Variant report

Variant	rs7785031
Chromosome Location	chr7:5561608-5561609
allele	A/C
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:5532821..5537343-chr7:5561090..5568556,9	MCF-7	breast:
2	chr7:5561550..5564378-chr7:5750489..5753312,2	K562	blood:
3	chr7:5561309..5562941-chr7:5638021..5639699,2	K562	blood:
4	chr7:5396896..5399565-chr7:5560355..5562690,2	K562	blood:
5	chr7:5561140..5562775-chr7:5716624..5718720,2	MCF-7	breast:
6	chr7:5559894..5562818-chr7:5631304..5634079,2	MCF-7	breast:
7	chr5:39073762..39074370-chr7:5560756..5561665,2	Hela-S3	cervix:
8	chr7:5558806..5574463-chr7:5583405..5604290,160	MCF-7	breast:
9	chr7:5531674..5538636-chr7:5559187..5568754,14	K562	blood:
10	chr7:5537053..5538810-chr7:5560458..5562780,2	MCF-7	breast:
11	chr7:5560449..5565594-chr7:5704070..5706723,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000272719	Chromatin interaction
ENSG00000228974	Chromatin interaction
ENSG00000207973	Chromatin interaction
ENSG00000075624	Chromatin interaction
ENSG00000075618	Chromatin interaction
ENSG00000011275	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11546939	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13447414	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7803040	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869165	chr7:4889618-5799719	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	352 gene(s)	inside rSNPs	diseases
2	nsv530979	chr7:5101631-5864814	Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	350 gene(s)	inside rSNPs	diseases
3	nsv530981	chr7:5157150-5920006	Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	348 gene(s)	inside rSNPs	diseases
4	nsv887391	chr7:5224407-5572132	Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	292 gene(s)	inside rSNPs	diseases
5	esv1814049	chr7:5314993-5675131	Active TSS Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	333 gene(s)	inside rSNPs	diseases
6	esv1820266	chr7:5332088-5665173	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	332 gene(s)	inside rSNPs	diseases
7	nsv530983	chr7:5370746-6070852	Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	368 gene(s)	inside rSNPs	diseases
8	nsv887404	chr7:5402606-5667645	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	331 gene(s)	inside rSNPs	diseases
9	nsv916391	chr7:5417945-5889565	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	336 gene(s)	inside rSNPs	diseases
10	nsv887407	chr7:5432672-5605130	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	302 gene(s)	inside rSNPs	diseases
11	nsv887408	chr7:5432672-5667645	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	331 gene(s)	inside rSNPs	diseases
12	nsv526194	chr7:5452756-5592436	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	278 gene(s)	inside rSNPs	diseases
13	nsv830890	chr7:5464933-5705158	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
14	nsv533108	chr7:5488018-6316581	Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	390 gene(s)	inside rSNPs	diseases
15	nsv517558	chr7:5506499-5572132	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	260 gene(s)	inside rSNPs	diseases
16	nsv887411	chr7:5516940-5568294	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	127 gene(s)	inside rSNPs	diseases
17	nsv471304	chr7:5516940-5568366	Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	127 gene(s)	inside rSNPs	diseases
18	nsv887413	chr7:5521468-5607884	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	279 gene(s)	inside rSNPs	diseases
19	nsv530985	chr7:5536846-5570918	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	246 gene(s)	inside rSNPs	diseases
20	nsv1025434	chr7:5537571-5705283	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS 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	297 gene(s)	inside rSNPs	diseases
21	nsv482449	chr7:5557585-5743673	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	294 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:5553800-5562800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:5553800-5565400	Weak transcription	Small Intestine	intestine
3	chr7:5554000-5562800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr7:5554000-5562800	Weak transcription	Right Atrium	heart
5	chr7:5554000-5563600	Weak transcription	Gastric	stomach
6	chr7:5554000-5565000	Weak transcription	Primary T cells from cord blood	blood
7	chr7:5554000-5566000	Weak transcription	Aorta	Aorta
8	chr7:5554200-5562000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr7:5554200-5562800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr7:5554200-5562800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr7:5554200-5562800	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr7:5554200-5562800	Weak transcription	Fetal Muscle Trunk	muscle
13	chr7:5554200-5562800	Weak transcription	Thymus	Thymus
14	chr7:5554200-5562800	Weak transcription	Spleen	Spleen
15	chr7:5554200-5563000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr7:5554200-5563000	Weak transcription	Fetal Thymus	thymus
17	chr7:5554200-5563000	Weak transcription	Lung	lung
18	chr7:5554200-5563600	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr7:5554200-5563600	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr7:5554200-5563600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr7:5554200-5563800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr7:5554200-5564600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr7:5554200-5564800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr7:5554200-5564800	Weak transcription	HUVEC	blood vessel
25	chr7:5554200-5565000	Weak transcription	Colon Smooth Muscle	Colon
26	chr7:5554200-5565000	Weak transcription	Esophagus	oesophagus
27	chr7:5554200-5565000	Weak transcription	HSMM	muscle
28	chr7:5554200-5565000	Weak transcription	HSMMtube	muscle
29	chr7:5554200-5565000	Weak transcription	NHEK	skin
30	chr7:5554200-5565400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr7:5554200-5565400	Weak transcription	Left Ventricle	heart
32	chr7:5554400-5562800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr7:5554400-5562800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr7:5554400-5562800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr7:5554400-5562800	Weak transcription	Fetal Stomach	stomach
36	chr7:5554400-5563000	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr7:5554400-5563000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr7:5554400-5563000	Weak transcription	Dnd41	blood
39	chr7:5554400-5563400	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr7:5554400-5563600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr7:5554400-5563800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr7:5554400-5563800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr7:5554400-5563800	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr7:5554400-5564000	Weak transcription	Brain Cingulate Gyrus	brain
45	chr7:5554400-5564000	Weak transcription	Stomach Smooth Muscle	stomach
46	chr7:5554400-5564800	Weak transcription	Brain Angular Gyrus	brain
47	chr7:5554400-5564800	Weak transcription	Brain Hippocampus Middle	brain
48	chr7:5554400-5564800	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr7:5554400-5564800	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr7:5554400-5565000	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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