Variant report

Variant	rs560940204
Chromosome Location	chr7:105018462-105018463
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:105016302..105018652-chr7:105027482..105029964,4	K562	blood:
2	chr7:105009408..105012962-chr7:105018316..105021525,4	K562	blood:
3	chr7:104652684..104654686-chr7:105018290..105019897,2	K562	blood:
4	chr7:105012623..105015003-chr7:105017126..105018970,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000005483	Chromatin interaction
ENSG00000135250	Chromatin interaction
ENSG00000239569	Chromatin interaction
ENSG00000228393	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34588	chr7:104737612-105153242	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS 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 target site	17 gene(s)	inside rSNPs	diseases
2	esv2757233	chr7:104758250-105208492	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	esv2759549	chr7:104758250-105208492	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv8196	chr7:104763559-105155978	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	esv34580	chr7:104763580-105153242	Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	esv2758127	chr7:104766707-105110581	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv1028228	chr7:104807207-105182998	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
8	nsv932138	chr7:104826194-105152816	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
9	nsv1015688	chr7:104849770-105182998	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
10	nsv1029832	chr7:104905057-105112489	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
11	nsv1023767	chr7:104931143-105190662	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
12	nsv539049	chr7:104931143-105190662	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
13	nsv1034689	chr7:104950564-105085879	Bivalent/Poised TSS Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
14	nsv1022065	chr7:104997315-105190662	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
15	nsv888929	chr7:105012975-105163091	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
16	nsv888930	chr7:105012975-105170476	Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
17	nsv888931	chr7:105012975-105173974	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
18	nsv888932	chr7:105012975-105179756	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
19	nsv888933	chr7:105012975-105193051	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
20	nsv888934	chr7:105016900-105056010	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
21	esv3436858	chr7:105017550-105044209	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
22	nsv1018975	chr7:105018374-105153618	Enhancers Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
23	nsv539050	chr7:105018374-105153618	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:104995200-105028200	Weak transcription	Esophagus	oesophagus
2	chr7:104995400-105028000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr7:104995600-105027200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr7:104995800-105027200	Weak transcription	Primary T cells from cord blood	blood
5	chr7:104997400-105026800	Weak transcription	Primary B cells from cord blood	blood
6	chr7:105000000-105021800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr7:105000000-105028200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr7:105000200-105025800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr7:105003200-105027600	Weak transcription	Fetal Intestine Small	intestine
10	chr7:105003600-105025200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr7:105005000-105021200	Weak transcription	Fetal Stomach	stomach
12	chr7:105006200-105027600	Weak transcription	Hela-S3	cervix
13	chr7:105006400-105021400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr7:105006400-105027400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr7:105008200-105028200	Weak transcription	Pancreas	Pancrea
16	chr7:105009200-105018600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr7:105009200-105027200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr7:105009200-105028000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr7:105009200-105028000	Weak transcription	Psoas Muscle	Psoas
20	chr7:105010000-105027400	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr7:105015800-105018800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
22	chr7:105016200-105025800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr7:105016200-105026200	Weak transcription	Dnd41	blood
24	chr7:105016400-105027000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr7:105016400-105027200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr7:105017400-105018600	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr7:105017400-105018600	Enhancers	H1 Cell Line	embryonic stem cell
28	chr7:105017400-105018600	Enhancers	H9 Cell Line	embryonic stem cell
29	chr7:105017400-105018600	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr7:105017400-105018600	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr7:105017400-105018600	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr7:105017400-105018600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr7:105017400-105018800	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr7:105017600-105018800	Enhancers	Gastric	stomach
35	chr7:105017600-105018800	Enhancers	Sigmoid Colon	Sigmoid Colon
36	chr7:105017600-105027200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr7:105017800-105018600	Enhancers	Primary T cells fromperipheralblood	blood
38	chr7:105017800-105018600	Enhancers	Right Atrium	heart
39	chr7:105017800-105018800	Enhancers	K562	blood
40	chr7:105017800-105022200	Weak transcription	Primary T helper cells PMA-I stimulated	--
41	chr7:105017800-105027200	Weak transcription	Primary B cells from peripheral blood	blood
42	chr7:105017800-105027400	Weak transcription	Fetal Muscle Leg	muscle
43	chr7:105017800-105027400	Weak transcription	A549	lung
44	chr7:105018000-105018600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
45	chr7:105018000-105018800	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr7:105018000-105028000	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr7:105018200-105025800	Weak transcription	Primary T helper cells fromperipheralblood	blood
48	chr7:105018200-105028000	Weak transcription	Left Ventricle	heart
49	chr7:105018400-105018600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr7:105018400-105018600	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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