Variant report

Variant	rs7698056
Chromosome Location	chr4:166247185-166247186
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:135)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:135 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr4:166246475-166247352	GM12892	blood:	n/a	n/a
2	ZC3H11A	chr4:166246811-166247661	K562	blood:	n/a	n/a
3	POLR2A	chr4:166246698-166247590	HUVEC	blood vessel:	n/a	n/a
4	ATF3	chr4:166246887-166247321	K562	blood:	n/a	n/a
5	POLR2A	chr4:166246907-166247303	HUVEC	blood vessel:	n/a	n/a
6	SMC3	chr4:166247021-166247396	Hela-S3	cervix:	n/a	n/a
7	ARID3A	chr4:166247006-166247696	K562	blood:	n/a	n/a
8	BHLHE40	chr4:166247011-166247381	K562	blood:	n/a	n/a
9	MAFK	chr4:166246902-166247382	H1-hESC	embryonic stem cell:	n/a	n/a
10	FOSL2	chr4:166246906-166247413	MCF-7	breast:	n/a	n/a
11	POLR2A	chr4:166246756-166254107	MCF10A-Er-Src	breast:	n/a	n/a
12	TEAD4	chr4:166246887-166247354	K562	blood:	n/a	n/a
13	POLR2A	chr4:166246775-166247404	U87	brain:	n/a	n/a
14	TBL1XR1	chr4:166246925-166247337	K562	blood:	n/a	n/a
15	MAZ	chr4:166247043-166247299	Hela-S3	cervix:	n/a	n/a
16	SETDB1	chr4:166246744-166247328	U2OS	brain:	n/a	n/a
17	EP300	chr4:166247163-166247350	GM12878	blood:	n/a	n/a
18	POLR2A	chr4:166246872-166247251	SK-N-SH	brain:	n/a	n/a
19	CEBPB	chr4:166246917-166247683	K562	blood:	n/a	n/a
20	POLR2A	chr4:166246495-166247678	H1-hESC	embryonic stem cell:	n/a	n/a
21	STAT3	chr4:166247091-166247350	MCF10A-Er-Src	breast:	n/a	n/a
22	CEBPB	chr4:166246905-166247594	IMR90	lung:	n/a	n/a
23	MAZ	chr4:166246750-166247501	K562	blood:	n/a	n/a
24	NFATC1	chr4:166246773-166247426	GM12878	blood:	n/a	n/a
25	TEAD4	chr4:166246976-166247302	H1-hESC	embryonic stem cell:	n/a	n/a
26	MAFF	chr4:166246976-166247385	HepG2	liver:	n/a	chr4:166247135-166247153 chr4:166247160-166247178
27	CBX3	chr4:166246634-166247386	K562	blood:	n/a	n/a
28	POLR2A	chr4:166246687-166247349	H1-hESC	embryonic stem cell:	n/a	n/a
29	EP300	chr4:166246878-166247520	HepG2	liver:	n/a	n/a
30	POLR2A	chr4:166246470-166247660	HCT-116	colon:	n/a	n/a
31	STAT3	chr4:166247009-166247263	Hela-S3	cervix:	n/a	n/a
32	FOXA1	chr4:166247012-166247489	HepG2	liver:	n/a	n/a
33	POLR2A	chr4:166247098-166247559	K562	blood:	n/a	n/a
34	SP1	chr4:166246702-166247532	HCT-116	colon:	n/a	n/a
35	MYBL2	chr4:166246945-166247458	HepG2	liver:	n/a	n/a
36	CEBPB	chr4:166247094-166247466	HepG2	liver:	n/a	n/a
37	STAT3	chr4:166247015-166247425	MCF10A-Er-Src	breast:	n/a	n/a
38	GATA1	chr4:166246030-166247702	PBDE	blood:	n/a	n/a
39	JUN	chr4:166246929-166247929	K562	blood:	n/a	n/a
40	FOXA1	chr4:166247061-166247467	HepG2	liver:	n/a	n/a
41	ZNF143	chr4:166246840-166247498	K562	blood:	n/a	n/a
42	MAFF	chr4:166246801-166247712	K562	blood:	n/a	chr4:166247135-166247153 chr4:166247160-166247178
43	RAD21	chr4:166247059-166247297	Hela-S3	cervix:	n/a	n/a
44	HMGN3	chr4:166246904-166247582	K562	blood:	n/a	n/a
45	UBTF	chr4:166246893-166247231	K562	blood:	n/a	n/a
46	JUND	chr4:166246989-166247387	Hela-S3	cervix:	n/a	chr4:166247135-166247146 chr4:166247160-166247171
47	CUX1	chr4:166246912-166247312	K562	blood:	n/a	n/a
48	RFX5	chr4:166247031-166247267	Hela-S3	cervix:	n/a	n/a
49	FOXA2	chr4:166247043-166247417	HepG2	liver:	n/a	n/a
50	JUND	chr4:166247046-166247306	HepG2	liver:	n/a	chr4:166247135-166247146 chr4:166247160-166247171

