Variant report

Variant	rs57308117
Chromosome Location	chr7:5732873-5732874
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:5732704..5734919-chr7:5739330..5741424,2	K562	blood:
2	chr7:5731961..5734457-chr7:5739866..5742131,3	MCF-7	breast:
3	chr7:5634314..5635852-chr7:5732306..5735253,2	MCF-7	breast:
4	chr7:5725711..5728589-chr7:5731191..5734129,5	K562	blood:
5	chr7:5732435..5735665-chr7:5735782..5737442,3	K562	blood:
6	chr7:5645477..5648196-chr7:5732391..5735372,2	K562	blood:
7	chr7:5634295..5636481-chr7:5732779..5734870,2	MCF-7	breast:
8	chr7:5632440..5634305-chr7:5731386..5734082,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000075618	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs58357556	0.87[AFR][1000 genomes]
rs58363330	1.00[AFR][1000 genomes]
rs60100761	1.00[AFR][1000 genomes]
rs60912551	0.81[AFR][1000 genomes]
rs73336204	0.88[AFR][1000 genomes]
rs73338056	1.00[AFR][1000 genomes]
rs73338057	1.00[AFR][1000 genomes]
rs73338065	1.00[AFR][1000 genomes]
rs73339924	1.00[AFR][1000 genomes]
rs73339926	0.89[AFR][1000 genomes]
rs73339928	0.89[AFR][1000 genomes]
rs73339931	1.00[AFR][1000 genomes]
rs73339935	1.00[AFR][1000 genomes]
rs73339936	1.00[AFR][1000 genomes]
rs73339944	1.00[AFR][1000 genomes]
rs73339951	1.00[AFR][1000 genomes]
rs73339962	1.00[AFR][1000 genomes]
rs73339967	1.00[AFR][1000 genomes]
rs73339969	1.00[AFR][1000 genomes]
rs73339973	0.89[AFR][1000 genomes]
rs73339992	1.00[AFR][1000 genomes]
rs73341611	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 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	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
5	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
6	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
7	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
8	nsv1033556	chr7:5565080-6186815	Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	357 gene(s)	inside rSNPs	diseases
9	nsv538710	chr7:5565080-6186815	Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	357 gene(s)	inside rSNPs	diseases
10	nsv530467	chr7:5617816-5815082	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
11	nsv1017612	chr7:5629728-5819144	Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
12	nsv1021989	chr7:5629728-6186815	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats 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	126 gene(s)	inside rSNPs	diseases
13	nsv887417	chr7:5667645-5760860	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
14	nsv887418	chr7:5675305-5772551	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
15	nsv887419	chr7:5703669-5820383	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
16	nsv1028652	chr7:5706207-5769489	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
17	nsv830891	chr7:5726301-5895460	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:5718400-5735600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr7:5720200-5741400	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr7:5723000-5740800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr7:5723400-5740600	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr7:5723400-5766400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr7:5723600-5740600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr7:5725400-5733000	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr7:5726000-5737000	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr7:5726600-5733000	Weak transcription	K562	blood
10	chr7:5727800-5733000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr7:5728400-5733400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr7:5728600-5734400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr7:5728600-5734800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr7:5728600-5736600	Enhancers	Pancreas	Pancrea
15	chr7:5728600-5738200	Enhancers	Placenta	Placenta
16	chr7:5728800-5733000	Enhancers	Primary T helper naive cells from peripheral blood	blood
17	chr7:5729000-5733000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
18	chr7:5730000-5733600	Flanking Active TSS	Stomach Smooth Muscle	stomach
19	chr7:5730000-5734800	Enhancers	Brain Cingulate Gyrus	brain
20	chr7:5730000-5740400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr7:5730200-5733800	Flanking Active TSS	Rectal Smooth Muscle	rectum
22	chr7:5730200-5734200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr7:5730200-5734400	Enhancers	Stomach Mucosa	stomach
24	chr7:5730200-5735200	Enhancers	Brain Substantia Nigra	brain
25	chr7:5730200-5735600	Enhancers	Pancreatic Islets	Pancreatic Islet
26	chr7:5730200-5736400	Flanking Active TSS	Colon Smooth Muscle	Colon
27	chr7:5730200-5736600	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr7:5730200-5738200	Enhancers	Ovary	ovary
29	chr7:5730400-5734200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr7:5730400-5735600	Enhancers	Rectal Mucosa Donor 31	rectum
31	chr7:5730400-5735800	Enhancers	Psoas Muscle	Psoas
32	chr7:5730400-5737000	Enhancers	Liver	Liver
33	chr7:5730600-5733400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr7:5730800-5733800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr7:5730800-5735000	Flanking Active TSS	Fetal Heart	heart
36	chr7:5731000-5733000	Enhancers	Fetal Kidney	kidney
37	chr7:5731000-5733400	Enhancers	Fetal Intestine Small	intestine
38	chr7:5731000-5733400	Weak transcription	Lung	lung
39	chr7:5731000-5733600	Enhancers	HepG2	liver
40	chr7:5731000-5735600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr7:5731200-5733000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr7:5731200-5734600	Enhancers	Duodenum Mucosa	Duodenum
43	chr7:5731200-5735800	Flanking Active TSS	NH-A	brain
44	chr7:5731400-5733000	Enhancers	Primary T killer memory cells from peripheral blood	blood
45	chr7:5731400-5733000	Enhancers	Skeletal Muscle Female	skeletal muscle
46	chr7:5731400-5733800	Enhancers	Brain Germinal Matrix	brain
47	chr7:5731400-5733800	Weak transcription	Dnd41	blood
48	chr7:5731400-5735600	Flanking Active TSS	GM12878-XiMat	blood
49	chr7:5731400-5740800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr7:5731600-5736800	Enhancers	Spleen	Spleen

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