Variant report

Variant	rs7751952
Chromosome Location	chr6:30843557-30843558
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:45)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:45 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TBP	chr6:30843057-30843676	K562	blood:	n/a	n/a
2	MAX	chr6:30843068-30843598	K562	blood:	n/a	n/a
3	IRF1	chr6:30843014-30844793	K562	blood:	n/a	n/a
4	CUX1	chr6:30843147-30843659	K562	blood:	n/a	n/a
5	POLR2A	chr6:30843093-30843707	K562	blood:	n/a	n/a
6	MAZ	chr6:30843166-30843610	K562	blood:	n/a	n/a
7	POLR2A	chr6:30843101-30844719	K562	blood:	n/a	n/a
8	CBX3	chr6:30842972-30843770	K562	blood:	n/a	n/a
9	HEY1	chr6:30843171-30843765	K562	blood:	n/a	n/a
10	MYC	chr6:30843025-30843598	K562	blood:	n/a	n/a
11	POLR2A	chr6:30843217-30844720	K562	blood:	n/a	n/a
12	TAL1	chr6:30843129-30844784	K562	blood:	n/a	n/a
13	IRF1	chr6:30843060-30844785	K562	blood:	n/a	n/a
14	ZC3H11A	chr6:30843044-30843656	K562	blood:	n/a	n/a
15	TBL1XR1	chr6:30843268-30843665	K562	blood:	n/a	n/a
16	JUND	chr6:30843033-30843605	K562	blood:	n/a	n/a
17	JUN	chr6:30843186-30844762	K562	blood:	n/a	chr6:30844009-30844016 chr6:30844009-30844017 chr6:30844008-30844018
18	ZMIZ1	chr6:30843108-30844719	K562	blood:	n/a	n/a
19	YY1	chr6:30843456-30843648	K562	blood:	n/a	n/a
20	POLR2A	chr6:30843207-30843725	K562	blood:	n/a	n/a
21	POLR2A	chr6:30843231-30844665	K562	blood:	n/a	n/a
22	NR2F2	chr6:30843170-30843777	K562	blood:	n/a	n/a
23	GTF2F1	chr6:30843047-30843620	K562	blood:	n/a	n/a
24	POLR2A	chr6:30843222-30843674	K562	blood:	n/a	n/a
25	TBL1XR1	chr6:30842971-30844869	K562	blood:	n/a	n/a
26	HCFC1	chr6:30843196-30843606	K562	blood:	n/a	n/a
27	POLR2A	chr6:30843151-30844790	K562	blood:	n/a	n/a
28	TEAD4	chr6:30842863-30843692	K562	blood:	n/a	n/a
29	RCOR1	chr6:30843025-30843593	K562	blood:	n/a	n/a
30	EP300	chr6:30843154-30843710	GM12878	blood:	n/a	n/a
31	NR2F2	chr6:30842950-30846013	K562	blood:	n/a	n/a
32	UBTF	chr6:30843000-30843587	K562	blood:	n/a	n/a
33	ARID3A	chr6:30843076-30844798	K562	blood:	n/a	n/a
34	EP300	chr6:30843024-30843627	K562	blood:	n/a	n/a
35	HEY1	chr6:30843189-30843752	K562	blood:	n/a	n/a
36	UBTF	chr6:30843393-30843675	K562	blood:	n/a	n/a
37	POLR2A	chr6:30843144-30844789	K562	blood:	n/a	n/a
38	NFYA	chr6:30843208-30843642	K562	blood:	n/a	n/a
39	GTF2B	chr6:30843195-30843593	K562	blood:	n/a	n/a
40	POLR2A	chr6:30843165-30844767	K562	blood:	n/a	n/a
41	TEAD4	chr6:30842765-30844869	K562	blood:	n/a	n/a
42	ELK1	chr6:30843329-30843578	K562	blood:	n/a	n/a
43	PML	chr6:30843026-30843777	K562	blood:	n/a	n/a
44	POLR2A	chr6:30843094-30843705	K562	blood:	n/a	n/a
45	POLR2A	chr6:30843212-30844729	K562	blood:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:30709189..30710884-chr6:30841822..30843594,2	MCF-7	breast:
2	chr6:30831759..30834658-chr6:30842152..30844825,3	K562	blood:
3	chr6:30794216..30799803-chr6:30838849..30846731,16	K562	blood:
4	chr6:30707945..30712505-chr6:30840794..30847673,9	K562	blood:
5	chr6:30748393..30749996-chr6:30841265..30843895,2	K562	blood:
6	chr6:30843383..30845810-chr6:30880379..30882936,3	K562	blood:
7	chr6:30704403..30722478-chr6:30842859..30858629,100	MCF-7	breast:
8	chr6:30843411..30845774-chr6:30879579..30881795,2	MCF-7	breast:
9	chr6:30780598..30803497-chr6:30842531..30855110,80	MCF-7	breast:
10	chr6:30683784..30686577-chr6:30843156..30844763,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SFTA2-10	chr6:30842554-30843695	ENSG00000237775.1

