Variant report

Variant	rs11571531
Chromosome Location	chr1:212785572-212785573
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:11)
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	chr1:212778349-212787926	MCF10A-Er-Src	breast:	n/a	n/a
4	POLR2A	chr1:212780956-212787804	HepG2	liver:	n/a	n/a
5	POLR2A	chr1:212780146-212787893	GM12878	blood:	n/a	n/a
6	POLR2A	chr1:212779324-212788938	Hela-S3	cervix:	n/a	n/a
7	CHD1	chr1:212779286-212788865	IMR90	lung:	n/a	chr1:212783477-212783487 chr1:212782811-212782821
8	POLR2A	chr1:212779999-212787934	GM12878	blood:	n/a	n/a
9	POLR2A	chr1:212785316-212786578	HCT-116	colon:	n/a	n/a
10	POLR2A	chr1:212780020-212789160	H1-hESC	embryonic stem cell:	n/a	n/a
11	JUND	chr1:212785538-212786085	H1-hESC	embryonic stem cell:	n/a	chr1:212785990-212785998 chr1:212785988-212786000
12	POLR2A	chr1:212779987-212787925	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr1:212785305-212786703	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr1:212785532-212786380	GM12892	blood:	n/a	n/a
15	POLR2A	chr1:212785391-212786350	PFSK-1	brain:	n/a	n/a
16	POLR2A	chr1:212785209-212787245	K562	blood:	n/a	n/a
17	POLR2A	chr1:212780258-212787842	HUVEC	blood vessel:	n/a	n/a
18	POLR2A	chr1:212781346-212789662	HepG2	liver:	n/a	n/a
19	POLR2A	chr1:212785102-212786687	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chr1:212785557-212785921	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr1:212780144-212798001	IMR90	lung:	n/a	n/a
22	POLR2A	chr1:212785330-212786571	GM12892	blood:	n/a	n/a
23	POLR2A	chr1:212785355-212786396	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chr1:212785482-212785923	K562	blood:	n/a	n/a
25	TEAD4	chr1:212785380-212785856	H1-hESC	embryonic stem cell:	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:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:212781960..212786594-chr1:212837699..212841392,5	K562	blood:
2	chr1:212779176..212786217-chr1:213030148..213034937,8	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	chr1:212712241..212714137-chr1:212784111..212786006,2	K562	blood:
8	chr1:212729172..212744062-chr1:212776412..212791648,77	K562	blood:
9	chr1:212670285..212672313-chr1:212782929..212785774,2	K562	blood:
10	chr1:212779632..212786722-chr1:212965265..212968763,9	K562	blood:
11	chr1:212779632..212786722-chr1:212963640..212968604,10	K562	blood:

No data

Variant related genes	Relation type
ATF3	TF binding region
ENSG00000260805	Chromatin interaction
ENSG00000117697	Chromatin interaction
ENSG00000162769	Chromatin interaction
ENSG00000198468	Chromatin interaction
ENSG00000162772	Chromatin interaction
ENSG00000203705	Chromatin interaction
ENSG00000237980	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10465692	1.00[AMR][1000 genomes]
rs11571519	1.00[LWK][hapmap]
rs11571521	1.00[LWK][hapmap];1.00[MKK][hapmap]
rs11571523	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11571525	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55727989	1.00[AMR][1000 genomes]
rs56056407	1.00[AMR][1000 genomes]
rs56059979	1.00[AMR][1000 genomes]
rs56909493	1.00[AMR][1000 genomes]
rs57517430	1.00[AMR][1000 genomes]
rs58964221	1.00[AMR][1000 genomes]
rs60404556	1.00[AMR][1000 genomes]
rs61460239	1.00[AMR][1000 genomes]
rs74138137	1.00[AMR][1000 genomes]
rs74138138	1.00[AMR][1000 genomes]
rs74138139	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:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212783200-212785800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr1:212783400-212790400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:212783400-212791600	Weak transcription	Ovary	ovary
4	chr1:212783600-212788200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr1:212783600-212792000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr1:212784000-212787000	Weak transcription	Spleen	Spleen
7	chr1:212784000-212787800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr1:212784000-212792000	Weak transcription	Esophagus	oesophagus
9	chr1:212784000-212794200	Weak transcription	HUVEC	blood vessel
10	chr1:212784200-212785800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
11	chr1:212784200-212786200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr1:212784200-212787200	Enhancers	H9 Cell Line	embryonic stem cell
13	chr1:212784200-212787200	Weak transcription	Gastric	stomach
14	chr1:212784200-212787400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr1:212784200-212788400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr1:212784200-212788600	Weak transcription	Duodenum Mucosa	Duodenum
17	chr1:212784200-212788600	Weak transcription	Fetal Intestine Large	intestine
18	chr1:212784200-212789200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr1:212784200-212790400	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr1:212784200-212796800	Weak transcription	Stomach Mucosa	stomach
21	chr1:212784400-212786400	Enhancers	Aorta	Aorta
22	chr1:212784400-212786600	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
23	chr1:212784400-212786800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr1:212784400-212787000	Weak transcription	Fetal Intestine Small	intestine
25	chr1:212784400-212787800	Enhancers	Brain Hippocampus Middle	brain
26	chr1:212784400-212788000	Weak transcription	Fetal Stomach	stomach
27	chr1:212784400-212788400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr1:212784400-212790200	Weak transcription	Dnd41	blood
29	chr1:212784400-212790400	Weak transcription	Colonic Mucosa	Colon
30	chr1:212784600-212785800	Enhancers	NHLF	lung
31	chr1:212784600-212787000	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr1:212784600-212788200	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr1:212784600-212788400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr1:212784600-212788400	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr1:212784600-212788400	Weak transcription	Colon Smooth Muscle	Colon
36	chr1:212784600-212788400	Weak transcription	Fetal Muscle Trunk	muscle
37	chr1:212784600-212788400	Weak transcription	NHEK	skin
38	chr1:212784600-212788800	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr1:212784800-212785800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
40	chr1:212784800-212785800	Weak transcription	Brain Cingulate Gyrus	brain
41	chr1:212784800-212787000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr1:212784800-212787400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr1:212784800-212787600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr1:212784800-212788400	Weak transcription	Rectal Smooth Muscle	rectum
45	chr1:212784800-212790400	Weak transcription	Brain Angular Gyrus	brain
46	chr1:212784800-212794800	Weak transcription	NH-A	brain
47	chr1:212785000-212785800	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr1:212785000-212786000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
49	chr1:212785000-212786000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr1:212785000-212786000	Enhancers	Brain Anterior Caudate	brain

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