Variant report

Variant	rs34326918
Chromosome Location	chr19:39650541-39650542
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:39649335..39651223-chr19:39816830..39818600,2	MCF-7	breast:
2	chr19:39643758..39646287-chr19:39649616..39652008,3	K562	blood:
3	chr19:39649401..39653814-chr19:39654605..39660099,7	K562	blood:
4	chr19:39615259..39630637-chr19:39640467..39653924,38	MCF-7	breast:

Variant related genes	Relation type
ENSG00000130669	Chromatin interaction
ENSG00000269172	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1079442	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11083509	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11083510	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12610624	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12611361	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12611365	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12611376	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12984418	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17722300	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17795295	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2873913	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34058542	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34110379	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34270590	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34808880	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34846983	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35163943	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35591784	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36148214	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3889485	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55748546	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61171111	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs67248178	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs71356838	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs71356839	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs71356840	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs71356841	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs737450	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs8107629	0.92[AMR][1000 genomes];0.93[EUR][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	nsv833829	chr19:39569681-39730777	Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv432048	chr19:39572060-39850060	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	esv3403825	chr19:39646612-39650810	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:39617400-39659800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
2	chr19:39630800-39651000	Weak transcription	NHDF-Ad	bronchial
3	chr19:39631000-39660000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr19:39636000-39668200	Weak transcription	Primary B cells from cord blood	blood
5	chr19:39636400-39665600	Weak transcription	Aorta	Aorta
6	chr19:39636800-39650800	Weak transcription	HUVEC	blood vessel
7	chr19:39637000-39653600	Weak transcription	Brain Germinal Matrix	brain
8	chr19:39637400-39660800	Weak transcription	Primary hematopoietic stem cells	blood
9	chr19:39638000-39661400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr19:39640000-39672600	Weak transcription	GM12878-XiMat	blood
11	chr19:39640200-39660000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr19:39644200-39652200	Enhancers	Placenta Amnion	Placenta Amnion
13	chr19:39644400-39651800	Genic enhancers	Fetal Intestine Small	intestine
14	chr19:39644600-39652200	Enhancers	Stomach Mucosa	stomach
15	chr19:39644800-39652400	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr19:39645200-39659000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr19:39645400-39654600	Enhancers	Ovary	ovary
18	chr19:39645800-39658000	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr19:39646600-39652200	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr19:39646600-39653200	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr19:39646600-39659000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr19:39646800-39659200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr19:39646800-39660600	Weak transcription	Dnd41	blood
24	chr19:39647200-39660400	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr19:39647400-39651800	Genic enhancers	Spleen	Spleen
26	chr19:39647600-39653400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr19:39647600-39653400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr19:39647600-39660600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr19:39647600-39664800	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr19:39647800-39650800	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr19:39647800-39651000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr19:39647800-39653400	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr19:39647800-39653600	Weak transcription	Fetal Thymus	thymus
34	chr19:39647800-39670400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr19:39648000-39650600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr19:39648200-39651000	Weak transcription	HSMMtube	muscle
37	chr19:39648200-39651200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr19:39648600-39650600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr19:39648600-39650600	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr19:39648600-39652600	Genic enhancers	Fetal Stomach	stomach
41	chr19:39648800-39650800	Weak transcription	NHLF	lung
42	chr19:39648800-39651600	Weak transcription	Brain Cingulate Gyrus	brain
43	chr19:39648800-39653600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr19:39648800-39653600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr19:39649000-39650600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr19:39649000-39650600	Weak transcription	Rectal Smooth Muscle	rectum
47	chr19:39649000-39650600	Weak transcription	Osteobl	bone
48	chr19:39649000-39650800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr19:39649000-39650800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr19:39649000-39650800	Weak transcription	Adipose Nuclei	Adipose

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