Variant report

Variant	rs1822310
Chromosome Location	chr1:146555735-146555736
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:190)
CpG islands
(count:0)
Chromatin interactive
region (count:57)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:190 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RFX5	chr1:146555410-146556510	K562	blood:	n/a	n/a
2	BCLAF1	chr1:146555663-146556579	GM12878	blood:	n/a	chr1:146556550-146556558
3	TCF7L2	chr1:146555541-146557042	Hela-S3	cervix:	n/a	n/a
4	BCLAF1	chr1:146555399-146556726	K562	blood:	n/a	chr1:146556550-146556558
5	POLR2A	chr1:146555537-146556803	HepG2	liver:	n/a	n/a
6	POLR2A	chr1:146555434-146557191	K562	blood:	n/a	n/a
7	POLR2A	chr1:146555467-146557086	K562	blood:	n/a	n/a
8	POLR2A	chr1:146555353-146556785	IMR90	lung:	n/a	n/a
9	PML	chr1:146555558-146556838	GM12878	blood:	n/a	n/a
10	POLR2A	chr1:146555735-146556660	HL-60	blood:	n/a	n/a
11	POLR2A	chr1:146555477-146556685	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr1:146555481-146556767	GM18951	blood:	n/a	n/a
13	POLR2A	chr1:146555520-146556849	GM12878	blood:	n/a	n/a
14	RDBP	chr1:146555360-146556389	K562	blood:	n/a	n/a
15	POU2F2	chr1:146555625-146556669	GM12878	blood:	n/a	n/a
16	BACH1	chr1:146555556-146556717	H1-hESC	embryonic stem cell:	n/a	n/a
17	BCL11A	chr1:146555603-146556714	GM12878	blood:	n/a	chr1:146556550-146556558
18	RUNX3	chr1:146555637-146556480	GM12878	blood:	n/a	n/a
19	POLR2A	chr1:146555564-146556843	Hela-S3	cervix:	n/a	n/a
20	TAL1	chr1:146555099-146556455	K562	blood:	n/a	n/a
21	POLR2A	chr1:146555656-146556852	Gliobla	brain:	n/a	n/a
22	SIN3AK20	chr1:146555553-146556809	PANC-1	pancreas:	n/a	n/a
23	KAP1	chr1:146555610-146557013	HEK293	kidney:	n/a	n/a
24	POLR2A	chr1:146555522-146556974	GM12892	blood:	n/a	n/a
25	ZNF274	chr1:146555035-146556323	K562	blood:	n/a	n/a
26	POU2F2	chr1:146555467-146556817	GM12878	blood:	n/a	n/a
27	NFIC	chr1:146555715-146556491	GM12878	blood:	n/a	n/a
28	POLR2A	chr1:146555427-146556832	PANC-1	pancreas:	n/a	n/a
29	NFATC1	chr1:146555663-146556742	GM12878	blood:	n/a	chr1:146556137-146556151
30	POLR2A	chr1:146555463-146557078	GM18505	blood:	n/a	n/a
31	WRNIP1	chr1:146555491-146556663	GM12878	blood:	n/a	n/a
32	POLR2A	chr1:146555558-146556920	GM12878	blood:	n/a	n/a
33	POLR2A	chr1:146555407-146556964	H1-neurons	neurons:	n/a	n/a
34	POLR2A	chr1:146555486-146556763	GM18526	blood:	n/a	n/a
35	POLR2A	chr1:146555605-146556653	HUVEC	blood vessel:	n/a	n/a
36	POLR2A	chr1:146555307-146556790	GM12878	blood:	n/a	n/a
37	GATA2	chr1:146555428-146556561	K562	blood:	n/a	n/a
38	POLR2A	chr1:146555655-146557083	K562	blood:	n/a	n/a
39	POLR2A	chr1:146555462-146556774	GM19099	blood:	n/a	n/a
40	POLR2A	chr1:146555397-146556747	GM12891	blood:	n/a	n/a
41	HEY1	chr1:146555551-146557164	K562	blood:	n/a	chr1:146556495-146556510
42	HEY1	chr1:146555085-146557466	K562	blood:	n/a	chr1:146556495-146556510
43	NR2F2	chr1:146555633-146556725	K562	blood:	n/a	n/a
44	POLR2A	chr1:146555648-146557076	MCF10A-Er-Src	breast:	n/a	n/a
45	SIN3AK20	chr1:146555702-146556692	SK-N-SH	brain:	n/a	n/a
46	PML	chr1:146555570-146557176	K562	blood:	n/a	n/a
47	CREB1	chr1:146555582-146556909	K562	blood:	n/a	n/a
48	POLR2A	chr1:146555679-146556823	ProgFib	skin:	n/a	n/a
49	POLR2A	chr1:146555621-146556623	PANC-1	pancreas:	n/a	n/a
50	ZNF384	chr1:146555732-146556488	GM12878	blood:	n/a	n/a

No data

(count:57 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr1:146555688..146556591-chr10:75012122..75012630,2	Hela-S3	cervix:
2	chr1:146555480..146557423-chr1:146582452..146585260,2	MCF-7	breast:
3	chr1:146555582..146557721-chr16:70906703..70908588,2	MCF-7	breast:
4	chr1:146555308..146557751-chr1:146572492..146574636,3	MCF-7	breast:
5	chr1:146555350..146556240-chr3:193852240..193853122,2	Hela-S3	cervix:
6	chr1:146554717..146557790-chr1:146713275..146715735,7	MCF-7	breast:
7	chr1:146555657..146558762-chr1:146628491..146630489,3	K562	blood:
8	chr1:146554322..146557448-chr1:146695605..146698369,3	K562	blood:
9	chr1:146554504..146557399-chr1:146713775..146716499,4	MCF-7	breast:
10	chr1:146553836..146557884-chr1:146641755..146644199,5	MCF-7	breast:
11	chr1:146555681..146556535-chr19:51307817..51308351,2	Hela-S3	cervix:
12	chr1:16840013..16841107-chr1:146555703..146556722,5	Hela-S3	cervix:
13	chr1:146555489..146556304-chr1:156697880..156698708,2	Hela-S3	cervix:
14	chr1:146555458..146558111-chr16:71130666..71132660,2	K562	blood:
15	chr1:146555685..146556600-chr12:46766325..46766994,2	Hela-S3	cervix:
16	chr1:146555547..146556244-chr6:58778367..58779271,2	Hela-S3	cervix:
17	chr1:146554548..146558121-chr1:149223419..149225403,4	MCF-7	breast:
18	chr1:146555707..146556728-chr1:149223383..149224524,5	Hela-S3	cervix:
