Variant report

Variant	rs2181894
Chromosome Location	chr6:4022611-4022612
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	CHD1	chr6:4021383-4023114	GM12878	blood:	n/a	chr6:4021945-4021955
2	MXI1	chr6:4020932-4022924	IMR90	lung:	n/a	n/a
3	TBP	chr6:4021050-4022647	HepG2	liver:	n/a	n/a
4	YY1	chr6:4021035-4022669	SK-N-SH	brain:	n/a	chr6:4021979-4021990 chr6:4021655-4021667
5	EP300	chr6:4022556-4022998	GM12878	blood:	n/a	n/a
6	CHD1	chr6:4021134-4022744	H1-hESC	embryonic stem cell:	n/a	chr6:4021945-4021955
7	RFX5	chr6:4022556-4022974	HepG2	liver:	n/a	chr6:4022670-4022687 chr6:4022770-4022785 chr6:4022671-4022686 chr6:4022769-4022783 chr6:4022671-4022686
8	POLR2A	chr6:4020889-4022961	GM12891	blood:	n/a	n/a
9	TAL1	chr6:4022575-4023013	K562	blood:	n/a	n/a
10	SIN3A	chr6:4021175-4022662	H1-hESC	embryonic stem cell:	n/a	chr6:4021910-4021921
11	SIN3AK20	chr6:4022552-4022989	K562	blood:	n/a	n/a
12	MXI1	chr6:4021174-4022704	GM12878	blood:	n/a	n/a
13	MYC	chr6:4021010-4022879	K562	blood:	n/a	n/a
14	MXI1	chr6:4021084-4022981	K562	blood:	n/a	n/a
15	POLR2A	chr6:4021099-4023322	MCF10A-Er-Src	breast:	n/a	n/a
16	RFX5	chr6:4022554-4022969	K562	blood:	n/a	chr6:4022670-4022687 chr6:4022770-4022785 chr6:4022671-4022686 chr6:4022769-4022783 chr6:4022671-4022686
17	CHD1	chr6:4021012-4024108	IMR90	lung:	n/a	chr6:4021945-4021955
18	TEAD4	chr6:4022558-4023022	K562	blood:	n/a	n/a
19	YY1	chr6:4022589-4022928	GM12878	blood:	n/a	n/a
20	NFYB	chr6:4022385-4022731	GM12878	blood:	n/a	chr6:4022575-4022590
21	TBP	chr6:4022182-4023049	Hela-S3	cervix:	n/a	n/a
22	RFX5	chr6:4021162-4023030	Hela-S3	cervix:	n/a	chr6:4022670-4022687 chr6:4022770-4022785 chr6:4022671-4022686 chr6:4022769-4022783 chr6:4022671-4022686
23	TEAD4	chr6:4020777-4023001	K562	blood:	n/a	n/a
24	RFX5	chr6:4022592-4022952	GM12878	blood:	n/a	chr6:4022670-4022687 chr6:4022770-4022785 chr6:4022671-4022686 chr6:4022769-4022783 chr6:4022671-4022686
25	ZNF384	chr6:4021290-4022849	GM12878	blood:	n/a	n/a
26	MXI1	chr6:4020413-4023130	SK-N-SH	brain:	n/a	n/a
27	IRF1	chr6:4021066-4023164	K562	blood:	n/a	chr6:4022528-4022542 chr6:4022531-4022543 chr6:4023138-4023158 chr6:4023139-4023153 chr6:4022532-4022546 chr6:4023142-4023156 chr6:4022532-4022542
28	ZNF384	chr6:4021073-4022924	K562	blood:	n/a	n/a
29	NFYB	chr6:4022511-4022721	Hela-S3	cervix:	n/a	chr6:4022575-4022590
30	POLR2A	chr6:4020906-4022947	HepG2	liver:	n/a	n/a
31	POLR2A	chr6:4017528-4022907	K562	blood:	n/a	n/a
32	EP300	chr6:4022518-4022881	K562	blood:	n/a	chr6:4022527-4022541
33	EP300	chr6:4022477-4022751	GM12878	blood:	n/a	chr6:4022527-4022541
34	POLR2A	chr6:4022453-4022764	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:4016355..4024618-chr6:4131840..4138381,21	K562	blood:
2	chr6:4017302..4025509-chr6:4131840..4138381,19	K562	blood:
3	chr6:4019656..4024130-chr6:4049502..4053557,5	K562	blood:
4	chr6:4016030..4019961-chr6:4020836..4023596,5	MCF-7	breast:
5	chr6:3354766..3356285-chr6:4022348..4024808,2	K562	blood:
6	chr6:4020118..4023028-chr6:4056131..4059224,3	K562	blood:

