Variant report

Variant	rs73405666
Chromosome Location	chr6:34430626-34430627
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	JUND	chr6:34430467-34430667	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr6:34430135-34430628	HCT-116	colon:	n/a	n/a
3	TCF7L2	chr6:34430302-34430791	HCT-116	colon:	n/a	chr6:34430630-34430639 chr6:34430627-34430643
4	TCF7L2	chr6:34430441-34430742	Hela-S3	cervix:	n/a	chr6:34430630-34430639 chr6:34430627-34430643
5	NR3C1	chr6:34430315-34430720	A549	lung:	n/a	chr6:34430469-34430485 chr6:34430361-34430374 chr6:34430470-34430484 chr6:34430453-34430466 chr6:34430474-34430487
6	KAP1	chr6:34430283-34430785	U2OS	brain:	n/a	n/a
7	ZNF263	chr6:34430182-34430755	K562	blood:	n/a	chr6:34430357-34430366
8	ZNF263	chr6:34430057-34430835	HEK293-T-REx	kidney:	n/a	chr6:34430357-34430366
9	TCF7L2	chr6:34430381-34430826	HEK293	kidney:	n/a	chr6:34430630-34430639 chr6:34430627-34430643
10	NR3C1	chr6:34430209-34430626	A549	lung:	n/a	chr6:34430469-34430485 chr6:34430361-34430374 chr6:34430470-34430484 chr6:34430453-34430466 chr6:34430474-34430487
11	NR3C1	chr6:34430302-34430671	A549	lung:	n/a	chr6:34430469-34430485 chr6:34430361-34430374 chr6:34430470-34430484 chr6:34430453-34430466 chr6:34430474-34430487
12	POLR2A	chr6:34430219-34430680	HCT-116	colon:	n/a	n/a
13	KAP1	chr6:34430286-34430783	HEK293	kidney:	n/a	n/a
14	SIN3A	chr6:34430437-34430627	H1-hESC	embryonic stem cell:	n/a	n/a
15	SMC3	chr6:34430372-34430636	Hela-S3	cervix:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:34430625-34430675	NB4	blood:	n/a
2	chr6:34430625-34430675	MCF10A-Er-Src	breast:	n/a
3	chr6:34430625-34430675	Caco-2	colon:	n/a
4	chr6:34430625-34430675	AG04450	lung:	fetal
5	chr6:34430625-34430675	HMEC	breast:	n/a
6	chr6:34430625-34430675	SK-N-SH_RA	brain:	n/a
7	chr6:34430625-34430675	GM12878	blood:	n/a
8	chr6:34430625-34430675	AG09319	gingival:	n/a
9	chr6:34430625-34430675	T-47D	breast:	n/a
10	chr6:34430625-34430675	AoSMC	blood vessel:	n/a
11	chr6:34430625-34430675	Hela-S3	cervix:	n/a
12	chr6:34430625-34430675	HL-60	blood:	n/a
13	chr6:34430625-34430675	HCM	heart:	n/a
14	chr6:34430625-34430675	GM06990	blood:	n/a
15	chr6:34430625-34430675	Jurkat	blood:	n/a
16	chr6:34430625-34430675	HRCEpiC	kidney:	n/a
17	chr6:34430625-34430675	HRPEpiC	eye:	n/a
18	chr6:34430625-34430675	HCPEpiC	choroid plexus:	n/a
19	chr6:34430625-34430675	SK-N-SH	brain:	n/a
20	chr6:34430625-34430675	HepG2	liver:	n/a
21	chr6:34430625-34430675	SKMC	muscle:	n/a
22	chr6:34430625-34430675	K562	blood:	n/a
23	chr6:34430625-34430675	SK-N-MC	brain:	n/a
24	chr6:34430625-34430675	PrEC	prostate:	n/a
25	chr6:34430625-34430675	HUVEC	blood vessel:	n/a
26	chr6:34430625-34430675	IMR90	lung:	fetal
27	chr6:34430625-34430675	AG04449	skin:	fetal
28	chr6:34430625-34430675	AG09309	skin:	n/a
29	chr6:34430625-34430675	RPTEC	kidney:	n/a
30	chr6:34430625-34430675	NHDF-neo	bronchial:	n/a
31	chr6:34430625-34430675	HEEpiC	esophagus:	n/a
32	chr6:34430625-34430675	HIPEpiC	eye:	n/a
33	chr6:34430625-34430675	PANC-1	pancreas:	n/a
34	chr6:34430625-34430675	HPAEpiC	pulmonary alveolar:	n/a
35	chr6:34430625-34430675	HCT-116	colon:	n/a
36	chr6:34430625-34430675	BJ	skin:	n/a
37	chr6:34430625-34430675	GM12891	blood:	n/a
38	chr6:34430625-34430675	H1-hESC	embryonic stem cell:	embryo
39	chr6:34430625-34430675	NHBE	bronchial:	n/a
40	chr6:34430625-34430675	MCF-7	breast:	n/a
41	chr6:34430625-34430675	HRE	kidney:	n/a
42	chr6:34430625-34430675	HNPCEpiC	eye:	n/a
43	chr6:34430625-34430675	AG10803	skin:	n/a
44	chr6:34430625-34430675	ECC-1	luminal epithelium:	n/a
45	chr6:34430625-34430675	Hepatocyte	liver:	n/a
46	chr6:34430625-34430675	A549	lung:	n/a
47	chr6:34430625-34430675	HCF	heart:	n/a
48	chr6:34430625-34430675	NH-A	brain:	n/a
49	chr6:34430625-34430675	LNCaP	prostate:	n/a
50	chr6:34430625-34430675	HEK293	kidney:	embryo

