Variant report

Variant	rs57226222
Chromosome Location	chr6:74233191-74233192
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:270)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:270 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXM1	chr6:74233046-74233817	GM12878	blood:	n/a	n/a
2	CEBPD	chr6:74233156-74233686	HepG2	liver:	n/a	n/a
3	HEY1	chr6:74233040-74233802	HepG2	liver:	n/a	n/a
4	POLR2A	chr6:74233007-74233878	Hela-S3	cervix:	n/a	n/a
5	MYC	chr6:74233073-74233881	K562	blood:	n/a	n/a
6	GABPA	chr6:74233049-74233899	A549	lung:	n/a	chr6:74233318-74233327
7	MYC	chr6:74232687-74234001	K562	blood:	n/a	n/a
8	TAF1	chr6:74233080-74233806	GM12878	blood:	n/a	n/a
9	NFIC	chr6:74232897-74233996	GM12878	blood:	n/a	n/a
10	RUNX3	chr6:74233070-74233922	GM12878	blood:	n/a	n/a
11	MAZ	chr6:74233046-74233993	GM12878	blood:	n/a	n/a
12	POLR2A	chr6:74233047-74233791	H1-hESC	embryonic stem cell:	n/a	n/a
13	RELA	chr6:74233068-74233776	GM18951	blood:	n/a	n/a
14	CBX3	chr6:74232672-74233781	K562	blood:	n/a	n/a
15	IRF1	chr6:74232662-74234107	K562	blood:	n/a	n/a
16	MAZ	chr6:74233090-74233697	HepG2	liver:	n/a	n/a
17	REST	chr6:74233163-74233855	HL-60	blood:	n/a	n/a
18	POLR2A	chr6:74232667-74234114	K562	blood:	n/a	n/a
19	POLR2A	chr6:74233008-74233727	GM12878	blood:	n/a	n/a
20	ELF1	chr6:74232977-74233717	GM12878	blood:	n/a	n/a
21	EP300	chr6:74233158-74233559	HepG2	liver:	n/a	n/a
22	CCNT2	chr6:74233191-74233633	K562	blood:	n/a	chr6:74233264-74233273
23	YY1	chr6:74233058-74233688	K562	blood:	n/a	chr6:74233264-74233275
24	TCF3	chr6:74233167-74233653	GM12878	blood:	n/a	n/a
25	KAP1	chr6:74232741-74234215	HEK293	kidney:	n/a	n/a
26	POLR2A	chr6:74232596-74233967	K562	blood:	n/a	n/a
27	YY1	chr6:74233051-74233644	HepG2	liver:	n/a	chr6:74233264-74233275
28	POLR2A	chr6:74233109-74233978	HUVEC	blood vessel:	n/a	n/a
29	RCOR1	chr6:74233171-74233862	GM12878	blood:	n/a	n/a
30	POLR2A	chr6:74233033-74233758	HepG2	liver:	n/a	n/a
31	REST	chr6:74233013-74233749	K562	blood:	n/a	n/a
32	SIN3AK20	chr6:74233083-74233902	MCF-7	breast:	n/a	n/a
33	POLR2A	chr6:74233189-74233819	HUVEC	blood vessel:	n/a	n/a
34	ELF1	chr6:74233053-74233843	HepG2	liver:	n/a	n/a
35	MTA3	chr6:74232549-74233936	GM12878	blood:	n/a	n/a
36	MAX	chr6:74233087-74233843	K562	blood:	n/a	n/a
37	MAX	chr6:74233108-74234079	Hela-S3	cervix:	n/a	n/a
38	POLR2A	chr6:74233120-74233821	HUVEC	blood vessel:	n/a	n/a
39	EP300	chr6:74233171-74233916	GM12878	blood:	n/a	chr6:74233695-74233709
40	TAF1	chr6:74232971-74233849	K562	blood:	n/a	n/a
41	ELF1	chr6:74233069-74234065	MCF-7	breast:	n/a	n/a
42	HA-E2F1	chr6:74233176-74233651	Hela-S3	cervix:	n/a	n/a
43	PAX5	chr6:74232962-74233505	GM12878	blood:	n/a	n/a
44	POLR2A	chr6:74232293-74233978	GM12892	blood:	n/a	n/a
45	ELF1	chr6:74233128-74233707	HepG2	liver:	n/a	n/a
46	HNF4A	chr6:74233021-74233607	HepG2	liver:	n/a	n/a
47	MAZ	chr6:74233121-74233737	Hela-S3	cervix:	n/a	n/a
48	MXI1	chr6:74233173-74233989	K562	blood:	n/a	n/a
49	POLR2A	chr6:74232993-74233794	K562	blood:	n/a	n/a
50	TBL1XR1	chr6:74233101-74234150	K562	blood:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:74230158..74233335-chr6:74327185..74331083,5	K562	blood:
2	chr6:74228897..74233348-chr6:76310739..76313863,5	K562	blood:
3	chr6:74221323..74236726-chr6:74306065..74338770,101	K562	blood:
4	chr6:74228067..74234767-chr6:74357105..74365312,16	MCF-7	breast:
5	chr6:74231501..74234013-chr6:75953624..75956455,2	MCF-7	breast:
6	chr6:74219718..74234750-chr6:74354945..74369231,56	K562	blood:
7	chr6:74220976..74234980-chr6:74352572..74366941,62	K562	blood:
8	chr6:74233083..74233652-chr7:5820678..5821633,2	Hela-S3	cervix:
9	chr11:47585806..47587545-chr6:74230961..74233222,2	K562	blood:
10	chr6:74161775..74163563-chr6:74231007..74233412,2	MCF-7	breast:
11	chr6:74229165..74233433-chr6:74353361..74356645,5	MCF-7	breast:
12	chr6:74232912..74233717-chr7:154794709..154795565,2	NB4	blood:

No data

Variant related genes	Relation type
ENSG00000229862	TF binding region
EEF1A1	TF binding region
ENSG00000112695	Chromatin interaction
ENSG00000218459	Chromatin interaction
ENSG00000110536	Chromatin interaction
ENSG00000273344	Chromatin interaction
ENSG00000011275	Chromatin interaction
ENSG00000119899	Chromatin interaction
ENSG00000213619	Chromatin interaction
ENSG00000164430	Chromatin interaction
ENSG00000157212	Chromatin interaction
ENSG00000149187	Chromatin interaction
ENSG00000112701	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs12111143	0.90[AFR][1000 genomes]
rs3173188	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41501347	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58856847	0.96[AFR][1000 genomes]
rs59408050	0.81[AFR][1000 genomes]
rs59950652	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60463425	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6923919	0.90[AFR][1000 genomes]
rs73450653	1.00[AMR][1000 genomes]
rs73450685	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73450688	0.81[AFR][1000 genomes]
rs73450697	0.81[AFR][1000 genomes]
rs73452515	0.81[AFR][1000 genomes]
rs73452557	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73452572	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73452576	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7759576	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3410973	chr6:73716033-74419545	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv886158	chr6:74126084-74436825	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	179 gene(s)	inside rSNPs	diseases
3	nsv1027968	chr6:74155378-74521923	Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
4	nsv538305	chr6:74155378-74521923	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
5	nsv1017716	chr6:74173173-74401162	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
6	nsv1023250	chr6:74189642-74605976	Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	172 gene(s)	inside rSNPs	diseases
7	nsv538306	chr6:74189642-74605976	Strong transcription Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats 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	172 gene(s)	inside rSNPs	diseases
8	esv2763576	chr6:74197638-74277249	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	160 gene(s)	inside rSNPs	diseases
9	nsv5350	chr6:74221995-74267088	Active TSS Flanking Active TSS Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	159 gene(s)	inside rSNPs	diseases
10	nsv886159	chr6:74223153-74275405	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	159 gene(s)	inside rSNPs	diseases
11	nsv463153	chr6:74229258-74290291	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	141 gene(s)	inside rSNPs	diseases
12	nsv603693	chr6:74229258-74290291	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	141 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:74227800-74233800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr6:74230000-74233600	Active TSS	GM12878-XiMat	blood
3	chr6:74230000-74233800	Active TSS	HSMM	muscle
4	chr6:74230000-74233800	Active TSS	K562	blood
5	chr6:74230800-74234200	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr6:74231400-74234200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
7	chr6:74231600-74233200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr6:74231600-74233200	Flanking Active TSS	Primary B cells from cord blood	blood
9	chr6:74231600-74233200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
10	chr6:74231600-74233200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr6:74231600-74233200	Flanking Active TSS	Duodenum Mucosa	Duodenum
12	chr6:74231600-74234400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr6:74231800-74233200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr6:74231800-74233200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
15	chr6:74231800-74233200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
16	chr6:74231800-74233200	Flanking Active TSS	NHEK	skin
17	chr6:74232000-74233200	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr6:74232000-74233200	Weak transcription	Fetal Brain Male	brain
19	chr6:74232200-74233200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr6:74232200-74233200	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr6:74232200-74233200	Weak transcription	Brain Angular Gyrus	brain
22	chr6:74232200-74233200	Active TSS	Brain Hippocampus Middle	brain
23	chr6:74232200-74233600	Active TSS	Rectal Smooth Muscle	rectum
24	chr6:74232200-74233600	Active TSS	A549	lung
25	chr6:74232200-74233800	Active TSS	HUES6 Cell Line	embryonic stem cell
26	chr6:74232200-74233800	Active TSS	HSMMtube	muscle
27	chr6:74232200-74234000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr6:74232200-74234000	Active TSS	Duodenum Smooth Muscle	Duodenum
29	chr6:74232400-74233200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr6:74232400-74233200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr6:74232400-74233200	Weak transcription	NHLF	lung
32	chr6:74232400-74233800	Active TSS	iPS-15b Cell Line	embryonic stem cell
33	chr6:74232400-74233800	Active TSS	Stomach Mucosa	stomach
34	chr6:74232600-74233200	Flanking Active TSS	Primary B cells from peripheral blood	blood
35	chr6:74232600-74233200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
36	chr6:74232600-74233200	Flanking Active TSS	Fetal Thymus	thymus
37	chr6:74232600-74233600	Active TSS	iPS-20b Cell Line	embryonic stem cell
38	chr6:74232600-74233800	Flanking Active TSS	Fetal Muscle Leg	muscle
39	chr6:74232600-74234000	Flanking Active TSS	HUVEC	blood vessel
40	chr6:74232600-74234200	Flanking Active TSS	Primary hematopoietic stem cells	blood
41	chr6:74232600-74234400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr6:74232800-74233200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
43	chr6:74232800-74233200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
44	chr6:74232800-74233200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
45	chr6:74232800-74233200	Flanking Active TSS	Adipose Nuclei	Adipose
46	chr6:74232800-74233200	Flanking Active TSS	Placenta	Placenta
47	chr6:74232800-74233200	Active TSS	Left Ventricle	heart
48	chr6:74232800-74233600	Active TSS	H1 Cell Line	embryonic stem cell
49	chr6:74232800-74233600	Active TSS	Liver	Liver
50	chr6:74232800-74233600	Active TSS	Rectal Mucosa Donor 31	rectum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links