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:166033254..166035775-chr4:166247057..166248909,2	MCF-7	breast:
2	chr4:166127386..166130072-chr4:166247171..166250406,6	MCF-7	breast:
3	chr4:166128531..166130929-chr4:166246215..166249595,5	MCF-7	breast:

No data

Variant related genes	Relation type
MSMO1	TF binding region
ENSG00000109466	Chromatin interaction
ENSG00000170088	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10009994	0.96[CEU][hapmap];0.84[MEX][hapmap];0.91[TSI][hapmap];0.88[EUR][1000 genomes]
rs10015240	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11726531	0.82[CEU][hapmap];0.89[MEX][hapmap]
rs13353543	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs16999615	0.84[MEX][hapmap]
rs17842697	0.84[MEX][hapmap]
rs17842699	0.84[MEX][hapmap]
rs28678193	0.94[EUR][1000 genomes]
rs28678592	0.89[CEU][hapmap]
rs3756015	0.96[CEU][hapmap];0.85[GIH][hapmap];0.84[MEX][hapmap];0.89[TSI][hapmap];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4588420	0.89[CEU][hapmap]
rs57720293	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs60759634	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6536903	0.84[ASW][hapmap];0.96[CEU][hapmap];1.00[GIH][hapmap];0.87[JPT][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.93[TSI][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6828824	0.84[ASW][hapmap];1.00[CEU][hapmap];0.87[JPT][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];0.91[TSI][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6830714	0.84[MEX][hapmap]
rs7662569	0.82[CEU][hapmap]
rs7685245	0.84[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022210	chr4:165792630-166251612	Genic enhancers Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv537337	chr4:165792630-166251612	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:166220000-166247400	Weak transcription	Fetal Stomach	stomach
2	chr4:166220000-166247800	Weak transcription	Right Ventricle	heart
3	chr4:166223400-166247400	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr4:166223400-166247600	Weak transcription	Thymus	Thymus
5	chr4:166223400-166247800	Weak transcription	Aorta	Aorta
6	chr4:166223400-166248000	Weak transcription	Gastric	stomach
7	chr4:166223600-166247200	Weak transcription	Brain Angular Gyrus	brain
8	chr4:166223600-166247200	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr4:166223600-166247400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr4:166223600-166247400	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr4:166223600-166247600	Weak transcription	Fetal Lung	lung
12	chr4:166223800-166247600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr4:166224200-166247400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr4:166224200-166247600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr4:166224400-166247600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr4:166230800-166247400	Weak transcription	Brain Germinal Matrix	brain
17	chr4:166230800-166247400	Weak transcription	Fetal Muscle Leg	muscle
18	chr4:166232000-166247200	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr4:166232000-166247200	Weak transcription	Brain Substantia Nigra	brain
20	chr4:166232800-166247200	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr4:166233000-166248000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr4:166233400-166247200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr4:166233400-166247600	Weak transcription	Adipose Nuclei	Adipose
24	chr4:166233400-166247800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr4:166233400-166248000	Weak transcription	Left Ventricle	heart
26	chr4:166234000-166247200	Weak transcription	Primary hematopoietic stem cells	blood
27	chr4:166234000-166247600	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr4:166234400-166247400	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr4:166236200-166247400	Weak transcription	Primary B cells from peripheral blood	blood
30	chr4:166238800-166247200	Weak transcription	A549	lung
31	chr4:166240400-166247200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr4:166240600-166247200	Weak transcription	Fetal Brain Female	brain
33	chr4:166240800-166247400	Weak transcription	Fetal Brain Male	brain
34	chr4:166241000-166247800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr4:166241800-166247600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr4:166242200-166247200	Weak transcription	Primary T cells from cord blood	blood
37	chr4:166242200-166247400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr4:166244600-166247400	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr4:166245200-166247200	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr4:166245400-166247200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr4:166245400-166247200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr4:166245400-166247600	Enhancers	HMEC	breast
43	chr4:166245800-166247600	Enhancers	Fetal Intestine Large	intestine
44	chr4:166246400-166247200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr4:166246400-166247200	Enhancers	HUVEC	blood vessel
46	chr4:166246400-166247400	Enhancers	Duodenum Mucosa	Duodenum
47	chr4:166246400-166247600	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr4:166246600-166247200	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr4:166246600-166247200	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr4:166246600-166247200	Enhancers	Primary hematopoietic stem cells short term culture	blood

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