19	chr1:146554384..146557759-chr1:149221710..149225398,8	K562	blood:
20	chr1:146554522..146557720-chr1:147805011..147808218,6	K562	blood:
21	chr1:146555598..146556321-chr2:111435611..111436273,2	Hela-S3	cervix:
22	chr1:146554412..146557592-chr1:149221795..149226039,8	K562	blood:
23	chr1:146555134..146556670-chr1:146623816..146625708,2	K562	blood:
24	chr1:145382519..145383544-chr1:146555684..146556729,3	Hela-S3	cervix:
25	chr1:146555650..146556332-chr11:65194563..65195527,2	Hela-S3	cervix:
26	chr1:24069225..24069939-chr1:146555641..146556281,2	Hela-S3	cervix:
27	chr1:146555629..146556415-chr5:134094109..134094676,2	Hela-S3	cervix:
28	chr1:146555569..146557322-chr1:146680607..146682552,2	K562	blood:
29	chr1:146555358..146556038-chr7:2594809..2595422,2	Hela-S3	cervix:
30	chr1:146550590..146559110-chr1:146711930..146718078,31	K562	blood:
31	chr1:146555502..146556485-chr21:35747301..35748035,3	Hela-S3	cervix:
32	chr1:146555730..146556321-chr7:158496940..158497729,2	Hela-S3	cervix:
33	chr1:146552515..146557737-chr1:146711619..146718083,31	K562	blood:
34	chr1:146554115..146557849-chr1:146637949..146646936,17	MCF-7	breast:
35	chr1:146555612..146556247-chr12:54674407..54675072,2	Hela-S3	cervix:
36	chr1:24306316..24306938-chr1:146555713..146556635,2	Hela-S3	cervix:
37	chr1:146555129..146557611-chr1:146720507..146722463,2	K562	blood:
38	chr1:146555596..146556466-chr11:74303067..74303845,2	Hela-S3	cervix:
39	chr1:144531278..144537146-chr1:146553717..146557612,11	K562	blood:
40	chr1:146554326..146556624-chr1:149762818..149765682,2	K562	blood:
41	chr1:146502664..146505503-chr1:146555291..146557477,4	MCF-7	breast:
42	chr1:146554089..146558005-chr1:146638440..146645674,16	K562	blood:
43	chr1:146554322..146556284-chr1:146695615..146697996,2	K562	blood:
44	chr1:146555481..146556330-chr15:63893299..63894290,2	Hela-S3	cervix:
45	chr1:146555646..146556462-chr17:26925996..26926691,2	Hela-S3	cervix:
46	chr1:146554821..146557331-chr17:58468506..58470510,2	MCF-7	breast:
47	chr1:146554921..146557589-chr7:94462581..94464231,2	MCF-7	breast:
48	chr1:146555582..146557565-chr1:146708158..146710932,2	K562	blood:
49	chr1:146555715..146556415-chr3:15247032..15247826,2	Hela-S3	cervix:
50	chr1:146554823..146556812-chr1:146593975..146596191,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000230832	TF binding region
ENSG00000205670	Chromatin interaction
ENSG00000131781	Chromatin interaction
ENSG00000219807	Chromatin interaction
ENSG00000143303	Chromatin interaction
ENSG00000011007	Chromatin interaction
ENSG00000201699	Chromatin interaction
ENSG00000135486	Chromatin interaction
ENSG00000169679	Chromatin interaction
ENSG00000131375	Chromatin interaction
ENSG00000167747	Chromatin interaction
ENSG00000125871	Chromatin interaction
ENSG00000207005	Chromatin interaction
ENSG00000230524	Chromatin interaction
ENSG00000273071	Chromatin interaction
ENSG00000188529	Chromatin interaction
ENSG00000089006	Chromatin interaction
ENSG00000227543	Chromatin interaction
ENSG00000206737	Chromatin interaction
ENSG00000233030	Chromatin interaction
ENSG00000146918	Chromatin interaction
ENSG00000182180	Chromatin interaction
ENSG00000076382	Chromatin interaction
ENSG00000106009	Chromatin interaction
ENSG00000141371	Chromatin interaction
ENSG00000134294	Chromatin interaction
ENSG00000201558	Chromatin interaction
ENSG00000227242	Chromatin interaction
ENSG00000077514	Chromatin interaction
ENSG00000134250	Chromatin interaction
ENSG00000206652	Chromatin interaction
ENSG00000143319	Chromatin interaction
ENSG00000170832	Chromatin interaction
ENSG00000145833	Chromatin interaction
ENSG00000225555	Chromatin interaction
ENSG00000259248	Chromatin interaction
ENSG00000131778	Chromatin interaction
ENSG00000202408	Chromatin interaction
ENSG00000227540	Chromatin interaction
ENSG00000237188	Chromatin interaction
ENSG00000223316	Chromatin interaction
ENSG00000131791	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1822306	1.00[YRI][hapmap]
rs572109	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757753	chr1:145883119-146697542	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	nsv872251	chr1:146152553-146803630	Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
3	nsv872252	chr1:146471863-147398135	Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	112 gene(s)	inside rSNPs	diseases
4	nsv999546	chr1:146507577-147356574	Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
5	nsv535123	chr1:146507577-147356574	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
6	nsv492188	chr1:146507649-147381479	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
7	nsv916754	chr1:146507711-147417736	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	113 gene(s)	inside rSNPs	diseases
