Variant report

Variant	rs11571519
Chromosome Location	chr1:212782375-212782376
allele	A/G
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	chr1:212778466-212788906	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr1:212780095-212783407	Hela-S3	cervix:	n/a	n/a
3	ZBTB7A	chr1:212781682-212783257	K562	blood:	n/a	chr1:212782380-212782389 chr1:212782799-212782806 chr1:212781910-212781919
4	POLR2A	chr1:212781324-212782595	K562	blood:	n/a	n/a
5	E2F1	chr1:212781341-212782673	Hela-S3	cervix:	n/a	chr1:212782504-212782511 chr1:212781671-212781680 chr1:212782461-212782468 chr1:212782504-212782511 chr1:212782504-212782511 chr1:212781668-212781680 chr1:212782461-212782468 chr1:212782461-212782468 chr1:212782379-212782388
6	SMARCB1	chr1:212780081-212783360	Hela-S3	cervix:	n/a	n/a
7	PML	chr1:212781492-212782488	K562	blood:	n/a	n/a
8	POLR2A	chr1:212778349-212787926	MCF10A-Er-Src	breast:	n/a	n/a
9	MYC	chr1:212781645-212783332	NB4	blood:	n/a	chr1:212781961-212781971 chr1:212781900-212781909 chr1:212781860-212781870 chr1:212782384-212782394 chr1:212782770-212782779 chr1:212782716-212782726 chr1:212781677-212781687
10	POLR2A	chr1:212781592-212782393	A549	lung:	n/a	n/a
11	POLR2A	chr1:212781243-212783398	GM12878	blood:	n/a	n/a
12	POLR2A	chr1:212780956-212787804	HepG2	liver:	n/a	n/a
13	HEY1	chr1:212781170-212783532	K562	blood:	n/a	chr1:212782801-212782816 chr1:212782718-212782733
14	JUND	chr1:212781291-212782535	K562	blood:	n/a	chr1:212781672-212781681 chr1:212781673-212781682 chr1:212781676-212781685 chr1:212781655-212781664
15	POLR2A	chr1:212781632-212782392	HL-60	blood:	n/a	n/a
16	ATF2	chr1:212781377-212782462	H1-hESC	embryonic stem cell:	n/a	chr1:212782009-212782023
17	POLR2A	chr1:212780069-212783342	GM19193	blood:	n/a	n/a
18	TCF12	chr1:212781020-212782486	ECC-1	luminal epithelium:	n/a	n/a
19	POLR2A	chr1:212781643-212783501	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr1:212780146-212783758	GM18505	blood:	n/a	n/a
21	JUN	chr1:212781458-212782537	K562	blood:	n/a	chr1:212781672-212781681 chr1:212781673-212781682 chr1:212781676-212781685 chr1:212781655-212781664 chr1:212782077-212782090
22	SIN3A	chr1:212781574-212782380	GM12878	blood:	n/a	n/a
23	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
24	EP300	chr1:212781438-212782399	A549	lung:	n/a	n/a
25	POLR2A	chr1:212781263-212783319	K562	blood:	n/a	n/a
26	POLR2A	chr1:212780146-212787893	GM12878	blood:	n/a	n/a
27	TAF1	chr1:212781432-212782490	ECC-1	luminal epithelium:	n/a	n/a
28	POLR2A	chr1:212781698-212782642	NB4	blood:	n/a	n/a
29	CEBPB	chr1:212781559-212782414	A549	lung:	n/a	n/a
30	POU2F2	chr1:212781534-212782660	GM12878	blood:	n/a	chr1:212781656-212781668 chr1:212781671-212781683 chr1:212781916-212781928 chr1:212781673-212781685
31	TCF12	chr1:212779886-212782525	A549	lung:	n/a	n/a
32	MAX	chr1:212780813-212782410	H1-hESC	embryonic stem cell:	n/a	chr1:212781008-212781017 chr1:212781961-212781971 chr1:212781900-212781909 chr1:212781860-212781870 chr1:212782384-212782394 chr1:212781677-212781687 chr1:212781009-212781016
33	TAF1	chr1:212781922-212782386	GM12892	blood:	n/a	n/a
34	POLR2A	chr1:212781600-212782901	MCF-7	breast:	n/a	n/a
35	E2F6	chr1:212781551-212783106	K562	blood:	n/a	chr1:212782504-212782511 chr1:212781671-212781680 chr1:212782461-212782468 chr1:212782504-212782511 chr1:212782504-212782511 chr1:212781668-212781680 chr1:212782461-212782468 chr1:212782461-212782468 chr1:212782379-212782388 chr1:212782808-212782820
36	POLR2A	chr1:212781477-212782501	HUVEC	blood vessel:	n/a	n/a
37	PML	chr1:212781145-212783335	GM12878	blood:	n/a	n/a
38	CTCF	chr1:212782340-212782490	GM12864	blood:	n/a	n/a
39	POLR2A	chr1:212779324-212788938	Hela-S3	cervix:	n/a	n/a
40	POLR2A	chr1:212780060-212783327	GM12892	blood:	n/a	n/a
41	TBP	chr1:212781400-212782937	K562	blood:	n/a	n/a
42	POLR2A	chr1:212780327-212784859	GM12892	blood:	n/a	n/a
43	TRIM28	chr1:212781544-212782585	K562	blood:	n/a	n/a
44	MAX	chr1:212780055-212783475	A549	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
45	POLR2A	chr1:212781715-212782507	Gliobla	brain:	n/a	n/a
46	TBL1XR1	chr1:212781331-212782376	K562	blood:	n/a	n/a
47	CEBPD	chr1:212781558-212782384	K562	blood:	n/a	chr1:212782079-212782090
48	CHD1	chr1:212779286-212788865	IMR90	lung:	n/a	chr1:212783477-212783487 chr1:212782811-212782821
49	MXI1	chr1:212781006-212782573	Hela-S3	cervix:	n/a	n/a
50	CHD1	chr1:212782041-212783355	H1-hESC	embryonic stem cell:	n/a	chr1:212782811-212782821

