Variant report

Variant	rs7259775
Chromosome Location	chr19:44806202-44806203
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:44792368..44795343-chr19:44804228..44806715,3	K562	blood:
2	chr19:44803134..44806293-chr19:44806524..44808794,3	K562	blood:
3	chr19:44803407..44806293-chr19:44806642..44810099,5	K562	blood:
4	chr19:44762662..44765169-chr19:44806024..44808707,2	K562	blood:

Variant related genes	Relation type
ENSG00000159915	Chromatin interaction
ENSG00000159917	Chromatin interaction
ENSG00000270679	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10403199	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10404742	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10408954	1.00[EUR][1000 genomes]
rs10411672	0.91[YRI][hapmap];1.00[EUR][1000 genomes]
rs10418545	1.00[EUR][1000 genomes]
rs10420704	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10423950	1.00[EUR][1000 genomes]
rs16978899	1.00[EUR][1000 genomes]
rs35932898	1.00[EUR][1000 genomes]
rs4449053	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58005257	1.00[EUR][1000 genomes]
rs7246523	1.00[EUR][1000 genomes]
rs73553262	1.00[EUR][1000 genomes]
rs73553269	1.00[EUR][1000 genomes]
rs73553273	1.00[EUR][1000 genomes]
rs73553283	1.00[EUR][1000 genomes]
rs73553293	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73553294	1.00[EUR][1000 genomes]
rs73555129	1.00[EUR][1000 genomes]
rs73555130	1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3329886	chr19:44806187-44808310	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44777000-44807000	ZNF genes & repeats	Liver	Liver
2	chr19:44790400-44806800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr19:44790400-44808400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr19:44791200-44806800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
5	chr19:44792400-44807600	Weak transcription	HUVEC	blood vessel
6	chr19:44792800-44807600	Weak transcription	NH-A	brain
7	chr19:44792800-44808400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr19:44794400-44806400	Strong transcription	Rectal Mucosa Donor 29	rectum
9	chr19:44794400-44806800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr19:44794600-44807600	Strong transcription	Primary B cells from cord blood	blood
11	chr19:44796800-44806800	Strong transcription	Brain Germinal Matrix	brain
12	chr19:44798400-44807000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr19:44798400-44807400	Strong transcription	Dnd41	blood
14	chr19:44798600-44806800	Strong transcription	Cortex derived primary cultured neurospheres	brain
15	chr19:44799200-44806800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr19:44799400-44806800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr19:44799400-44806800	Strong transcription	Fetal Kidney	kidney
18	chr19:44799600-44806800	Strong transcription	Placenta	Placenta
19	chr19:44799600-44806800	Strong transcription	Stomach Smooth Muscle	stomach
20	chr19:44799600-44807600	Strong transcription	Skeletal Muscle Female	skeletal muscle
21	chr19:44799800-44807400	Weak transcription	K562	blood
22	chr19:44799800-44807600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr19:44800000-44806800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr19:44800000-44806800	Strong transcription	Primary neutrophils fromperipheralblood	blood
25	chr19:44800000-44806800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr19:44800200-44806400	Strong transcription	Brain Cingulate Gyrus	brain
27	chr19:44800200-44806800	Strong transcription	HUES48 Cell Line	embryonic stem cell
28	chr19:44800200-44806800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
29	chr19:44800400-44806800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
30	chr19:44800400-44806800	Strong transcription	Brain Anterior Caudate	brain
31	chr19:44800800-44806800	Strong transcription	Fetal Muscle Leg	muscle
32	chr19:44801000-44807600	Strong transcription	Skeletal Muscle Male	skeletal muscle
33	chr19:44801200-44806800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr19:44801200-44806800	Strong transcription	Fetal Thymus	thymus
35	chr19:44801200-44806800	Strong transcription	Thymus	Thymus
36	chr19:44801400-44806600	Strong transcription	Fetal Lung	lung
37	chr19:44801400-44807000	Strong transcription	Fetal Intestine Large	intestine
38	chr19:44801400-44807400	Weak transcription	NHLF	lung
39	chr19:44801400-44807600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr19:44801400-44807600	Weak transcription	HSMM	muscle
41	chr19:44801600-44806400	Strong transcription	Primary B cells from peripheral blood	blood
42	chr19:44801600-44806600	Strong transcription	Primary T helper cells PMA-I stimulated	--
43	chr19:44801600-44806800	Strong transcription	Primary T helper cells fromperipheralblood	blood
44	chr19:44801600-44806800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr19:44801600-44806800	Strong transcription	Rectal Mucosa Donor 31	rectum
46	chr19:44802000-44806800	Strong transcription	Primary T cells from cord blood	blood
47	chr19:44802200-44806800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr19:44802200-44806800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr19:44802200-44807600	Strong transcription	Fetal Stomach	stomach
50	chr19:44802600-44807400	Weak transcription	HMEC	breast

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