8	nsv547673	chr1:146510112-147398135	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
9	nsv946298	chr1:146510432-146557539	Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	71 gene(s)	inside rSNPs	diseases
10	nsv547674	chr1:146522722-147396797	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
11	nsv998341	chr1:146531446-147384720	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
12	nsv535124	chr1:146531446-147384720	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
13	nsv1003493	chr1:146531446-147389944	Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
14	nsv998209	chr1:146543722-147384720	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
15	nsv535126	chr1:146543722-147384720	Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
16	nsv872255	chr1:146550780-146969712	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:146555000-146555800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
2	chr1:146555000-146557200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
3	chr1:146555000-146557200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
4	chr1:146555200-146555800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
5	chr1:146555200-146555800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:146555200-146555800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
7	chr1:146555200-146555800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr1:146555200-146556000	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr1:146555200-146556000	Flanking Active TSS	K562	blood
10	chr1:146555200-146556800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr1:146555200-146557200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
12	chr1:146555200-146557200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
13	chr1:146555200-146557400	Active TSS	HSMMtube	muscle
14	chr1:146555400-146555800	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
15	chr1:146555400-146555800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr1:146555400-146555800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
17	chr1:146555400-146555800	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
18	chr1:146555400-146555800	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr1:146555400-146555800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
20	chr1:146555400-146555800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr1:146555400-146555800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr1:146555400-146555800	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
23	chr1:146555400-146555800	Bivalent Enhancer	Fetal Heart	heart
24	chr1:146555400-146555800	Enhancers	Gastric	stomach
25	chr1:146555400-146555800	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
26	chr1:146555400-146555800	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
27	chr1:146555400-146555800	Bivalent Enhancer	NHLF	lung
28	chr1:146555400-146556000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
29	chr1:146555400-146556000	Flanking Bivalent TSS/Enh	Muscle Satellite Cultured Cells	--
30	chr1:146555400-146556000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr1:146555400-146556000	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
32	chr1:146555400-146556000	Enhancers	Spleen	Spleen
33	chr1:146555400-146556000	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
34	chr1:146555400-146556200	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
35	chr1:146555400-146556200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
36	chr1:146555400-146556200	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 31	rectum
37	chr1:146555400-146556600	Active TSS	NHEK	skin
38	chr1:146555400-146556800	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
39	chr1:146555400-146557000	Active TSS	Aorta	Aorta
40	chr1:146555400-146557000	Bivalent/Poised TSS	HepG2	liver
41	chr1:146555400-146557200	Active TSS	ES-I3 Cell Line	embryonic stem cell
42	chr1:146555400-146557200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
43	chr1:146555400-146557400	Bivalent/Poised TSS	A549	lung
44	chr1:146555400-146557400	Bivalent/Poised TSS	NHDF-Ad	bronchial
45	chr1:146555600-146555800	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr1:146555600-146555800	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr1:146555600-146555800	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr1:146555600-146555800	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr1:146555600-146555800	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr1:146555600-146555800	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell

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