No.	Distal block	Cell Line	Cell type
1	chr1:212730770..212733133-chr1:212778739..212783577,4	MCF-7	breast:
2	chr1:212781862..212782505-chr19:49956183..49957173,2	NB4	blood:
3	chr1:109642456..109643389-chr1:212781923..212782596,2	Hela-S3	cervix:
4	chr1:212781981..212782558-chr7:127291551..127292258,2	Hela-S3	cervix:
5	chr1:212588056..212590074-chr1:212779163..212783567,3	K562	blood:
6	chr1:212781960..212786594-chr1:212837699..212841392,5	K562	blood:
7	chr1:212639121..212641967-chr1:212780550..212783593,4	MCF-7	breast:
8	chr1:212779176..212786217-chr1:213030148..213034937,8	K562	blood:
9	chr1:212780213..212784804-chr1:212794528..212800673,7	MCF-7	breast:
10	chr1:212779956..212783547-chr1:212870276..212874584,4	K562	blood:
11	chr1:212650264..212651134-chr1:212782287..212782879,2	MCF-7	breast:
12	chr1:211858955..211861332-chr1:212782172..212783892,2	K562	blood:
13	chr1:212781937..212782578-chr10:104180539..104181366,2	Hela-S3	cervix:
14	chr1:212780353..212782606-chr1:212962286..212965026,4	K562	blood:
15	chr1:212782029..212782559-chr20:44562993..44563766,2	Hela-S3	cervix:
16	chr1:212729491..212744666-chr1:212778733..212791648,68	K562	blood:
17	chr1:212781858..212782405-chr7:108210038..108210702,2	Hela-S3	cervix:
18	chr1:212781817..212782448-chr16:2205029..2205627,2	Hela-S3	cervix:
19	chr1:210547375..210547892-chr1:212781759..212782426,2	Hela-S3	cervix:
20	chr1:212780968..212782915-chr1:212872894..212874871,2	MCF-7	breast:
21	chr1:212780858..212783878-chr1:212789179..212792370,4	MCF-7	breast:
22	chr1:212779956..212785175-chr1:212870276..212874748,7	K562	blood:
23	chr1:212781931..212782498-chr3:128902526..128903215,2	Hela-S3	cervix:
24	chr1:212641004..212645017-chr1:212780879..212784098,6	K562	blood:
25	chr1:172501235..172501944-chr1:212781826..212782697,2	Hela-S3	cervix:
26	chr1:212781892..212782437-chr19:54371117..54371840,2	Hela-S3	cervix:
27	chr1:212729172..212744062-chr1:212776412..212791648,77	K562	blood:
28	chr1:212586222..212588940-chr1:212781343..212783037,2	K562	blood:
29	chr1:212730682..212733368-chr1:212780704..212783808,5	MCF-7	breast:
30	chr1:212779632..212786722-chr1:212965265..212968763,9	K562	blood:
31	chr1:212604504..212608752-chr1:212780786..212783858,6	K562	blood:
32	chr1:212780951..212783989-chr1:213187661..213190726,3	K562	blood:
33	chr1:201979658..201980194-chr1:212781683..212782504,2	Hela-S3	cervix:
34	chr1:212779632..212786722-chr1:212963640..212968604,10	K562	blood:
35	chr1:212780951..212783971-chr1:212784548..212788701,9	MCF-7	breast:
36	chr1:212641004..212643308-chr1:212781641..212784619,3	K562	blood:
37	chr1:212781781..212782473-chr13:103249021..103249521,2	Hela-S3	cervix:
38	chr1:212781135..212784585-chr1:212817878..212824204,9	K562	blood:

