Variant report

Variant	rs3812186
Chromosome Location	chr6:4136166-4136167
allele	A/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	YY1	chr6:4135950-4136546	K562	blood:	n/a	n/a
2	MXI1	chr6:4135164-4136590	HepG2	liver:	n/a	n/a
3	POLR2A	chr6:4135161-4136663	Hela-S3	cervix:	n/a	n/a
4	MYC	chr6:4135055-4136536	NB4	blood:	n/a	chr6:4136289-4136298
5	TRIM28	chr6:4136119-4136737	K562	blood:	n/a	n/a
6	JUND	chr6:4136075-4136528	K562	blood:	n/a	n/a
7	ZMIZ1	chr6:4136145-4136629	K562	blood:	n/a	n/a
8	MAX	chr6:4135977-4136665	A549	lung:	n/a	chr6:4136289-4136298
9	MYC	chr6:4136014-4136464	MCF10A-Er-Src	breast:	n/a	chr6:4136289-4136298
10	POLR2A	chr6:4135313-4136599	HUVEC	blood vessel:	n/a	n/a
11	POLR2A	chr6:4135079-4136590	HepG2	liver:	n/a	n/a
12	POLR2A	chr6:4136153-4136649	H1-hESC	embryonic stem cell:	n/a	n/a
13	TCF12	chr6:4136117-4136599	ECC-1	luminal epithelium:	n/a	n/a
14	TAF1	chr6:4136154-4136421	PFSK-1	brain:	n/a	n/a
15	POLR2A	chr6:4135364-4136581	MCF-7	breast:	n/a	n/a
16	POLR2A	chr6:4136143-4136540	GM12878	blood:	n/a	n/a
17	MAX	chr6:4136071-4136522	HepG2	liver:	n/a	chr6:4136289-4136298
18	TBP	chr6:4135143-4136710	K562	blood:	n/a	n/a
19	GABPA	chr6:4135986-4136510	K562	blood:	n/a	n/a
20	TEAD4	chr6:4136118-4136645	ECC-1	luminal epithelium:	n/a	n/a
21	TAF1	chr6:4136141-4136425	SK-N-SH	brain:	n/a	n/a
22	ZBTB7A	chr6:4136066-4136534	K562	blood:	n/a	chr6:4136443-4136452
23	MAX	chr6:4136151-4136511	SK-N-SH	brain:	n/a	chr6:4136289-4136298
24	IRF1	chr6:4135158-4136680	K562	blood:	n/a	chr6:4135177-4135190 chr6:4135178-4135192 chr6:4135178-4135190 chr6:4135178-4135191 chr6:4135178-4135191 chr6:4135179-4135193 chr6:4135178-4135189 chr6:4135177-4135197 chr6:4135178-4135191 chr6:4135178-4135191
25	HMGN3	chr6:4135260-4136604	K562	blood:	n/a	n/a
26	POLR2A	chr6:4135168-4136541	GM19099	blood:	n/a	n/a
27	ZNF263	chr6:4136129-4136978	HEK293-T-REx	kidney:	n/a	n/a
28	POLR2A	chr6:4136159-4136678	U87	brain:	n/a	n/a
29	POLR2A	chr6:4135474-4136592	MCF-7	breast:	n/a	n/a
30	MAX	chr6:4136095-4136602	Hela-S3	cervix:	n/a	chr6:4136289-4136298
31	JUND	chr6:4136122-4136461	A549	lung:	n/a	n/a
32	EGR1	chr6:4135980-4136397	GM12878	blood:	n/a	chr6:4136139-4136153 chr6:4136231-4136240 chr6:4136187-4136201
33	HEY1	chr6:4136036-4136508	HepG2	liver:	n/a	n/a
34	CHD2	chr6:4135163-4136550	Hela-S3	cervix:	n/a	chr6:4136253-4136263
35	TAF1	chr6:4136149-4136476	SK-N-SH	brain:	n/a	n/a
36	UBTF	chr6:4136122-4136754	K562	blood:	n/a	n/a
37	MAX	chr6:4135920-4136607	MCF-7	breast:	n/a	chr6:4136289-4136298
38	POLR2A	chr6:4136163-4136570	SK-N-MC	brain:	n/a	n/a
39	HDAC2	chr6:4136015-4136728	MCF-7	breast:	n/a	n/a
40	POLR2A	chr6:4135067-4136561	GM15510	blood:	n/a	n/a
41	NR2F2	chr6:4136157-4136733	K562	blood:	n/a	n/a
42	YY1	chr6:4135271-4136616	HepG2	liver:	n/a	n/a
43	CEBPD	chr6:4136121-4136577	HepG2	liver:	n/a	n/a
44	POLR2A	chr6:4136137-4136556	PANC-1	pancreas:	n/a	n/a
45	RUNX3	chr6:4136073-4136599	GM12878	blood:	n/a	n/a
46	SPI1	chr6:4136132-4136332	K562	blood:	n/a	chr6:4136294-4136307
47	POLR2A	chr6:4136054-4136604	MCF-7	breast:	n/a	n/a
48	POLR2A	chr6:4136002-4136488	A549	lung:	n/a	n/a
49	YY1	chr6:4136112-4136439	GM12878	blood:	n/a	n/a
50	MAZ	chr6:4135282-4136800	GM12878	blood:	n/a	chr6:4136289-4136298

