Variant report

Variant	rs73069916
Chromosome Location	chr4:1213554-1213555
allele	C/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	STAT3	chr4:1212524-1213616	GM12878	blood:	n/a	n/a
2	CHD1	chr4:1212174-1213573	GM12878	blood:	n/a	n/a
3	STAT5A	chr4:1212508-1213685	GM12878	blood:	n/a	n/a
4	ELK1	chr4:1212830-1213611	GM12878	blood:	n/a	n/a
5	RCOR1	chr4:1212275-1213586	GM12878	blood:	n/a	n/a
6	RUNX3	chr4:1212511-1213716	GM12878	blood:	n/a	n/a
7	MTA3	chr4:1212051-1213801	GM12878	blood:	n/a	n/a
8	CEBPB	chr4:1213314-1213686	IMR90	lung:	n/a	n/a
9	FOXM1	chr4:1212105-1213583	GM12878	blood:	n/a	n/a
10	SMC3	chr4:1212379-1213601	GM12878	blood:	n/a	n/a
11	POLR2A	chr4:1213069-1214107	HepG2	liver:	n/a	n/a
12	EP300	chr4:1212324-1213593	GM12878	blood:	n/a	n/a
13	CHD2	chr4:1212473-1213587	GM12878	blood:	n/a	n/a
14	NFIC	chr4:1212075-1213615	GM12878	blood:	n/a	n/a
15	FOXM1	chr4:1212437-1213650	GM12878	blood:	n/a	n/a
16	TBL1XR1	chr4:1212321-1213595	GM12878	blood:	n/a	n/a
17	RUNX3	chr4:1212396-1213658	GM12878	blood:	n/a	n/a
18	CREB1	chr4:1212355-1213589	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:1213244..1216173-chr4:1340937..1342611,2	MCF-7	breast:
2	chr4:1213077..1214690-chr4:1242056..1244324,2	K562	blood:

Variant related genes	Relation type
CTBP1	TF binding region
ENSG00000163945	Chromatin interaction
ENSG00000196810	Chromatin interaction
ENSG00000159692	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs58848442	0.92[AFR][1000 genomes]
rs59780026	0.96[AFR][1000 genomes]
rs73069935	0.96[AFR][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	nsv1009619	chr4:901897-1215657	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	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
5	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
6	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
7	nsv878329	chr4:1147407-1254930	Genic enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
8	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
9	nsv593276	chr4:1159680-1227469	Flanking Active TSS Genic enhancers Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
10	nsv461151	chr4:1159680-1236840	Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
11	nsv593277	chr4:1159680-1236840	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
12	nsv878331	chr4:1159680-1254930	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
13	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
14	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
15	nsv461153	chr4:1174861-1254930	Genic enhancers Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
16	nsv593279	chr4:1174861-1254930	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
17	nsv461154	chr4:1179213-1254930	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
18	nsv593280	chr4:1179213-1254930	Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
19	nsv878332	chr4:1179213-1254930	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
20	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
21	nsv878333	chr4:1193832-1254930	Enhancers Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
22	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
23	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
24	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
25	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

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:1195200-1214600	Weak transcription	A549	lung
2	chr4:1202800-1218000	Weak transcription	Fetal Brain Male	brain
3	chr4:1203200-1217800	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr4:1203800-1223000	Strong transcription	Osteobl	bone
5	chr4:1204000-1218000	Weak transcription	K562	blood
6	chr4:1204400-1227200	Strong transcription	Fetal Intestine Small	intestine
7	chr4:1204400-1235800	Strong transcription	HUES6 Cell Line	embryonic stem cell
8	chr4:1204600-1220400	Strong transcription	Liver	Liver
9	chr4:1204600-1236200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr4:1204800-1213800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr4:1204800-1226400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr4:1204800-1237000	Weak transcription	Psoas Muscle	Psoas
13	chr4:1205000-1226200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr4:1205200-1218000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr4:1205400-1226800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr4:1205800-1228200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr4:1206000-1226800	Strong transcription	Fetal Brain Female	brain
18	chr4:1206400-1226800	Strong transcription	Brain Germinal Matrix	brain
19	chr4:1206600-1227600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
20	chr4:1207200-1213600	Strong transcription	Cortex derived primary cultured neurospheres	brain
21	chr4:1207600-1218200	Weak transcription	Hela-S3	cervix
22	chr4:1208800-1228000	Strong transcription	Muscle Satellite Cultured Cells	--
23	chr4:1209000-1213600	Genic enhancers	Fetal Thymus	thymus
24	chr4:1209000-1218000	Weak transcription	Stomach Mucosa	stomach
25	chr4:1209400-1215000	Weak transcription	Ovary	ovary
26	chr4:1209800-1215400	Weak transcription	HSMMtube	muscle
27	chr4:1209800-1218000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr4:1210400-1213600	Genic enhancers	Placenta	Placenta
29	chr4:1210400-1213800	Enhancers	Primary hematopoietic stem cells	blood
30	chr4:1210400-1214200	Weak transcription	NH-A	brain
31	chr4:1210400-1214400	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr4:1210400-1214600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr4:1210400-1214600	Weak transcription	Rectal Smooth Muscle	rectum
34	chr4:1210400-1215000	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr4:1210600-1225200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr4:1210800-1214200	Enhancers	Primary monocytes fromperipheralblood	blood
37	chr4:1210800-1214400	Weak transcription	Brain Cingulate Gyrus	brain
38	chr4:1210800-1215400	Weak transcription	Brain Substantia Nigra	brain
39	chr4:1210800-1217800	Weak transcription	Fetal Heart	heart
40	chr4:1210800-1218000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr4:1211000-1217800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr4:1211200-1213600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
43	chr4:1211200-1213800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
44	chr4:1211200-1213800	Enhancers	Primary T helper cells fromperipheralblood	blood
45	chr4:1211200-1214000	Enhancers	Primary T cells fromperipheralblood	blood
46	chr4:1211200-1214400	Strong transcription	Fetal Stomach	stomach
47	chr4:1211200-1214600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
48	chr4:1211200-1215000	Weak transcription	Colonic Mucosa	Colon
49	chr4:1211200-1215000	Strong transcription	Fetal Intestine Large	intestine
50	chr4:1211200-1217800	Strong transcription	Skeletal Muscle Male	skeletal muscle

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