-116	colon:	n/a	n/a
12	POLR2A	chr1:212780020-212789160	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr1:212779987-212787925	Hela-S3	cervix:	n/a	n/a
14	POLR2A	chr1:212785305-212786703	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr1:212785532-212786380	GM12892	blood:	n/a	n/a
16	POLR2A	chr1:212785391-212786350	PFSK-1	brain:	n/a	n/a
17	POLR2A	chr1:212785209-212787245	K562	blood:	n/a	n/a
18	POLR2A	chr1:212780258-212787842	HUVEC	blood vessel:	n/a	n/a
19	POLR2A	chr1:212781346-212789662	HepG2	liver:	n/a	n/a
20	POLR2A	chr1:212785102-212786687	Hela-S3	cervix:	n/a	n/a
21	POLR2A	chr1:212785635-212786627	Hela-S3	cervix:	n/a	n/a
22	POLR2A	chr1:212780144-212798001	IMR90	lung:	n/a	n/a
23	POLR2A	chr1:212785330-212786571	GM12892	blood:	n/a	n/a
24	POLR2A	chr1:212785355-212786396	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr1:212786047-212786651	GM12891	blood:	n/a	n/a
26	POLR2A	chr1:212785490-212786288	GM12891	blood:	n/a	n/a
27	POLR2A	chr1:212781301-212786675	K562	blood:	n/a	n/a
28	POLR2A	chr1:212782514-212798502	A549	lung:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:212785851..212789357-chr1:212837777..212840991,5	K562	blood:
2	chr1:212781960..212786594-chr1:212837699..212841392,5	K562	blood:
3	chr1:212780951..212783971-chr1:212784548..212788701,9	MCF-7	breast:
4	chr1:212729491..212744666-chr1:212778733..212791648,68	K562	blood:
5	chr1:212782866..212786640-chr1:213033437..213035689,3	K562	blood:
6	chr1:212757622..212760525-chr1:212782938..212786517,3	K562	blood:
7	chr1:212729172..212744062-chr1:212776412..212791648,77	K562	blood:
8	chr1:212779632..212786722-chr1:212965265..212968763,9	K562	blood:
9	chr1:212779632..212786722-chr1:212963640..212968604,10	K562	blood:

