Variant report

Variant	rs7251275
Chromosome Location	chr19:44140605-44140606
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:44139192..44141813-chr19:44144492..44146172,2	MCF-7	breast:
2	chr19:44118551..44131201-chr19:44135615..44147023,20	K562	blood:
3	chr19:44121917..44126953-chr19:44140515..44144634,11	MCF-7	breast:
4	chr19:44131994..44133560-chr19:44140459..44143451,2	MCF-7	breast:
5	chr19:44137719..44140968-chr19:44143779..44146141,3	K562	blood:
6	chr19:44138850..44140610-chr19:44142090..44144067,2	MCF-7	breast:
7	chr19:44098885..44105672-chr19:44139703..44145307,6	MCF-7	breast:
8	chr19:44140278..44143480-chr19:44195245..44198704,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000124444	Chromatin interaction
ENSG00000131116	Chromatin interaction
ENSG00000226763	Chromatin interaction
ENSG00000167378	Chromatin interaction
ENSG00000105767	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10402946	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17655646	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs184239	1.00[CHB][hapmap]
rs2270075	0.98[ASN][1000 genomes]
rs2682585	0.90[CHB][hapmap]
rs2682586	1.00[CHB][hapmap]
rs2854506	1.00[CHB][hapmap]
rs2854508	1.00[CHB][hapmap]
rs2854509	1.00[CHB][hapmap]
rs304731	1.00[CHB][hapmap]
rs3213255	0.90[CHB][hapmap]
rs3213263	0.82[CHB][hapmap]
rs4803646	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs762506	1.00[CHB][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:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44124600-44143400	Weak transcription	Right Atrium	heart
2	chr19:44137400-44142600	Enhancers	Fetal Brain Male	brain
3	chr19:44138200-44140800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr19:44138200-44140800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr19:44138200-44140800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr19:44138400-44140800	Enhancers	A549	lung
7	chr19:44138600-44140800	Active TSS	Brain Substantia Nigra	brain
8	chr19:44138600-44140800	Enhancers	HMEC	breast
9	chr19:44138800-44140800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr19:44138800-44140800	Flanking Active TSS	Fetal Brain Female	brain
11	chr19:44138800-44140800	Flanking Active TSS	HepG2	liver
12	chr19:44138800-44140800	Enhancers	HSMM	muscle
13	chr19:44139000-44140800	Enhancers	Placenta Amnion	Placenta Amnion
14	chr19:44139000-44140800	Enhancers	HSMMtube	muscle
15	chr19:44139000-44142800	Weak transcription	Esophagus	oesophagus
16	chr19:44139200-44140800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
17	chr19:44139400-44140800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
18	chr19:44139600-44140800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr19:44139600-44142600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr19:44139800-44140800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr19:44139800-44140800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr19:44139800-44140800	Enhancers	Fetal Intestine Small	intestine
23	chr19:44139800-44140800	Bivalent Enhancer	Fetal Stomach	stomach
24	chr19:44139800-44141400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr19:44139800-44141800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr19:44139800-44143400	Weak transcription	Ovary	ovary
27	chr19:44140000-44140800	Enhancers	H9 Cell Line	embryonic stem cell
28	chr19:44140000-44140800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
29	chr19:44140000-44140800	Flanking Active TSS	Brain Cingulate Gyrus	brain
30	chr19:44140000-44141600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr19:44140000-44142400	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr19:44140000-44143200	Weak transcription	Right Ventricle	heart
33	chr19:44140200-44140800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
34	chr19:44140200-44140800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr19:44140200-44140800	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
36	chr19:44140200-44140800	Flanking Active TSS	Brain Angular Gyrus	brain
37	chr19:44140200-44140800	Flanking Active TSS	Brain Germinal Matrix	brain
38	chr19:44140200-44140800	Flanking Active TSS	Brain Hippocampus Middle	brain
39	chr19:44140200-44140800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
40	chr19:44140200-44141400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
41	chr19:44140400-44140800	Flanking Active TSS	H1 Cell Line	embryonic stem cell
42	chr19:44140400-44140800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr19:44140400-44140800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
44	chr19:44140400-44140800	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
45	chr19:44140400-44140800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
46	chr19:44140400-44140800	Flanking Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr19:44140400-44140800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr19:44140400-44141400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr19:44140400-44142200	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr19:44140400-44142400	Weak transcription	Pancreas	Pancrea

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links