Variant related genes	Relation type
ATF3	TF binding region
ENSG00000065600	Chromatin interaction
ENSG00000198468	Chromatin interaction
ENSG00000237980	Chromatin interaction
ENSG00000117691	Chromatin interaction
ENSG00000224535	Chromatin interaction
ENSG00000179820	Chromatin interaction
ENSG00000174606	Chromatin interaction
ENSG00000240790	Chromatin interaction
ENSG00000104872	Chromatin interaction
ENSG00000162772	Chromatin interaction
ENSG00000128590	Chromatin interaction
ENSG00000169714	Chromatin interaction
ENSG00000163435	Chromatin interaction
ENSG00000206630	Chromatin interaction
ENSG00000260805	Chromatin interaction
ENSG00000162769	Chromatin interaction
ENSG00000226036	Chromatin interaction
ENSG00000264590	Chromatin interaction
ENSG00000260260	Chromatin interaction
ENSG00000059915	Chromatin interaction
ENSG00000200972	Chromatin interaction
ENSG00000177683	Chromatin interaction
ENSG00000123685	Chromatin interaction
ENSG00000161618	Chromatin interaction
ENSG00000135241	Chromatin interaction
ENSG00000203705	Chromatin interaction
ENSG00000134900	Chromatin interaction
ENSG00000100982	Chromatin interaction
ENSG00000117697	Chromatin interaction
ENSG00000162771	Chromatin interaction
ENSG00000107872	Chromatin interaction
ENSG00000231057	Chromatin interaction
ENSG00000197157	Chromatin interaction
ENSG00000235862	Chromatin interaction
ENSG00000094975	Chromatin interaction
ENSG00000270066	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs11571521	1.00[LWK][hapmap]
rs11571531	1.00[LWK][hapmap]

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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212779600-212784000	Active TSS	Aorta	Aorta
2	chr1:212779800-212783800	Active TSS	Breast Myoepithelial Primary Cells	Breast
3	chr1:212779800-212785000	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr1:212780000-212783000	Active TSS	Placenta Amnion	Placenta Amnion
5	chr1:212780000-212783200	Active TSS	Pancreas	Pancrea
6	chr1:212780200-212783200	Active TSS	Liver	Liver
7	chr1:212780200-212783400	Active TSS	Gastric	stomach
8	chr1:212780200-212783400	Active TSS	Ovary	ovary
9	chr1:212780200-212783600	Active TSS	Brain Anterior Caudate	brain
10	chr1:212780600-212784400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr1:212780800-212783800	Active TSS	Left Ventricle	heart
12	chr1:212780800-212783800	Active TSS	Right Ventricle	heart
13	chr1:212781000-212783000	Active TSS	Brain Angular Gyrus	brain
14	chr1:212781000-212783000	Active TSS	Brain Hippocampus Middle	brain
15	chr1:212781000-212783000	Active TSS	Brain Substantia Nigra	brain
16	chr1:212781000-212783400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr1:212781000-212783400	Active TSS	Small Intestine	intestine
18	chr1:212781000-212783800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr1:212781200-212783000	Active TSS	Psoas Muscle	Psoas
20	chr1:212781200-212783000	Active TSS	Skeletal Muscle Female	skeletal muscle
21	chr1:212781200-212783200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr1:212781200-212783200	Active TSS	GM12878-XiMat	blood
23	chr1:212781200-212783400	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
24	chr1:212781200-212783800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
25	chr1:212781200-212783800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr1:212781200-212783800	Active TSS	Brain Inferior Temporal Lobe	brain
27	chr1:212781200-212783800	Active TSS	Lung	lung
28	chr1:212781400-212782400	Bivalent/Poised TSS	Brain Germinal Matrix	brain
29	chr1:212781400-212782600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr1:212781400-212782800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr1:212781400-212782800	Active TSS	Rectal Smooth Muscle	rectum
32	chr1:212781400-212783000	Active TSS	Brain Cingulate Gyrus	brain
33	chr1:212781400-212783000	Active TSS	Colon Smooth Muscle	Colon
34	chr1:212781400-212783000	Active TSS	Duodenum Mucosa	Duodenum
35	chr1:212781400-212783200	Active TSS	Stomach Mucosa	stomach
36	chr1:212781400-212783200	Bivalent/Poised TSS	Thymus	Thymus
37	chr1:212781400-212783400	Active TSS	H9 Cell Line	embryonic stem cell
38	chr1:212781400-212783400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
39	chr1:212781600-212782800	Active TSS	Primary T killer memory cells from peripheral blood	blood
40	chr1:212781600-212782800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr1:212781600-212782800	Active TSS	Rectal Mucosa Donor 31	rectum
42	chr1:212781600-212782800	Active TSS	HMEC	breast
43	chr1:212781600-212782800	Active TSS	NHEK	skin
44	chr1:212781600-212783000	Active TSS	H1 Cell Line	embryonic stem cell
45	chr1:212781600-212783000	Active TSS	HUES64 Cell Line	embryonic stem cell
46	chr1:212781600-212783000	Active TSS	iPS-15b Cell Line	embryonic stem cell
47	chr1:212781600-212783000	Active TSS	iPS-18 Cell Line	embryonic stem cell
48	chr1:212781600-212783000	Active TSS	iPS-20b Cell Line	embryonic stem cell
49	chr1:212781600-212783000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
50	chr1:212781600-212783000	Active TSS	Primary T helper naive cells from peripheral blood	blood

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