Variant report

Variant	rs4251921
Chromosome Location	chr19:44153207-44153208
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:44151521..44153572-chr19:44155815..44158132,2	MCF-7	breast:
2	chr19:44145301..44148682-chr19:44150930..44154485,3	K562	blood:
3	chr19:44144010..44147763-chr19:44150755..44153654,4	MCF-7	breast:
4	chr19:44145301..44149219-chr19:44149901..44154485,5	K562	blood:

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

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

rs_ID	r²[population]
rs10417624	1.00[CHD][hapmap]
rs11880647	1.00[YRI][hapmap]
rs2240932	1.00[CHB][hapmap]
rs2307184	1.00[MEX][hapmap]

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	nsv532821	chr19:43842383-44357315	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv833839	chr19:44099813-44272299	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44144600-44162200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr19:44144800-44156000	Weak transcription	K562	blood
3	chr19:44144800-44156800	Weak transcription	Right Atrium	heart
4	chr19:44145000-44155600	Weak transcription	Pancreas	Pancrea
5	chr19:44145000-44156000	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr19:44145000-44156000	Weak transcription	Colon Smooth Muscle	Colon
7	chr19:44145000-44156200	Weak transcription	Brain Anterior Caudate	brain
8	chr19:44145000-44156200	Weak transcription	Brain Cingulate Gyrus	brain
9	chr19:44145000-44156400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr19:44145000-44158400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr19:44145000-44167400	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr19:44145000-44168000	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr19:44145000-44171400	Weak transcription	Fetal Heart	heart
14	chr19:44145000-44171600	Weak transcription	Esophagus	oesophagus
15	chr19:44145200-44162200	Weak transcription	Brain Germinal Matrix	brain
16	chr19:44145400-44171200	Weak transcription	Fetal Brain Female	brain
17	chr19:44146000-44156200	Weak transcription	Rectal Smooth Muscle	rectum
18	chr19:44146400-44155800	Weak transcription	Brain Hippocampus Middle	brain
19	chr19:44147000-44155600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr19:44147000-44156000	Weak transcription	Brain Angular Gyrus	brain
21	chr19:44147000-44156200	Weak transcription	Stomach Mucosa	stomach
22	chr19:44147800-44155800	Weak transcription	Primary T cells from cord blood	blood
23	chr19:44147800-44159600	Weak transcription	HSMMtube	muscle
24	chr19:44148000-44159800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr19:44148200-44158800	Weak transcription	Small Intestine	intestine
26	chr19:44148400-44160000	Weak transcription	Fetal Thymus	thymus
27	chr19:44148800-44155800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr19:44148800-44158800	Weak transcription	Thymus	Thymus
29	chr19:44149200-44169400	Weak transcription	Fetal Intestine Large	intestine
30	chr19:44149600-44159000	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr19:44150000-44153400	Strong transcription	NHDF-Ad	bronchial
32	chr19:44150000-44156400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr19:44150000-44167800	Strong transcription	Primary neutrophils fromperipheralblood	blood
34	chr19:44150000-44171800	Strong transcription	Placenta Amnion	Placenta Amnion
35	chr19:44150200-44162400	Strong transcription	Primary monocytes fromperipheralblood	blood
36	chr19:44150200-44162400	Strong transcription	Monocytes-CD14+_RO01746	blood
37	chr19:44150200-44171400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr19:44150200-44171600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr19:44150400-44153400	Strong transcription	Stomach Smooth Muscle	stomach
40	chr19:44150400-44153600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr19:44150400-44153600	Strong transcription	A549	lung
42	chr19:44150400-44157600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr19:44150400-44171400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr19:44150400-44171400	Strong transcription	NH-A	brain
45	chr19:44150400-44171600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr19:44150400-44171600	Strong transcription	Osteobl	bone
47	chr19:44150600-44154400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
48	chr19:44150600-44156000	Weak transcription	Brain Substantia Nigra	brain
49	chr19:44150800-44160000	Weak transcription	Primary hematopoietic stem cells	blood
50	chr19:44151000-44156400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links