Variant report

Variant	rs3803910
Chromosome Location	chr19:44129616-44129617
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:44097500..44104541-chr19:44116930..44130620,31	K562	blood:
2	chr19:44097777..44104240-chr19:44121602..44130880,30	K562	blood:
3	chr19:44118551..44131201-chr19:44135615..44147023,20	K562	blood:
4	chr19:44128150..44129685-chr19:44154688..44156767,2	K562	blood:
5	chr19:44034271..44036948-chr19:44127770..44129771,2	K562	blood:
6	chr19:44064615..44065157-chr19:44128794..44129736,2	K562	blood:

Variant related genes	Relation type
ENSG00000073050	Chromatin interaction
ENSG00000167378	Chromatin interaction
ENSG00000124444	Chromatin interaction
ENSG00000226763	Chromatin interaction
ENSG00000105767	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10402946	0.84[AFR][1000 genomes]
rs2240633	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2270075	0.93[AFR][1000 genomes]
rs304719	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs304720	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs304722	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs304723	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs304726	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34521657	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34637472	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35346236	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs365063	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs427115	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4803647	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7245651	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8101956	0.97[AMR][1000 genomes];0.99[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	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:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44124600-44130200	Weak transcription	Esophagus	oesophagus
2	chr19:44124600-44143400	Weak transcription	Right Atrium	heart
3	chr19:44124800-44129800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr19:44124800-44131200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr19:44124800-44138400	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr19:44124800-44138800	Weak transcription	Rectal Smooth Muscle	rectum
7	chr19:44124800-44139000	Weak transcription	Colon Smooth Muscle	Colon
8	chr19:44125000-44130400	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr19:44125000-44130400	Weak transcription	Gastric	stomach
10	chr19:44125000-44130400	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr19:44125000-44130800	Weak transcription	Stomach Smooth Muscle	stomach
12	chr19:44125000-44131000	Weak transcription	Fetal Muscle Leg	muscle
13	chr19:44125000-44139200	Weak transcription	Pancreas	Pancrea
14	chr19:44125200-44130200	Weak transcription	Right Ventricle	heart
15	chr19:44125200-44130200	Weak transcription	Spleen	Spleen
16	chr19:44125200-44130400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr19:44125200-44133000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr19:44125200-44137400	Weak transcription	HepG2	liver
19	chr19:44125600-44133200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr19:44125800-44132000	Strong transcription	Fetal Brain Female	brain
21	chr19:44125800-44135400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr19:44126000-44133400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr19:44126200-44131600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr19:44126600-44132000	Strong transcription	Cortex derived primary cultured neurospheres	brain
25	chr19:44126600-44134000	Strong transcription	Brain Germinal Matrix	brain
26	chr19:44126800-44131800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr19:44127000-44131400	Strong transcription	Fetal Stomach	stomach
28	chr19:44127200-44130000	Strong transcription	Brain Inferior Temporal Lobe	brain
29	chr19:44127200-44130200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr19:44127200-44130200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr19:44127200-44131400	Strong transcription	Fetal Intestine Small	intestine
32	chr19:44127200-44131800	Strong transcription	Brain Anterior Caudate	brain
33	chr19:44127200-44132000	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr19:44127400-44130200	Strong transcription	Brain Substantia Nigra	brain
35	chr19:44127400-44131000	Strong transcription	Brain Angular Gyrus	brain
36	chr19:44127400-44131000	Strong transcription	Brain Cingulate Gyrus	brain
37	chr19:44127400-44131000	Strong transcription	Brain Hippocampus Middle	brain
38	chr19:44127600-44130000	Enhancers	Placenta	Placenta
39	chr19:44127600-44130200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr19:44128600-44129800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr19:44128600-44130000	Enhancers	Fetal Thymus	thymus
42	chr19:44128600-44138800	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr19:44128800-44129800	Enhancers	Primary B cells from peripheral blood	blood
44	chr19:44128800-44129800	Enhancers	Primary T cells fromperipheralblood	blood
45	chr19:44128800-44129800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr19:44128800-44130000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
47	chr19:44128800-44130200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr19:44128800-44130600	Enhancers	Primary T helper cells PMA-I stimulated	--
49	chr19:44128800-44131000	Enhancers	Primary hematopoietic stem cells	blood
50	chr19:44129000-44130200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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