Variant report

Variant	rs2014952
Chromosome Location	chr19:38767565-38767566
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:38767240..38769774-chr19:38804248..38806367,2	K562	blood:
2	chr19:38767203..38770280-chr19:38808576..38810969,4	MCF-7	breast:
3	chr19:38765937..38769216-chr19:38788492..38791727,3	MCF-7	breast:
4	chr19:38765291..38770264-chr19:38793708..38796948,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000099337	Chromatin interaction
ENSG00000167644	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10426091	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60026344	1.00[EUR][1000 genomes]
rs73627694	1.00[EUR][1000 genomes]
rs73630135	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063471	chr19:38734744-39148392	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	73 gene(s)	inside rSNPs	diseases
2	nsv833822	chr19:38760748-38945105	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38756600-38772600	Weak transcription	Primary T cells from cord blood	blood
2	chr19:38756600-38772600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr19:38756800-38772600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr19:38756800-38774800	Weak transcription	Primary B cells from peripheral blood	blood
5	chr19:38756800-38775000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr19:38756800-38778600	Weak transcription	Thymus	Thymus
7	chr19:38756800-38779600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr19:38758000-38770800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr19:38758000-38770800	Weak transcription	Primary B cells from cord blood	blood
10	chr19:38758000-38774200	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr19:38758200-38770800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr19:38758400-38774400	Weak transcription	Primary hematopoietic stem cells	blood
13	chr19:38758800-38770600	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr19:38759000-38768000	Weak transcription	Esophagus	oesophagus
15	chr19:38759000-38770800	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr19:38759400-38770800	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr19:38759600-38783200	Weak transcription	Fetal Brain Male	brain
18	chr19:38759800-38768200	Weak transcription	Fetal Kidney	kidney
19	chr19:38761200-38769000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr19:38761400-38770600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr19:38761600-38767800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr19:38761600-38767800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr19:38761600-38767800	Weak transcription	HSMM	muscle
24	chr19:38761600-38767800	Weak transcription	HSMMtube	muscle
25	chr19:38761600-38768200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr19:38761600-38768800	Weak transcription	Fetal Thymus	thymus
27	chr19:38761600-38769000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr19:38761600-38770800	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr19:38761600-38770800	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr19:38761600-38773000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr19:38761800-38767600	Weak transcription	Osteobl	bone
32	chr19:38761800-38767800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr19:38761800-38768400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr19:38761800-38770800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr19:38764200-38768600	Weak transcription	Fetal Stomach	stomach
36	chr19:38764400-38767800	Weak transcription	Spleen	Spleen
37	chr19:38764400-38771200	Weak transcription	Liver	Liver
38	chr19:38764600-38768200	Weak transcription	HepG2	liver
39	chr19:38764800-38768800	Enhancers	Fetal Heart	heart
40	chr19:38765200-38767800	Enhancers	Fetal Lung	lung
41	chr19:38765200-38769600	Enhancers	Adipose Nuclei	Adipose
42	chr19:38765400-38768000	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr19:38765400-38768200	Weak transcription	Rectal Smooth Muscle	rectum
44	chr19:38765400-38768800	Weak transcription	Gastric	stomach
45	chr19:38765600-38767600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr19:38765600-38768000	Weak transcription	Duodenum Mucosa	Duodenum
47	chr19:38765600-38768000	Weak transcription	Fetal Intestine Large	intestine
48	chr19:38765600-38768000	Weak transcription	Stomach Mucosa	stomach
49	chr19:38765600-38768400	Weak transcription	K562	blood
50	chr19:38765600-38770800	Weak transcription	Fetal Muscle Trunk	muscle

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