No.	Distal block	Cell Line	Cell type
1	chr11:288787..289365-chr6:4136018..4136659,2	NB4	blood:
2	chr15:66796710..66797327-chr6:4135519..4136323,2	Hela-S3	cervix:
3	chr6:4016355..4024618-chr6:4131840..4138381,21	K562	blood:
4	chr6:4017302..4025509-chr6:4131840..4138381,19	K562	blood:

Variant related genes	Relation type
ENSG00000234817	TF binding region
ECI2	TF binding region
ENSG00000174442	Chromatin interaction
ENSG00000142102	Chromatin interaction
ENSG00000230648	Chromatin interaction
ENSG00000272248	Chromatin interaction
ENSG00000174444	Chromatin interaction
ENSG00000112739	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11751668	0.96[ASN][1000 genomes]
rs11753305	0.83[ASN][1000 genomes]
rs11754487	0.82[ASN][1000 genomes]
rs11754986	0.95[ASN][1000 genomes]
rs3789215	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3804317	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4443542	0.96[ASN][1000 genomes]
rs6916172	0.96[ASN][1000 genomes]
rs6932036	0.81[ASN][1000 genomes]
rs6935587	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9378841	0.96[ASN][1000 genomes]
rs9378842	0.96[ASN][1000 genomes]
rs9378843	0.81[ASN][1000 genomes]
rs9392552	0.96[ASN][1000 genomes]
rs9392554	0.95[ASN][1000 genomes]
rs9392555	0.93[ASN][1000 genomes]
rs9392556	0.81[ASN][1000 genomes]
rs9405220	0.95[ASN][1000 genomes]
rs9405221	0.95[ASN][1000 genomes]
rs9405702	0.93[ASN][1000 genomes]
rs9503933	0.94[ASN][1000 genomes]
rs9503934	0.96[ASN][1000 genomes]
rs9503936	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532020	chr6:3417520-4140257	Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv1022968	chr6:3862744-4272502	Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	nsv538106	chr6:3862744-4272502	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	nsv1030104	chr6:4062894-4240269	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	esv2422231	chr6:4100333-4233454	Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer 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	23 gene(s)	inside rSNPs	diseases
6	esv2422457	chr6:4100333-4377396	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
7	esv3413228	chr6:4134778-4137526	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
8	esv3369872	chr6:4134903-4137401	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:4133800-4136800	Active TSS	H1 Cell Line	embryonic stem cell
2	chr6:4133800-4136800	Active TSS	H9 Cell Line	embryonic stem cell
3	chr6:4134000-4136800	Active TSS	Ovary	ovary
4	chr6:4134000-4136800	Active TSS	Rectal Mucosa Donor 29	rectum
5	chr6:4134200-4136800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr6:4134200-4136800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr6:4134200-4137000	Active TSS	Aorta	Aorta
8	chr6:4134400-4136600	Active TSS	HUES6 Cell Line	embryonic stem cell
9	chr6:4134400-4136600	Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr6:4134400-4136600	Active TSS	Fetal Brain Female	brain
11	chr6:4134400-4136600	Active TSS	Hela-S3	cervix
12	chr6:4134400-4136800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr6:4134400-4137000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr6:4134600-4136400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr6:4134600-4136400	Active TSS	Fetal Intestine Large	intestine
16	chr6:4134600-4136400	Active TSS	HSMM	muscle
17	chr6:4134600-4136400	Active TSS	K562	blood
18	chr6:4134600-4136600	Active TSS	ES-I3 Cell Line	embryonic stem cell
19	chr6:4134600-4136600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr6:4134600-4136600	Active TSS	HUES48 Cell Line	embryonic stem cell
21	chr6:4134600-4136600	Active TSS	iPS-18 Cell Line	embryonic stem cell
22	chr6:4134600-4136600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr6:4134600-4136600	Active TSS	Gastric	stomach
24	chr6:4134600-4136600	Bivalent/Poised TSS	HepG2	liver
25	chr6:4134600-4136600	Active TSS	HSMMtube	muscle
26	chr6:4134600-4136800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
27	chr6:4134600-4136800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr6:4134600-4136800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr6:4134600-4136800	Active TSS	HUES64 Cell Line	embryonic stem cell
30	chr6:4134600-4136800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
31	chr6:4134600-4136800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr6:4134600-4136800	Active TSS	Brain Anterior Caudate	brain
33	chr6:4134600-4136800	Active TSS	Brain Inferior Temporal Lobe	brain
34	chr6:4134600-4136800	Active TSS	Esophagus	oesophagus
35	chr6:4134600-4136800	Active TSS	Right Ventricle	heart
36	chr6:4134600-4136800	Active TSS	A549	lung
37	chr6:4134600-4136800	Active TSS	NHDF-Ad	bronchial
38	chr6:4134600-4137000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr6:4134600-4137000	Active TSS	Pancreatic Islets	Pancreatic Islet
40	chr6:4134800-4136400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr6:4134800-4136400	Active TSS	Primary T cells fromperipheralblood	blood
42	chr6:4134800-4136400	Active TSS	Primary T helper cells PMA-I stimulated	--
43	chr6:4134800-4136400	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
44	chr6:4134800-4136400	Active TSS	Muscle Satellite Cultured Cells	--
45	chr6:4134800-4136400	Active TSS	Liver	Liver
46	chr6:4134800-4136400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
47	chr6:4134800-4136400	Active TSS	Fetal Muscle Leg	muscle
48	chr6:4134800-4136400	Active TSS	Placenta	Placenta
49	chr6:4134800-4136400	Active TSS	Fetal Thymus	thymus
50	chr6:4134800-4136400	Active TSS	Skeletal Muscle Female	skeletal muscle

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