Variant report

Variant	rs2607419
Chromosome Location	chr19:41279395-41279396
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	ZNF384	chr19:41279375-41279701	K562	blood:	n/a	n/a
2	ZNF384	chr19:41279250-41279565	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:41276921..41279823-chr19:41282678..41284570,2	MCF-7	breast:
2	chr19:41267917..41272263-chr19:41274538..41279747,5	K562	blood:
3	chr19:41274845..41278396-chr19:41279079..41284996,6	K562	blood:
4	chr19:41278372..41280147-chr19:41311044..41313711,2	MCF-7	breast:

Variant related genes	Relation type
RAB4B	TF binding region
MIA	TF binding region
RAB4B-EGLN2	TF binding region
ENSG00000261857	Chromatin interaction
ENSG00000269858	Chromatin interaction
ENSG00000171570	Chromatin interaction
ENSG00000167578	Chromatin interaction
ENSG00000077312	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs13108	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17726258	0.87[ASN][1000 genomes]
rs2230694	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2233153	0.88[ASN][1000 genomes]
rs2233154	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2233156	0.88[ASN][1000 genomes]
rs2233159	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2249854	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2279699	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2545760	0.91[ASN][1000 genomes]
rs2545777	0.99[ASN][1000 genomes]
rs2545778	0.99[ASN][1000 genomes]
rs2604876	1.00[ASN][1000 genomes]
rs2604877	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2604909	0.94[ASN][1000 genomes]
rs2604910	0.94[ASN][1000 genomes]
rs2604911	0.94[ASN][1000 genomes]
rs2607411	0.89[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs2607412	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2607413	0.92[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs2607416	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2607421	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2607422	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2607423	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2607425	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2607426	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2644917	0.88[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs34842744	0.94[ASN][1000 genomes]
rs56891752	0.99[ASN][1000 genomes]
rs60533951	0.95[ASN][1000 genomes]
rs8107978	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8109099	0.97[AFR][1000 genomes];0.99[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	esv1802033	chr19:41256131-41284240	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	40 gene(s)	inside rSNPs	diseases
2	esv1801805	chr19:41256581-41284363	Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	37 gene(s)	inside rSNPs	diseases
3	nsv833832	chr19:41260363-41334597	Strong transcription Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:41258000-41283000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr19:41260800-41283200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr19:41261800-41282800	Weak transcription	Right Atrium	heart
4	chr19:41270400-41282600	Weak transcription	Fetal Brain Male	brain
5	chr19:41271800-41279800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr19:41271800-41279800	Weak transcription	HMEC	breast
7	chr19:41271800-41282600	Weak transcription	Fetal Kidney	kidney
8	chr19:41271800-41282600	Weak transcription	HSMM	muscle
9	chr19:41271800-41283000	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr19:41272000-41279400	Weak transcription	Ovary	ovary
11	chr19:41272000-41280400	Weak transcription	NHEK	skin
12	chr19:41272000-41280600	Weak transcription	NH-A	brain
13	chr19:41272000-41281200	Weak transcription	Osteobl	bone
14	chr19:41272000-41282600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr19:41272000-41282600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr19:41272000-41282600	Weak transcription	Brain Angular Gyrus	brain
17	chr19:41272000-41282600	Weak transcription	HUVEC	blood vessel
18	chr19:41272000-41282800	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr19:41272000-41282800	Weak transcription	Psoas Muscle	Psoas
20	chr19:41272000-41282800	Weak transcription	Small Intestine	intestine
21	chr19:41272000-41282800	Weak transcription	NHDF-Ad	bronchial
22	chr19:41272200-41280800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr19:41272200-41280800	Weak transcription	Stomach Mucosa	stomach
24	chr19:41272200-41281200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr19:41272200-41281200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr19:41272200-41281200	Weak transcription	K562	blood
27	chr19:41272200-41282600	Weak transcription	Fetal Lung	lung
28	chr19:41272200-41282600	Weak transcription	Stomach Smooth Muscle	stomach
29	chr19:41272200-41282600	Weak transcription	Dnd41	blood
30	chr19:41272200-41282600	Weak transcription	HSMMtube	muscle
31	chr19:41272200-41282600	Weak transcription	NHLF	lung
32	chr19:41272200-41282800	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr19:41272200-41282800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr19:41272200-41282800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr19:41272200-41282800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr19:41272200-41282800	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr19:41272200-41282800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr19:41272200-41282800	Weak transcription	Aorta	Aorta
39	chr19:41272200-41282800	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr19:41272200-41282800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr19:41272200-41282800	Weak transcription	Brain Substantia Nigra	brain
42	chr19:41272200-41282800	Weak transcription	Esophagus	oesophagus
43	chr19:41272200-41282800	Weak transcription	Gastric	stomach
44	chr19:41272200-41282800	Weak transcription	Left Ventricle	heart
45	chr19:41272200-41282800	Weak transcription	Rectal Smooth Muscle	rectum
46	chr19:41272200-41282800	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr19:41272200-41282800	Weak transcription	Hela-S3	cervix
48	chr19:41272200-41283000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr19:41272400-41281000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr19:41272400-41282600	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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