No data

Variant related genes	Relation type
DDR1	TF binding region
ENSG00000228022	Chromatin interaction
ENSG00000213780	Chromatin interaction
ENSG00000137337	Chromatin interaction
ENSG00000137331	Chromatin interaction
ENSG00000202241	Chromatin interaction
ENSG00000137312	Chromatin interaction
ENSG00000137411	Chromatin interaction
ENSG00000272273	Chromatin interaction
ENSG00000214894	Chromatin interaction
ENSG00000263608	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11757306	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11757361	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11758183	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1264350	0.86[ASN][1000 genomes]
rs17196081	0.84[AFR][1000 genomes]
rs28744105	0.86[ASN][1000 genomes]
rs55745908	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57065637	0.86[ASN][1000 genomes]
rs57817411	0.86[ASN][1000 genomes]
rs58554612	0.86[ASN][1000 genomes]
rs58594197	0.86[ASN][1000 genomes]
rs6457281	0.80[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6930910	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73425726	0.86[ASN][1000 genomes]
rs73432796	0.86[ASN][1000 genomes]
rs73432800	0.86[ASN][1000 genomes]
rs73434604	0.86[ASN][1000 genomes]
rs73434608	0.86[ASN][1000 genomes]
rs73437885	0.86[ASN][1000 genomes]
rs73727119	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73727120	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73727123	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7746003	1.00[ASN][1000 genomes]
rs7759803	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3519970	chr6:30382942-31378788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
2	esv3519971	chr6:30382942-31378788	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
3	nsv601481	chr6:30422632-31284253	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1012 gene(s)	inside rSNPs	diseases
4	nsv1015372	chr6:30704734-31582152	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	334 gene(s)	inside rSNPs	diseases
5	nsv538173	chr6:30704734-31582152	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	334 gene(s)	inside rSNPs	diseases
6	nsv884109	chr6:30824532-30872203	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30838800-30845000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr6:30838800-30845200	Weak transcription	Right Atrium	heart
3	chr6:30839800-30845000	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr6:30840000-30845000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr6:30840800-30844800	Weak transcription	Thymus	Thymus
6	chr6:30842400-30844600	Flanking Active TSS	K562	blood
7	chr6:30842400-30846000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr6:30842600-30845400	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr6:30842800-30845200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr6:30843000-30844000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr6:30843000-30845000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr6:30843000-30845200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr6:30843000-30846000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr6:30843200-30844200	Enhancers	Brain Angular Gyrus	brain
15	chr6:30843200-30844200	Enhancers	Brain Inferior Temporal Lobe	brain
16	chr6:30843200-30844600	Enhancers	Brain Hippocampus Middle	brain
17	chr6:30843200-30845200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr6:30843200-30845200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr6:30843200-30845200	Enhancers	GM12878-XiMat	blood
20	chr6:30843200-30846000	Enhancers	HMEC	breast
21	chr6:30843200-30846800	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr6:30843400-30843600	Enhancers	H1 Cell Line	embryonic stem cell
23	chr6:30843400-30843600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr6:30843400-30843600	Enhancers	Fetal Muscle Trunk	muscle
25	chr6:30843400-30843600	Enhancers	Fetal Stomach	stomach
26	chr6:30843400-30843600	Enhancers	Pancreas	Pancrea
27	chr6:30843400-30843600	Enhancers	Small Intestine	intestine
28	chr6:30843400-30843800	Enhancers	Duodenum Smooth Muscle	Duodenum
29	chr6:30843400-30843800	Flanking Active TSS	Stomach Smooth Muscle	stomach
30	chr6:30843400-30843800	Flanking Active TSS	NHEK	skin
31	chr6:30843400-30844000	Weak transcription	Spleen	Spleen
32	chr6:30843400-30844200	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr6:30843400-30844600	Enhancers	Brain Anterior Caudate	brain
34	chr6:30843400-30844600	Enhancers	Fetal Lung	lung
35	chr6:30843400-30844600	Enhancers	Osteobl	bone
36	chr6:30843400-30845200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr6:30843400-30845200	Enhancers	Muscle Satellite Cultured Cells	--
38	chr6:30843400-30845200	Enhancers	Brain Substantia Nigra	brain
39	chr6:30843400-30845200	Enhancers	Colon Smooth Muscle	Colon
40	chr6:30843400-30845200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr6:30843400-30845200	Enhancers	Rectal Smooth Muscle	rectum
42	chr6:30843400-30845200	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr6:30843400-30845200	Enhancers	HSMMtube	muscle
44	chr6:30843400-30845200	Enhancers	HUVEC	blood vessel
45	chr6:30843400-30846000	Enhancers	Placenta	Placenta

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