Variant related genes	Relation type
ENSG00000230648	TF binding region
ENSG00000198721	Chromatin interaction
ENSG00000234817	Chromatin interaction
ENSG00000272248	Chromatin interaction
ENSG00000254821	Chromatin interaction
ENSG00000112739	Chromatin interaction
ENSG00000145975	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs12174184	0.95[ASN][1000 genomes]
rs1408457	0.94[ASN][1000 genomes]
rs1543355	0.90[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs2745451	1.00[JPT][hapmap]
rs3747761	0.89[ASN][1000 genomes]
rs3747762	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs3747763	0.89[ASN][1000 genomes]
rs3761787	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs4466281	0.95[ASN][1000 genomes]
rs4959916	0.95[ASN][1000 genomes]
rs4959918	0.90[ASN][1000 genomes]
rs4959919	0.88[ASN][1000 genomes]
rs6597024	0.81[ASN][1000 genomes]
rs6900476	0.95[ASN][1000 genomes]
rs6905475	0.87[ASN][1000 genomes]
rs6906467	1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs6910519	0.95[ASN][1000 genomes]
rs6914180	0.95[ASN][1000 genomes]
rs6916982	1.00[ASN][1000 genomes]
rs6921738	0.88[ASN][1000 genomes]
rs6924389	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs6930892	0.95[ASN][1000 genomes]
rs6933593	0.94[ASN][1000 genomes]
rs6939049	1.00[JPT][hapmap]
rs6941706	0.93[ASN][1000 genomes]
rs697745	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs707980	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs707981	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs707982	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs707983	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs707984	0.93[ASN][1000 genomes]
rs707985	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs707987	0.88[ASN][1000 genomes]
rs707988	0.88[ASN][1000 genomes]
rs7744603	0.95[ASN][1000 genomes]
rs7763233	0.95[ASN][1000 genomes]
rs853396	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs853397	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs853398	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs853399	0.89[ASN][1000 genomes]
rs853400	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs853402	0.86[ASN][1000 genomes]
rs853403	1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs853404	0.88[ASN][1000 genomes]
rs853405	1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs853406	1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs853407	0.92[JPT][hapmap];0.88[ASN][1000 genomes]
rs853408	1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs853410	0.88[ASN][1000 genomes]
rs853411	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs860477	0.88[ASN][1000 genomes]
rs860478	0.89[ASN][1000 genomes]
rs9328215	1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs9328216	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs9405694	0.95[ASN][1000 genomes]
rs941443	1.00[ASN][1000 genomes]
rs942474	0.94[ASN][1000 genomes]
rs9503893	1.00[JPT][hapmap];0.95[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	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:4017400-4023000	Active TSS	K562	blood
2	chr6:4019600-4023000	Active TSS	HUES64 Cell Line	embryonic stem cell
3	chr6:4020000-4023000	Active TSS	HUES6 Cell Line	embryonic stem cell
4	chr6:4020000-4023200	Active TSS	HSMM	muscle
5	chr6:4020000-4023400	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr6:4020200-4022800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr6:4020600-4022800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr6:4020800-4022800	Active TSS	iPS-15b Cell Line	embryonic stem cell
9	chr6:4020800-4022800	Active TSS	NHLF	lung
10	chr6:4020800-4022800	Active TSS	Osteobl	bone
11	chr6:4020800-4023000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr6:4020800-4023000	Active TSS	HUES48 Cell Line	embryonic stem cell
13	chr6:4020800-4023000	Active TSS	iPS-18 Cell Line	embryonic stem cell
14	chr6:4020800-4023000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr6:4020800-4023000	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr6:4020800-4023000	Active TSS	NH-A	brain
17	chr6:4020800-4023000	Active TSS	NHEK	skin
18	chr6:4020800-4023200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr6:4020800-4023200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr6:4020800-4023200	Active TSS	Colonic Mucosa	Colon
21	chr6:4020800-4023200	Active TSS	Right Ventricle	heart
22	chr6:4020800-4023200	Active TSS	NHDF-Ad	bronchial
23	chr6:4020800-4023400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr6:4020800-4023600	Active TSS	Psoas Muscle	Psoas
25	chr6:4020800-4023600	Active TSS	Thymus	Thymus
26	chr6:4020800-4023600	Active TSS	A549	lung
27	chr6:4020800-4024000	Active TSS	HMEC	breast
28	chr6:4021000-4022800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr6:4021000-4022800	Active TSS	Duodenum Smooth Muscle	Duodenum
30	chr6:4021000-4022800	Active TSS	Fetal Muscle Leg	muscle
31	chr6:4021000-4022800	Active TSS	Placenta	Placenta
32	chr6:4021000-4023000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr6:4021000-4023000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr6:4021000-4023000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
35	chr6:4021000-4023000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr6:4021000-4023000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr6:4021000-4023000	Active TSS	Fetal Intestine Large	intestine
38	chr6:4021000-4023000	Active TSS	Fetal Muscle Trunk	muscle
39	chr6:4021000-4023000	Active TSS	Fetal Stomach	stomach
40	chr6:4021000-4023000	Active TSS	Left Ventricle	heart
41	chr6:4021000-4023000	Active TSS	Ovary	ovary
42	chr6:4021000-4023000	Bivalent/Poised TSS	HepG2	liver
43	chr6:4021000-4023200	Active TSS	H9 Cell Line	embryonic stem cell
44	chr6:4021000-4023400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr6:4021000-4023600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr6:4021000-4023800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr6:4021000-4025000	Active TSS	GM12878-XiMat	blood
48	chr6:4021000-4025200	Active TSS	iPS-20b Cell Line	embryonic stem cell
49	chr6:4021200-4022800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr6:4021200-4022800	Active TSS	Cortex derived primary cultured neurospheres	brain

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