Variant report

Variant	rs73343792
Chromosome Location	chr7:56147553-56147554
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:56132043..56135542-chr7:56146792..56149237,3	K562	blood:
2	chr7:56146012..56147706-chr7:56153751..56155642,2	K562	blood:
3	chr7:56131866..56134691-chr7:56145964..56148262,2	MCF-7	breast:
4	chr7:56147298..56149157-chr7:56173833..56175418,2	MCF-7	breast:
5	chr7:56140641..56145552-chr7:56146010..56150686,7	K562	blood:
6	chr7:56147040..56147639-chr7:56160305..56161215,2	MCF-7	breast:
7	chr7:56139442..56142282-chr7:56145954..56148779,2	MCF-7	breast:
8	chr7:56146186..56148845-chr7:56149332..56152482,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000164776	Chromatin interaction
ENSG00000106153	Chromatin interaction
ENSG00000129103	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs61510415	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73343749	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73343772	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73353577	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	esv2829874	chr7:55382925-56369816	Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
2	nsv995105	chr7:55606107-56174888	Active TSS ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
3	esv12412	chr7:55619800-56385412	Strong transcription Flanking Active TSS Genic enhancers Active TSS Weak transcription 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	82 gene(s)	inside rSNPs	diseases
4	nsv949574	chr7:55705566-56544711	Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
5	esv3446617	chr7:55745934-56485903	Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
6	nsv529162	chr7:55800753-56174888	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
7	esv2761334	chr7:55823581-56424739	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers 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	71 gene(s)	inside rSNPs	diseases
8	nsv1018806	chr7:55844931-56383936	Active TSS Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription 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	68 gene(s)	inside rSNPs	diseases
9	nsv538860	chr7:55844931-56383936	Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
10	nsv498114	chr7:55872850-56174888	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
11	nsv1034712	chr7:56146885-56605592	Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
12	nsv538861	chr7:56146885-56605592	Bivalent/Poised TSS Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:56134000-56152000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr7:56134000-56167800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr7:56134200-56167600	Weak transcription	Small Intestine	intestine
4	chr7:56138800-56156200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr7:56138800-56167600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr7:56140400-56152000	Strong transcription	Dnd41	blood
7	chr7:56140800-56153000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr7:56142000-56151600	Strong transcription	Thymus	Thymus
9	chr7:56142000-56168000	Weak transcription	GM12878-XiMat	blood
10	chr7:56142200-56149600	Weak transcription	Fetal Kidney	kidney
11	chr7:56142200-56167800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr7:56142400-56156400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr7:56142600-56159800	Strong transcription	Fetal Intestine Small	intestine
14	chr7:56143400-56150400	Strong transcription	Primary T helper cells fromperipheralblood	blood
15	chr7:56143800-56151000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr7:56143800-56153200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
17	chr7:56144000-56147800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr7:56144000-56148000	Strong transcription	HUES48 Cell Line	embryonic stem cell
19	chr7:56144000-56151200	Strong transcription	Primary T cells from cord blood	blood
20	chr7:56144200-56147800	Strong transcription	H9 Cell Line	embryonic stem cell
21	chr7:56144200-56147800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr7:56144200-56147800	Strong transcription	HUES6 Cell Line	embryonic stem cell
23	chr7:56144200-56147800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
24	chr7:56144200-56147800	Strong transcription	Primary monocytes fromperipheralblood	blood
25	chr7:56144200-56147800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr7:56144200-56147800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr7:56144200-56147800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr7:56144200-56147800	Strong transcription	Monocytes-CD14+_RO01746	blood
29	chr7:56144200-56148000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
30	chr7:56144200-56148800	Strong transcription	HUES64 Cell Line	embryonic stem cell
31	chr7:56144200-56149800	Strong transcription	H1 Cell Line	embryonic stem cell
32	chr7:56144200-56150000	Strong transcription	Fetal Thymus	thymus
33	chr7:56144200-56150400	Strong transcription	A549	lung
34	chr7:56144200-56150800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr7:56144200-56151800	Strong transcription	Fetal Intestine Large	intestine
36	chr7:56144200-56152000	Strong transcription	Primary T cells fromperipheralblood	blood
37	chr7:56144200-56157200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr7:56144400-56150000	Strong transcription	Primary B cells from peripheral blood	blood
39	chr7:56145200-56150000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr7:56145200-56151200	Strong transcription	Placenta	Placenta
41	chr7:56145200-56153000	Genic enhancers	Fetal Muscle Leg	muscle
42	chr7:56145400-56147600	Strong transcription	HMEC	breast
43	chr7:56145400-56147800	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr7:56145400-56147800	Strong transcription	NHEK	skin
45	chr7:56145400-56149600	Strong transcription	Spleen	Spleen
46	chr7:56145400-56150000	Strong transcription	Sigmoid Colon	Sigmoid Colon
47	chr7:56145400-56150400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr7:56145600-56147600	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr7:56145600-56147600	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr7:56145600-56147800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell

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