Variant report

Variant	rs4251931
Chromosome Location	chr19:44152151-44152152
allele	A/G
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	chr19:44122161..44124462-chr19:44151464..44153007,2	K562	blood:
2	chr19:44122641..44124500-chr19:44151237..44153005,2	MCF-7	breast:
3	chr19:44151521..44153572-chr19:44155815..44158132,2	MCF-7	breast:
4	chr19:44143011..44145005-chr19:44150763..44153151,2	K562	blood:
5	chr19:44145301..44148682-chr19:44150930..44154485,3	K562	blood:
6	chr19:44111077..44113188-chr19:44150049..44152529,2	K562	blood:
7	chr19:44144010..44147763-chr19:44150755..44153654,4	MCF-7	breast:
8	chr19:44145301..44149219-chr19:44149901..44154485,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000105767	Chromatin interaction
ENSG00000131116	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12609493	0.99[ASN][1000 genomes]
rs4251916	0.85[ASN][1000 genomes]
rs4251917	0.92[ASN][1000 genomes]
rs4251923	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4251925	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4251926	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4251927	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4251928	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs4251929	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4251934	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4251936	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58664350	0.94[ASN][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	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:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44144400-44153000	Weak transcription	Aorta	Aorta
2	chr19:44144600-44162200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr19:44144800-44152400	Weak transcription	Colonic Mucosa	Colon
4	chr19:44144800-44152400	Weak transcription	Dnd41	blood
5	chr19:44144800-44156000	Weak transcription	K562	blood
6	chr19:44144800-44156800	Weak transcription	Right Atrium	heart
7	chr19:44145000-44152400	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr19:44145000-44152400	Weak transcription	Gastric	stomach
9	chr19:44145000-44152400	Weak transcription	Left Ventricle	heart
10	chr19:44145000-44152400	Weak transcription	Ovary	ovary
11	chr19:44145000-44152400	Weak transcription	Right Ventricle	heart
12	chr19:44145000-44152400	Weak transcription	HMEC	breast
13	chr19:44145000-44152400	Weak transcription	NHLF	lung
14	chr19:44145000-44152600	Weak transcription	Hela-S3	cervix
15	chr19:44145000-44152800	Weak transcription	Spleen	Spleen
16	chr19:44145000-44155600	Weak transcription	Pancreas	Pancrea
17	chr19:44145000-44156000	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr19:44145000-44156000	Weak transcription	Colon Smooth Muscle	Colon
19	chr19:44145000-44156200	Weak transcription	Brain Anterior Caudate	brain
20	chr19:44145000-44156200	Weak transcription	Brain Cingulate Gyrus	brain
21	chr19:44145000-44156400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr19:44145000-44158400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr19:44145000-44167400	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr19:44145000-44168000	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr19:44145000-44171400	Weak transcription	Fetal Heart	heart
26	chr19:44145000-44171600	Weak transcription	Esophagus	oesophagus
27	chr19:44145200-44162200	Weak transcription	Brain Germinal Matrix	brain
28	chr19:44145400-44171200	Weak transcription	Fetal Brain Female	brain
29	chr19:44145800-44152400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr19:44145800-44153200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr19:44146000-44152800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr19:44146000-44156200	Weak transcription	Rectal Smooth Muscle	rectum
33	chr19:44146400-44152200	Weak transcription	Placenta	Placenta
34	chr19:44146400-44155800	Weak transcription	Brain Hippocampus Middle	brain
35	chr19:44147000-44155600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr19:44147000-44156000	Weak transcription	Brain Angular Gyrus	brain
37	chr19:44147000-44156200	Weak transcription	Stomach Mucosa	stomach
38	chr19:44147200-44152200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr19:44147600-44152600	Weak transcription	Duodenum Mucosa	Duodenum
40	chr19:44147800-44152400	Weak transcription	HUVEC	blood vessel
41	chr19:44147800-44155800	Weak transcription	Primary T cells from cord blood	blood
42	chr19:44147800-44159600	Weak transcription	HSMMtube	muscle
43	chr19:44148000-44159800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr19:44148200-44158800	Weak transcription	Small Intestine	intestine
45	chr19:44148400-44152600	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr19:44148400-44160000	Weak transcription	Fetal Thymus	thymus
47	chr19:44148600-44152400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr19:44148800-44153000	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr19:44148800-44155800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr19:44148800-44158800	Weak transcription	Thymus	Thymus

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links