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:34430319..34432535-chr6:34490428..34492193,2	MCF-7	breast:
2	chr6:34430065..34432112-chr6:34462905..34465390,2	MCF-7	breast:

Variant related genes	Relation type
PACSIN1	TF binding region
PACSIN1	CpG island

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs2233646	1.00[EUR][1000 genomes]
rs9461995	1.00[EUR][1000 genomes]
rs9469785	1.00[EUR][1000 genomes]
rs9469809	1.00[EUR][1000 genomes]
rs9469821	1.00[EUR][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	nsv1022844	chr6:34317219-35060519	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv538195	chr6:34317219-35060519	Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	esv2758046	chr6:34382492-34714677	Genic enhancers Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	esv2759418	chr6:34382492-34714677	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
5	nsv885785	chr6:34404636-34874002	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
6	nsv462904	chr6:34416388-34493012	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
7	nsv602903	chr6:34416388-34493012	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
8	nsv885786	chr6:34426884-34542662	Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34394400-34433200	Weak transcription	Right Atrium	heart
2	chr6:34428000-34432200	Enhancers	H1 Cell Line	embryonic stem cell
3	chr6:34428800-34433200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr6:34429000-34430800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr6:34429200-34431600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr6:34430000-34430800	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr6:34430000-34430800	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr6:34430000-34430800	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr6:34430000-34430800	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr6:34430200-34430800	Enhancers	Fetal Heart	heart
11	chr6:34430400-34430800	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr6:34430400-34430800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
13	chr6:34430400-34430800	Enhancers	Stomach Mucosa	stomach
14	chr6:34430600-34430800	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr6:34430600-34430800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr6:34430600-34430800	Active TSS	A549	lung
17	chr6:34430600-34430800	Enhancers	HepG2	liver
18	chr6:34430600-34431800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr6:34430600-34432000	Enhancers	K562	blood
20	chr6:34430600-34433000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr6:34430600-34433000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr6:34430600-34433000	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr6:34430600-34433000	Weak transcription	Pancreas	Pancrea
24	chr6:34430600-34433200	Weak transcription	Esophagus	oesophagus

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