Variant report

Variant	rs73069994
Chromosome Location	chr4:1290923-1290924
allele	C/T
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	chr4:1290893-1291068	GM12878	blood:	n/a	n/a
2	POLR2A	chr4:1290513-1292103	K562	blood:	n/a	n/a
3	POLR2A	chr4:1290789-1292001	K562	blood:	n/a	n/a
4	POLR2A	chr4:1290890-1291590	K562	blood:	n/a	n/a
5	POLR2A	chr4:1290440-1291012	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:1236833..1250005-chr4:1276188..1292579,54	MCF-7	breast:
2	chr4:1289122..1291329-chr4:1338444..1340407,2	MCF-7	breast:
3	chr4:1241391..1244976-chr4:1289369..1292052,3	MCF-7	breast:

Variant related genes	Relation type
MAEA	TF binding region
ENSG00000196810	Chromatin interaction
ENSG00000159692	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10013662	1.00[EUR][1000 genomes]
rs11931513	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11932230	0.81[AMR][1000 genomes]
rs11932895	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13115935	1.00[EUR][1000 genomes]
rs1383658	1.00[EUR][1000 genomes]
rs1383659	1.00[EUR][1000 genomes]
rs1481168	1.00[EUR][1000 genomes]
rs1680075	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1680082	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17164618	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1732105	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2127911	1.00[EUR][1000 genomes]
rs34082974	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4336168	1.00[EUR][1000 genomes]
rs4465987	1.00[EUR][1000 genomes]
rs4974567	1.00[EUR][1000 genomes]
rs4974580	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4974581	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4974634	1.00[EUR][1000 genomes]
rs4974636	1.00[EUR][1000 genomes]
rs4974641	1.00[EUR][1000 genomes]
rs57461362	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59318613	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59669372	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60410862	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6818213	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6834402	1.00[EUR][1000 genomes]
rs6835204	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73069991	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73071910	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73071925	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73073722	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73073725	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73073727	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73073729	1.00[EUR][1000 genomes]
rs73796061	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7660109	1.00[EUR][1000 genomes]
rs7691582	1.00[EUR][1000 genomes]
rs922697	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv822425	chr4:540105-1413799	Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	108 gene(s)	inside rSNPs	diseases
2	nsv530490	chr4:614355-1399150	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
3	esv3339080	chr4:970630-1546223	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
4	nsv829835	chr4:1097586-1304239	Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
5	nsv878328	chr4:1141573-1990425	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS 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 miRNA target site	121 gene(s)	inside rSNPs	diseases
6	nsv878330	chr4:1147407-1523930	Strong transcription Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers 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	71 gene(s)	inside rSNPs	diseases
7	nsv461152	chr4:1159680-1415698	Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
8	nsv593278	chr4:1159680-1415698	Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
9	nsv997971	chr4:1191256-1518521	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
10	nsv461155	chr4:1203265-1352685	Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
11	nsv593281	chr4:1203265-1352685	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
12	nsv1002097	chr4:1212573-1320086	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
13	nsv536986	chr4:1212573-1320086	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
14	nsv593298	chr4:1244267-1342521	Flanking Active TSS Strong transcription Genic enhancers Enhancers Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
15	nsv461156	chr4:1254930-1312394	Strong transcription Flanking Active TSS Genic enhancers Weak transcription Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
16	nsv593299	chr4:1254930-1312394	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
17	nsv593300	chr4:1272664-1312394	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
18	nsv878338	chr4:1277826-1358449	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
19	nsv878339	chr4:1277826-1363886	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
20	nsv878340	chr4:1277826-1386570	Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
21	nsv878341	chr4:1277826-1391400	Active TSS ZNF genes & repeats Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
22	nsv1002635	chr4:1282603-1402761	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
23	esv3384011	chr4:1287052-1291350	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
24	esv3394864	chr4:1288602-1291225	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
25	esv14797	chr4:1289224-1292044	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:1285200-1293800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr4:1285200-1303400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr4:1285400-1291200	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr4:1285400-1291200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr4:1285400-1293400	Weak transcription	A549	lung
6	chr4:1285400-1294200	Weak transcription	HSMMtube	muscle
7	chr4:1285400-1294200	Weak transcription	HUVEC	blood vessel
8	chr4:1285400-1302400	Weak transcription	Fetal Kidney	kidney
9	chr4:1285600-1291400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr4:1285800-1296000	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr4:1285800-1302200	Weak transcription	NHDF-Ad	bronchial
12	chr4:1286000-1295200	Strong transcription	Thymus	Thymus
13	chr4:1286200-1291400	Weak transcription	Hela-S3	cervix
14	chr4:1286200-1293400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr4:1286200-1299200	Strong transcription	Fetal Intestine Small	intestine
16	chr4:1286200-1302400	Weak transcription	Fetal Brain Male	brain
17	chr4:1286400-1299000	Weak transcription	Small Intestine	intestine
18	chr4:1287400-1291800	Genic enhancers	Gastric	stomach
19	chr4:1287400-1292000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr4:1287400-1294600	Genic enhancers	Spleen	Spleen
21	chr4:1287600-1295200	Genic enhancers	Primary T cells fromperipheralblood	blood
22	chr4:1287800-1293400	Weak transcription	HSMM	muscle
23	chr4:1288000-1291000	Weak transcription	HepG2	liver
24	chr4:1288000-1291200	Weak transcription	NH-A	brain
25	chr4:1288400-1291600	Weak transcription	Primary B cells from cord blood	blood
26	chr4:1288400-1292200	Genic enhancers	Pancreas	Pancrea
27	chr4:1289000-1291200	Strong transcription	HUES6 Cell Line	embryonic stem cell
28	chr4:1289000-1296000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr4:1289000-1298800	Weak transcription	Stomach Mucosa	stomach
30	chr4:1289200-1291600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr4:1289200-1292800	Weak transcription	GM12878-XiMat	blood
32	chr4:1289400-1291000	Weak transcription	Brain Cingulate Gyrus	brain
33	chr4:1289400-1291600	Strong transcription	Lung	lung
34	chr4:1289400-1295200	Strong transcription	Sigmoid Colon	Sigmoid Colon
35	chr4:1289400-1298800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr4:1289400-1299000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr4:1289400-1299400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr4:1289400-1299400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr4:1289400-1299800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr4:1289400-1302200	Weak transcription	Fetal Heart	heart
41	chr4:1289600-1294800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr4:1289600-1295400	Strong transcription	Duodenum Mucosa	Duodenum
43	chr4:1289800-1292400	Strong transcription	Fetal Muscle Trunk	muscle
44	chr4:1290000-1291800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr4:1290000-1292800	Strong transcription	Fetal Muscle Leg	muscle
46	chr4:1290000-1293000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr4:1290000-1294000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
48	chr4:1290000-1294800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr4:1290000-1295000	Strong transcription	Colonic Mucosa	Colon
50	chr4:1290000-1295200	Strong transcription	Rectal Mucosa Donor 29	rectum

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