Variant report

Variant	rs4151702
Chromosome Location	chr6:36645988-36645989
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	chr6:36645054-36646335	MCF10A-Er-Src	breast:	n/a	chr6:36645802-36645822 chr6:36645808-36645817 chr6:36645808-36645816 chr6:36645802-36645822 chr6:36645807-36645816
2	KAP1	chr6:36644788-36646792	HEK293	kidney:	n/a	n/a
3	TCF12	chr6:36645933-36647490	ECC-1	luminal epithelium:	n/a	chr6:36646343-36646350 chr6:36646484-36646491
4	GATA3	chr6:36645904-36647347	A549	lung:	n/a	n/a
5	NFIC	chr6:36645088-36646823	HepG2	liver:	n/a	n/a
6	MAX	chr6:36645923-36647461	A549	lung:	n/a	n/a
7	SP1	chr6:36645479-36646038	HepG2	liver:	n/a	n/a
8	NFATC1	chr6:36645726-36649059	GM12878	blood:	n/a	n/a
9	FOXA1	chr6:36645399-36646046	HepG2	liver:	n/a	n/a
10	MAZ	chr6:36645377-36649066	IMR90	lung:	n/a	chr6:36648002-36648011
11	MAX	chr6:36645983-36646993	SK-N-SH	brain:	n/a	n/a
12	SIN3AK20	chr6:36645970-36647256	MCF-7	breast:	n/a	n/a
13	WRNIP1	chr6:36645250-36647385	GM12878	blood:	n/a	n/a
14	EP300	chr6:36645336-36646668	HepG2	liver:	n/a	n/a
15	EP300	chr6:36645859-36647516	ECC-1	luminal epithelium:	n/a	chr6:36646808-36646824
16	HEY1	chr6:36644699-36647538	HepG2	liver:	n/a	chr6:36646439-36646454 chr6:36646399-36646414
17	RAD21	chr6:36643874-36649108	SK-N-SH	brain:	n/a	chr6:36644187-36644201 chr6:36646425-36646439 chr6:36646938-36646951 chr6:36647756-36647766 chr6:36644031-36644045
18	ZEB1	chr6:36644713-36647578	HepG2	liver:	n/a	n/a
19	FOSL2	chr6:36645983-36647637	SK-N-SH	brain:	n/a	chr6:36647611-36647620 chr6:36647213-36647224 chr6:36647210-36647222 chr6:36647211-36647221 chr6:36647211-36647220 chr6:36647211-36647221 chr6:36647211-36647221 chr6:36647211-36647221
20	CTCF	chr6:36644682-36649046	SK-N-SH	brain:	n/a	chr6:36644843-36644861 chr6:36647784-36647797 chr6:36646423-36646441 chr6:36645963-36645970 chr6:36647827-36647836 chr6:36647770-36647780
21	RELA	chr6:36645476-36646918	GM19099	blood:	n/a	n/a
22	E2F6	chr6:36645672-36647088	A549	lung:	n/a	chr6:36646398-36646407
23	ARID3A	chr6:36645573-36646745	HepG2	liver:	n/a	n/a
24	MXI1	chr6:36643959-36649033	IMR90	lung:	n/a	n/a
25	POLR2A	chr6:36643939-36647410	HepG2	liver:	n/a	n/a
26	POLR2A	chr6:36644766-36648199	MCF10A-Er-Src	breast:	n/a	n/a
27	TEAD4	chr6:36645211-36646668	HepG2	liver:	n/a	n/a
28	POLR2A	chr6:36645943-36649050	HUVEC	blood vessel:	n/a	n/a
29	MAX	chr6:36645988-36647378	A549	lung:	n/a	n/a
30	PML	chr6:36644718-36649008	GM12878	blood:	n/a	chr6:36648003-36648012
31	POLR2A	chr6:36645352-36648955	HepG2	liver:	n/a	n/a
32	IRF1	chr6:36645855-36645990	K562	blood:	n/a	n/a
33	CTCF	chr6:36645960-36646110	HCM	heart:	n/a	chr6:36645963-36645970
34	CEBPB	chr6:36645922-36646319	A549	lung:	n/a	n/a
35	POLR2A	chr6:36645933-36657594	GM12878	blood:	n/a	n/a
36	TCF12	chr6:36645932-36647601	ECC-1	luminal epithelium:	n/a	chr6:36646343-36646350 chr6:36646484-36646491
37	CTCF	chr6:36645980-36646130	HPAF	blood vessel:	n/a	n/a
38	RCOR1	chr6:36645890-36646728	HepG2	liver:	n/a	n/a
39	MAFK	chr6:36645930-36648019	Hela-S3	cervix:	n/a	chr6:36647899-36647914 chr6:36646273-36646288 chr6:36647135-36647152
40	MAX	chr6:36643823-36648608	HepG2	liver:	n/a	chr6:36648002-36648011
41	SRF	chr6:36645485-36646045	ECC-1	luminal epithelium:	n/a	chr6:36645773-36645791 chr6:36645774-36645791
42	POLR2A	chr6:36644830-36649007	GM12878	blood:	n/a	n/a
43	RELA	chr6:36645060-36646770	GM12891	blood:	n/a	n/a
44	SRF	chr6:36645472-36646774	ECC-1	luminal epithelium:	n/a	chr6:36645773-36645791 chr6:36645774-36645791
45	SIN3AK20	chr6:36645929-36648732	MCF-7	breast:	n/a	n/a
46	POLR2A	chr6:36644736-36646047	HepG2	liver:	n/a	n/a
47	MAX	chr6:36645941-36647136	MCF-7	breast:	n/a	n/a
48	SIN3A	chr6:36645882-36647511	H1-hESC	embryonic stem cell:	n/a	n/a
49	MXI1	chr6:36643752-36648956	SK-N-SH	brain:	n/a	n/a
50	SMC3	chr6:36645707-36647405	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:36645391..36647920-chr6:36680659..36684331,3	MCF-7	breast:
2	chr6:36589971..36596625-chr6:36645571..36650576,10	K562	blood:
3	chr17:57914670..57916833-chr6:36645394..36647964,3	MCF-7	breast:
4	chr6:36644838..36653438-chr6:36718524..36730954,23	MCF-7	breast:
5	chr6:36644040..36648031-chr6:36680924..36685784,5	MCF-7	breast:
6	chr17:56707748..56709290-chr6:36645821..36647810,2	MCF-7	breast:
7	chr6:36581224..36597272-chr6:36642199..36659412,120	MCF-7	breast:
8	chr6:36560711..36564837-chr6:36645733..36649715,9	K562	blood:
9	chr6:36560285..36563984-chr6:36645642..36649715,8	K562	blood:
10	chr6:36559895..36571260-chr6:36642384..36648914,19	MCF-7	breast:
11	chr6:36606453..36608701-chr6:36645452..36648033,2	MCF-7	breast:
12	chr6:36645102..36656546-chr6:36717974..36730993,29	MCF-7	breast:
13	chr6:36589213..36595227-chr6:36645571..36651666,9	K562	blood:
14	chr6:36560169..36564521-chr6:36645252..36648947,8	MCF-7	breast:
15	chr6:36581748..36603537-chr6:36641861..36652365,77	MCF-7	breast:

Variant related genes	Relation type
CDKN1A	TF binding region
ENSG00000263894	Chromatin interaction
ENSG00000212195	Chromatin interaction
ENSG00000255587	Chromatin interaction
ENSG00000062716	Chromatin interaction
ENSG00000124772	Chromatin interaction
ENSG00000238554	Chromatin interaction
ENSG00000112081	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs3176326	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs730506	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1031191	chr6:36588974-36718015	Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv538201	chr6:36588974-36718015	Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv885807	chr6:36645696-36651889	Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:36642400-36646400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr6:36643600-36646000	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr6:36643800-36646000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr6:36643800-36646000	Enhancers	Brain Substantia Nigra	brain
5	chr6:36643800-36646000	Enhancers	NH-A	brain
6	chr6:36643800-36646200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr6:36643800-36646200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr6:36643800-36646400	Bivalent Enhancer	Fetal Thymus	thymus
9	chr6:36643800-36646400	Enhancers	Pancreas	Pancrea
10	chr6:36643800-36646400	Enhancers	Stomach Mucosa	stomach
11	chr6:36643800-36646400	Flanking Active TSS	NHEK	skin
12	chr6:36644000-36646000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr6:36644000-36646000	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr6:36644000-36646000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr6:36644000-36646000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr6:36644000-36646000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr6:36644000-36646000	Enhancers	Brain Anterior Caudate	brain
18	chr6:36644000-36646000	Enhancers	Colonic Mucosa	Colon
19	chr6:36644000-36646000	Bivalent Enhancer	Fetal Muscle Leg	muscle
20	chr6:36644000-36646200	Enhancers	Esophagus	oesophagus
21	chr6:36644000-36646200	Flanking Active TSS	HSMM	muscle
22	chr6:36644000-36646400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr6:36644000-36646400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr6:36644000-36646400	Enhancers	Placenta	Placenta
25	chr6:36644000-36646400	Enhancers	Lung	lung
26	chr6:36644000-36646400	Flanking Active TSS	HMEC	breast
27	chr6:36644200-36646000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr6:36644200-36646200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr6:36644200-36647600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr6:36644400-36646000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
31	chr6:36644400-36646000	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr6:36644400-36646400	Weak transcription	Spleen	Spleen
33	chr6:36644600-36646000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
34	chr6:36644800-36646000	Enhancers	Liver	Liver
35	chr6:36644800-36646000	Enhancers	Brain Inferior Temporal Lobe	brain
36	chr6:36644800-36646200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr6:36644800-36646200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
38	chr6:36644800-36646200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr6:36644800-36646200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr6:36644800-36646200	Flanking Active TSS	HSMMtube	muscle
41	chr6:36644800-36646400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
42	chr6:36644800-36646400	Flanking Active TSS	GM12878-XiMat	blood
43	chr6:36645000-36646000	Enhancers	Brain Hippocampus Middle	brain
44	chr6:36645000-36646200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
45	chr6:36645000-36646200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
46	chr6:36645000-36646200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr6:36645000-36646200	Weak transcription	Ovary	ovary
48	chr6:36645000-36646200	Weak transcription	Right Ventricle	heart
49	chr6:36645000-36646200	Bivalent Enhancer	Dnd41	blood
50	chr6:36645000-36646400	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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