No data

Variant related genes	Relation type
ATF3	TF binding region
ENSG00000260805	Chromatin interaction
ENSG00000162772	Chromatin interaction
ENSG00000117697	Chromatin interaction
ENSG00000203705	Chromatin interaction
ENSG00000237980	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs11571524	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs11571533	1.00[AMR][1000 genomes]
rs11571558	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3001261	1.00[AMR][1000 genomes]
rs58103452	1.00[AMR][1000 genomes]
rs58411510	1.00[AMR][1000 genomes]
rs58475088	1.00[AMR][1000 genomes]
rs60028272	1.00[AMR][1000 genomes]
rs61531628	1.00[AMR][1000 genomes]
rs73075890	1.00[AMR][1000 genomes]
rs73075893	1.00[AMR][1000 genomes]
rs73075901	1.00[AMR][1000 genomes]
rs73077743	1.00[AMR][1000 genomes]
rs73077745	1.00[AMR][1000 genomes]
rs73077750	1.00[AMR][1000 genomes]
rs73077752	1.00[AMR][1000 genomes]
rs73077765	1.00[AMR][1000 genomes]
rs73077787	1.00[AMR][1000 genomes]
rs73077796	1.00[AMR][1000 genomes]
rs73077801	1.00[AMR][1000 genomes]
rs73079812	1.00[AMR][1000 genomes]
rs73079819	1.00[AMR][1000 genomes]
rs73079839	1.00[AMR][1000 genomes]
rs73079842	1.00[AMR][1000 genomes]
rs73079854	1.00[AMR][1000 genomes]
rs73079874	1.00[AMR][1000 genomes]
rs73079900	1.00[AMR][1000 genomes]
rs73081820	1.00[AMR][1000 genomes]
rs73081821	1.00[AMR][1000 genomes]
rs73081838	1.00[AMR][1000 genomes]
rs73081848	1.00[AMR][1000 genomes]
rs73081859	1.00[AMR][1000 genomes]
rs73081865	1.00[AMR][1000 genomes]
rs73081874	1.00[AMR][1000 genomes]
rs73081896	1.00[AMR][1000 genomes]
rs73083716	1.00[AMR][1000 genomes]
rs73083720	1.00[AMR][1000 genomes]
rs73083723	1.00[AMR][1000 genomes]
rs73088535	1.00[AMR][1000 genomes]
rs73088538	1.00[AMR][1000 genomes]
rs73088542	1.00[AMR][1000 genomes]
rs73088546	1.00[AMR][1000 genomes]
rs73090557	1.00[AMR][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	nsv549139	chr1:212332294-212876902	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS 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	114 gene(s)	inside rSNPs	diseases
2	nsv1013110	chr1:212555764-212948092	Flanking Active TSS Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
3	nsv535287	chr1:212555764-212948092	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
4	esv2757770	chr1:212648143-212843103	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	77 gene(s)	inside rSNPs	diseases
5	esv2758996	chr1:212648143-212843103	Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	77 gene(s)	inside rSNPs	diseases
6	nsv428588	chr1:212705588-212862875	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	78 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212783400-212790400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:212783400-212791600	Weak transcription	Ovary	ovary
3	chr1:212783600-212788200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr1:212783600-212792000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr1:212784000-212787000	Weak transcription	Spleen	Spleen
6	chr1:212784000-212787800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr1:212784000-212792000	Weak transcription	Esophagus	oesophagus
8	chr1:212784000-212794200	Weak transcription	HUVEC	blood vessel
9	chr1:212784200-212787200	Enhancers	H9 Cell Line	embryonic stem cell
10	chr1:212784200-212787200	Weak transcription	Gastric	stomach
11	chr1:212784200-212787400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr1:212784200-212788400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr1:212784200-212788600	Weak transcription	Duodenum Mucosa	Duodenum
14	chr1:212784200-212788600	Weak transcription	Fetal Intestine Large	intestine
15	chr1:212784200-212789200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr1:212784200-212790400	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr1:212784200-212796800	Weak transcription	Stomach Mucosa	stomach
18	chr1:212784400-212786400	Enhancers	Aorta	Aorta
19	chr1:212784400-212786600	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
20	chr1:212784400-212786800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr1:212784400-212787000	Weak transcription	Fetal Intestine Small	intestine
22	chr1:212784400-212787800	Enhancers	Brain Hippocampus Middle	brain
23	chr1:212784400-212788000	Weak transcription	Fetal Stomach	stomach
24	chr1:212784400-212788400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr1:212784400-212790200	Weak transcription	Dnd41	blood
26	chr1:212784400-212790400	Weak transcription	Colonic Mucosa	Colon
27	chr1:212784600-212787000	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr1:212784600-212788200	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr1:212784600-212788400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr1:212784600-212788400	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr1:212784600-212788400	Weak transcription	Colon Smooth Muscle	Colon
32	chr1:212784600-212788400	Weak transcription	Fetal Muscle Trunk	muscle
33	chr1:212784600-212788400	Weak transcription	NHEK	skin
34	chr1:212784600-212788800	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr1:212784800-212787000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr1:212784800-212787400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr1:212784800-212787600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr1:212784800-212788400	Weak transcription	Rectal Smooth Muscle	rectum
39	chr1:212784800-212790400	Weak transcription	Brain Angular Gyrus	brain
40	chr1:212784800-212794800	Weak transcription	NH-A	brain
41	chr1:212785000-212786400	Weak transcription	Brain Substantia Nigra	brain
42	chr1:212785000-212787000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr1:212785000-212787000	Weak transcription	Lung	lung
44	chr1:212785000-212787000	Weak transcription	Pancreas	Pancrea
45	chr1:212785000-212787000	Weak transcription	Stomach Smooth Muscle	stomach
46	chr1:212785000-212787200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr1:212785000-212787600	Enhancers	H1 Cell Line	embryonic stem cell
48	chr1:212785000-212787600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr1:212785000-212787600	Enhancers	Placenta	Placenta
50	chr1:212785000-212787600	Weak transcription	Right Ventricle	heart

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