Variant report

Variant	rs57385695
Chromosome Location	chr7:137619090-137619091
allele	C/T
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	RCOR1	chr7:137618557-137619090	K562	blood:	n/a	n/a
2	KAP1	chr7:137617572-137619548	HEK293	kidney:	n/a	n/a
3	IRF1	chr7:137618870-137620870	K562	blood:	n/a	chr7:137620102-137620116 chr7:137620105-137620118 chr7:137620106-137620116 chr7:137619175-137619185 chr7:137620105-137620116 chr7:137620106-137620120 chr7:137620105-137620118 chr7:137620105-137620118 chr7:137620636-137620648 chr7:137620104-137620115 chr7:137619173-137619186 chr7:137620100-137620117 chr7:137619175-137619186
4	MAFK	chr7:137618060-137619146	K562	blood:	n/a	chr7:137618517-137618527
5	IRF1	chr7:137618919-137620986	K562	blood:	n/a	chr7:137620102-137620116 chr7:137620105-137620118 chr7:137620106-137620116 chr7:137619175-137619185 chr7:137620105-137620116 chr7:137620106-137620120 chr7:137620105-137620118 chr7:137620105-137620118 chr7:137620636-137620648 chr7:137620104-137620115 chr7:137619173-137619186 chr7:137620100-137620117 chr7:137619175-137619186
6	POLR2A	chr7:137617304-137621222	K562	blood:	n/a	n/a
7	MYC	chr7:137618950-137619620	K562	blood:	n/a	chr7:137619391-137619401

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:137619037..137621217-chr7:137637185..137638746,2	MCF-7	breast:

Variant related genes	Relation type
CREB3L2	TF binding region
ENSG00000237243	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10242255	0.84[ASN][1000 genomes]
rs10272604	0.84[ASN][1000 genomes]
rs11763953	1.00[EUR][1000 genomes]
rs17169449	0.95[EUR][1000 genomes]
rs28663485	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60078042	0.84[ASN][1000 genomes]
rs73456340	1.00[ASN][1000 genomes]
rs73456347	1.00[ASN][1000 genomes]
rs73456358	0.84[ASN][1000 genomes]
rs7808800	0.84[ASN][1000 genomes]
rs9986783	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022793	chr7:137187383-137619359	Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv831150	chr7:137500559-137652808	Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv518070	chr7:137534627-137808839	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 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	chr7:137588800-137620200	Weak transcription	Dnd41	blood
2	chr7:137611400-137620600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:137612000-137620800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr7:137612800-137620400	Weak transcription	Fetal Lung	lung
5	chr7:137613000-137619200	Weak transcription	Thymus	Thymus
6	chr7:137613000-137621000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr7:137613200-137621000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr7:137613400-137620200	Enhancers	Placenta	Placenta
9	chr7:137613600-137620800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr7:137614200-137620800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr7:137614800-137621000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr7:137615000-137619800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr7:137615000-137619800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr7:137615000-137622200	Enhancers	HUVEC	blood vessel
15	chr7:137615400-137619200	Enhancers	NH-A	brain
16	chr7:137615400-137619400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr7:137615600-137635600	Weak transcription	Hela-S3	cervix
18	chr7:137616200-137622200	Enhancers	Fetal Intestine Large	intestine
19	chr7:137616800-137619400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr7:137617000-137619600	Enhancers	Placenta Amnion	Placenta Amnion
21	chr7:137617000-137620600	Enhancers	Pancreatic Islets	Pancreatic Islet
22	chr7:137617000-137622200	Enhancers	Small Intestine	intestine
23	chr7:137617000-137622400	Enhancers	Colon Smooth Muscle	Colon
24	chr7:137617200-137619200	Enhancers	Primary T cells fromperipheralblood	blood
25	chr7:137617200-137619200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr7:137617200-137619200	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr7:137617200-137619200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
28	chr7:137617200-137619200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
29	chr7:137617200-137619400	Enhancers	Left Ventricle	heart
30	chr7:137617200-137619400	Enhancers	Pancreas	Pancrea
31	chr7:137617200-137619400	Enhancers	Rectal Smooth Muscle	rectum
32	chr7:137617200-137619600	Enhancers	Primary neutrophils fromperipheralblood	blood
33	chr7:137617200-137619600	Enhancers	Gastric	stomach
34	chr7:137617200-137619600	Enhancers	Psoas Muscle	Psoas
35	chr7:137617200-137619800	Enhancers	Primary monocytes fromperipheralblood	blood
36	chr7:137617200-137619800	Enhancers	Right Atrium	heart
37	chr7:137617200-137620000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
38	chr7:137617200-137620000	Enhancers	NHEK	skin
39	chr7:137617200-137620200	Enhancers	Aorta	Aorta
40	chr7:137617200-137622200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr7:137617200-137627400	Enhancers	Breast Myoepithelial Primary Cells	Breast
42	chr7:137617400-137619200	Enhancers	Rectal Mucosa Donor 29	rectum
43	chr7:137617400-137619400	Enhancers	Primary hematopoietic stem cells	blood
44	chr7:137617400-137619400	Enhancers	Primary T helper cells fromperipheralblood	blood
45	chr7:137617400-137619400	Enhancers	Ovary	ovary
46	chr7:137617400-137619400	Enhancers	Rectal Mucosa Donor 31	rectum
47	chr7:137617400-137619600	Enhancers	Right Ventricle	heart
48	chr7:137617400-137619800	Enhancers	Primary B cells from peripheral blood	blood
49	chr7:137617400-137619800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
50	chr7:137617400-137622200	Enhancers	Fetal Heart	heart

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