Variant report

Variant	rs13435166
Chromosome Location	chr4:1171703-1171704
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	FOS	chr4:1170939-1171734	MCF10A-Er-Src	breast:	n/a	chr4:1171620-1171630 chr4:1171620-1171630 chr4:1171620-1171630 chr4:1171620-1171630
2	FOS	chr4:1171045-1171735	MCF10A-Er-Src	breast:	n/a	chr4:1171620-1171630 chr4:1171620-1171630 chr4:1171620-1171630 chr4:1171620-1171630
3	FOS	chr4:1170956-1171711	MCF10A-Er-Src	breast:	n/a	chr4:1171620-1171630 chr4:1171620-1171630 chr4:1171620-1171630 chr4:1171620-1171630
4	MYC	chr4:1170942-1171706	MCF10A-Er-Src	breast:	n/a	chr4:1171282-1171291
5	TFAP2C	chr4:1171211-1171715	Hela-S3	cervix:	n/a	chr4:1171368-1171383 chr4:1171386-1171401
6	MAX	chr4:1170863-1171726	NB4	blood:	n/a	chr4:1171282-1171291
7	MYC	chr4:1170862-1171762	NB4	blood:	n/a	chr4:1171282-1171291
8	MAX	chr4:1171326-1171736	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr4:1171112-1171711	MCF10A-Er-Src	breast:	n/a	n/a
10	MYC	chr4:1171011-1171769	MCF10A-Er-Src	breast:	n/a	chr4:1171282-1171291

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:1161675..1163555-chr4:1169840..1172430,2	MCF-7	breast:
2	chr4:1164336..1166636-chr4:1170930..1173954,3	K562	blood:

Variant related genes	Relation type
SPON2	TF binding region
ENSG00000159674	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10002248	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10002437	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10014245	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10015944	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10027895	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10029139	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11247974	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11726554	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11728360	0.82[AFR][1000 genomes]
rs11731685	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11732057	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11734374	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11736950	0.81[AFR][1000 genomes]
rs17164384	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28578449	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28621675	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs28785628	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28855974	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28856334	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59465697	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6599284	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6599285	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6812059	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6836158	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6836335	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73065688	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73065696	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73065698	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73067706	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73067775	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73067776	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73219741	1.00[ASN][1000 genomes]
rs7676956	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7678661	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7679718	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7684536	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7685051	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7690300	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7690832	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs878324	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 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	nsv1003876	chr4:927509-1191316	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
5	nsv1000381	chr4:927509-1198766	Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
6	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
7	nsv1012892	chr4:1086871-1176630	Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
8	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
9	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
10	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
11	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
12	nsv519106	chr4:1158991-1174861	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
13	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
14	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
15	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
16	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
17	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
18	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

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:1167000-1174200	Weak transcription	Primary T cells from cord blood	blood
2	chr4:1167200-1172800	Weak transcription	Right Atrium	heart
3	chr4:1167200-1174200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr4:1167400-1172600	Weak transcription	Lung	lung
5	chr4:1167400-1173400	Enhancers	Fetal Muscle Leg	muscle
6	chr4:1167800-1173800	Enhancers	Liver	Liver
7	chr4:1168000-1172200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr4:1169800-1173200	Enhancers	Primary T cells fromperipheralblood	blood
9	chr4:1169800-1173200	Enhancers	Fetal Muscle Trunk	muscle
10	chr4:1170200-1172600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr4:1170400-1173400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
12	chr4:1170600-1172800	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr4:1170600-1172800	Enhancers	Spleen	Spleen
14	chr4:1170600-1173000	Enhancers	Left Ventricle	heart
15	chr4:1170600-1173200	Enhancers	Psoas Muscle	Psoas
16	chr4:1170600-1173400	Enhancers	Stomach Mucosa	stomach
17	chr4:1170800-1171800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr4:1170800-1171800	Enhancers	Colonic Mucosa	Colon
19	chr4:1170800-1171800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
20	chr4:1170800-1172400	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr4:1170800-1172400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr4:1170800-1172800	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr4:1170800-1172800	Enhancers	Esophagus	oesophagus
24	chr4:1170800-1172800	Enhancers	HMEC	breast
25	chr4:1170800-1173000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr4:1170800-1173000	Enhancers	HSMM	muscle
27	chr4:1170800-1173000	Enhancers	HSMMtube	muscle
28	chr4:1170800-1173200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr4:1170800-1173400	Enhancers	Primary T killer memory cells from peripheral blood	blood
30	chr4:1171000-1171800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr4:1171000-1171800	Enhancers	Fetal Heart	heart
32	chr4:1171000-1171800	Enhancers	Rectal Mucosa Donor 29	rectum
33	chr4:1171000-1171800	Enhancers	GM12878-XiMat	blood
34	chr4:1171000-1172200	Enhancers	Rectal Mucosa Donor 31	rectum
35	chr4:1171000-1172400	Genic enhancers	Gastric	stomach
36	chr4:1171000-1172400	Enhancers	NHDF-Ad	bronchial
37	chr4:1171000-1173200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr4:1171200-1171800	Enhancers	Brain Anterior Caudate	brain
39	chr4:1171200-1171800	Enhancers	Duodenum Mucosa	Duodenum
40	chr4:1171200-1171800	Flanking Active TSS	NHEK	skin
41	chr4:1171200-1172000	Active TSS	Hela-S3	cervix
42	chr4:1171200-1172000	Enhancers	NH-A	brain
43	chr4:1171400-1171800	Enhancers	Fetal Intestine Small	intestine
44	chr4:1171400-1171800	Bivalent Enhancer	Fetal Stomach	stomach
45	chr4:1171400-1172000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
46	chr4:1171400-1172000	Bivalent Enhancer	Placenta	Placenta
47	chr4:1171600-1172000	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr4:1171600-1172000	Enhancers	Stomach Smooth Muscle	stomach
49	chr4:1171600-1172000	Enhancers	HepG2	liver
50	chr4:1171600-1172000	Genic enhancers	NHLF	lung

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