Variant report

Variant	rs11571523
Chromosome Location	chr1:212784158-212784159
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:36)
CpG islands
(count:0)
Chromatin interactive
region (count:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:36 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:212778466-212788906	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr1:212783616-212784277	H1-hESC	embryonic stem cell:	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	MAZ	chr1:212780603-212785387	IMR90	lung:	n/a	chr1:212781008-212781017 chr1:212781961-212781971 chr1:212781900-212781909 chr1:212781860-212781870 chr1:212782384-212782394 chr1:212782770-212782779 chr1:212782716-212782726 chr1:212781677-212781687 chr1:212781009-212781016
6	POLR2A	chr1:212780146-212787893	GM12878	blood:	n/a	n/a
7	POLR2A	chr1:212784063-212785234	K562	blood:	n/a	n/a
8	SIN3A	chr1:212783821-212784188	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr1:212779324-212788938	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr1:212783996-212784252	GM12878	blood:	n/a	n/a
11	POLR2A	chr1:212780327-212784859	GM12892	blood:	n/a	n/a
12	CHD1	chr1:212779286-212788865	IMR90	lung:	n/a	chr1:212783477-212783487 chr1:212782811-212782821
13	POLR2A	chr1:212779999-212787934	GM12878	blood:	n/a	n/a
14	POLR2A	chr1:212780020-212789160	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr1:212784054-212784251	GM12878	blood:	n/a	n/a
16	POLR2A	chr1:212783571-212785066	Hela-S3	cervix:	n/a	n/a
17	POLR2A	chr1:212780006-212784580	GM12878	blood:	n/a	n/a
18	POLR2A	chr1:212779987-212787925	Hela-S3	cervix:	n/a	n/a
19	POLR2A	chr1:212780258-212787842	HUVEC	blood vessel:	n/a	n/a
20	POLR2A	chr1:212781361-212784304	K562	blood:	n/a	n/a
21	HCFC1	chr1:212778936-212785331	Hela-S3	cervix:	n/a	n/a
22	POLR2A	chr1:212781346-212789662	HepG2	liver:	n/a	n/a
23	POLR2A	chr1:212780144-212798001	IMR90	lung:	n/a	n/a
24	CTCF	chr1:212782443-212784224	A549	lung:	n/a	chr1:212782832-212782848 chr1:212782830-212782843
25	POLR2A	chr1:212781260-212785310	HCT-116	colon:	n/a	n/a
26	POLR2A	chr1:212783908-212785107	GM12892	blood:	n/a	n/a
27	POLR2A	chr1:212783529-212785027	H1-hESC	embryonic stem cell:	n/a	n/a
28	POLR2A	chr1:212780050-212784542	GM12878	blood:	n/a	n/a
29	MAFK	chr1:212784147-212785071	Hela-S3	cervix:	n/a	chr1:212784527-212784544
30	POLR2A	chr1:212783968-212784301	H1-hESC	embryonic stem cell:	n/a	n/a
31	HEY1	chr1:212783542-212784583	K562	blood:	n/a	n/a
32	POLR2A	chr1:212783808-212784465	Hela-S3	cervix:	n/a	n/a
33	POLR2A	chr1:212783591-212784999	GM12892	blood:	n/a	n/a
34	POLR2A	chr1:212781301-212786675	K562	blood:	n/a	n/a
35	POLR2A	chr1:212782514-212798502	A549	lung:	n/a	n/a
36	POLR2A	chr1:212780123-212784325	Hela-S3	cervix:	n/a	n/a

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:212782489..212784510-chr1:213188950..213190726,2	K562	blood:
2	chr1:212783105..212785430-chr1:212837699..212841392,3	K562	blood:
3	chr1:212781960..212786594-chr1:212837699..212841392,5	K562	blood:
4	chr1:212779176..212786217-chr1:213030148..213034937,8	K562	blood:
5	chr1:212780213..212784804-chr1:212794528..212800673,7	MCF-7	breast:
6	chr1:206722322..206724885-chr1:212783565..212785335,2	K562	blood:
7	chr1:212663057..212665371-chr1:212783064..212784989,2	MCF-7	breast:
8	chr1:212729491..212744666-chr1:212778733..212791648,68	K562	blood:
9	chr1:212782866..212786640-chr1:213033437..213035689,3	K562	blood:
10	chr1:212757622..212760525-chr1:212782938..212786517,3	K562	blood:
11	chr1:212712241..212714137-chr1:212784111..212786006,2	K562	blood:
12	chr1:212783925..212785480-chr1:213147675..213150119,2	K562	blood:
13	chr1:212783045..212785290-chr1:213295764..213298045,2	K562	blood:
14	chr1:212779956..212785175-chr1:212870276..212874748,7	K562	blood:
15	chr1:212729172..212744062-chr1:212776412..212791648,77	K562	blood:
16	chr1:212670285..212672313-chr1:212782929..212785774,2	K562	blood:
17	chr1:212782999..212784672-chr19:13264387..13266805,2	K562	blood:
18	chr1:212779632..212786722-chr1:212965265..212968763,9	K562	blood:
19	chr1:212779632..212786722-chr1:212963640..212968604,10	K562	blood:
20	chr1:212641004..212643308-chr1:212781641..212784619,3	K562	blood:
21	chr1:212756865..212759817-chr1:212782439..212784349,4	K562	blood:
22	chr1:212781135..212784585-chr1:212817878..212824204,9	K562	blood:

No data

Variant related genes	Relation type
ATF3	TF binding region
ENSG00000235862	Chromatin interaction
ENSG00000123685	Chromatin interaction
ENSG00000174606	Chromatin interaction
ENSG00000260805	Chromatin interaction
ENSG00000203705	Chromatin interaction
ENSG00000224535	Chromatin interaction
ENSG00000198468	Chromatin interaction
ENSG00000162771	Chromatin interaction
ENSG00000162769	Chromatin interaction
ENSG00000162772	Chromatin interaction
ENSG00000117697	Chromatin interaction
ENSG00000267598	Chromatin interaction
ENSG00000226036	Chromatin interaction
ENSG00000237980	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10465692	1.00[AMR][1000 genomes]
rs11571525	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11571531	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:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212779800-212785000	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr1:212780600-212784400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr1:212781600-212784200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr1:212782800-212784200	Flanking Active TSS	Rectal Smooth Muscle	rectum
5	chr1:212783000-212784200	Flanking Active TSS	Colon Smooth Muscle	Colon
6	chr1:212783000-212784200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
7	chr1:212783000-212784200	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
8	chr1:212783000-212784200	Flanking Bivalent TSS/Enh	NHEK	skin
9	chr1:212783200-212784200	Bivalent Enhancer	Fetal Thymus	thymus
10	chr1:212783200-212784200	Flanking Active TSS	Hela-S3	cervix
11	chr1:212783200-212784400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr1:212783200-212785000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr1:212783200-212785200	Flanking Active TSS	GM12878-XiMat	blood
14	chr1:212783200-212785800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr1:212783400-212784200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr1:212783400-212784200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
17	chr1:212783400-212784200	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
18	chr1:212783400-212784200	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
19	chr1:212783400-212784200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
20	chr1:212783400-212784200	Flanking Active TSS	HepG2	liver
21	chr1:212783400-212784400	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr1:212783400-212784400	Flanking Active TSS	Brain Hippocampus Middle	brain
23	chr1:212783400-212784400	Bivalent/Poised TSS	Fetal Stomach	stomach
24	chr1:212783400-212784400	Enhancers	Pancreas	Pancrea
25	chr1:212783400-212784400	Bivalent/Poised TSS	NH-A	brain
26	chr1:212783400-212785200	Enhancers	Small Intestine	intestine
27	chr1:212783400-212790400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr1:212783400-212791600	Weak transcription	Ovary	ovary
29	chr1:212783600-212784200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr1:212783600-212784200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
31	chr1:212783600-212784200	Enhancers	Fetal Intestine Large	intestine
32	chr1:212783600-212784200	Enhancers	Gastric	stomach
33	chr1:212783600-212784200	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
34	chr1:212783600-212784200	Enhancers	Stomach Mucosa	stomach
35	chr1:212783600-212784400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr1:212783600-212784400	Active TSS	Colonic Mucosa	Colon
37	chr1:212783600-212784600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr1:212783600-212784600	Flanking Active TSS	Brain Anterior Caudate	brain
39	chr1:212783600-212784800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr1:212783600-212785000	Enhancers	K562	blood
41	chr1:212783600-212788200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr1:212783600-212792000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr1:212783800-212784200	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
44	chr1:212783800-212784200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
45	chr1:212783800-212784200	Bivalent/Poised TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr1:212783800-212784200	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
47	chr1:212783800-212784200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr1:212783800-212784200	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
49	chr1:212783800-212784200	Enhancers	Duodenum Mucosa	Duodenum
50	chr1:212783800-212784200	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle

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