Variant report

Variant	rs2288874
Chromosome Location	chr19:41852775-41852776
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:41852427-41852789	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:41852529..41854943-chr19:41858048..41860399,3	K562	blood:
2	chr19:41849690..41854029-chr19:41856026..41859802,4	K562	blood:

Variant related genes	Relation type
TGFB1	TF binding region
TMEM91	TF binding region
ENSG00000255730	TF binding region
ENSG00000255730	Chromatin interaction
ENSG00000142046	Chromatin interaction
ENSG00000105329	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10406816	0.85[ASN][1000 genomes]
rs10416269	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12461895	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1549934	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1989457	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2241717	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2288873	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4803455	0.89[ASN][1000 genomes]
rs6508976	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7258445	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7408955	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8108632	0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:41818600-41854800	Strong transcription	Dnd41	blood
2	chr19:41832400-41856000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr19:41834200-41856600	Weak transcription	Brain Anterior Caudate	brain
4	chr19:41834200-41856800	Weak transcription	Fetal Kidney	kidney
5	chr19:41834400-41854800	Weak transcription	Small Intestine	intestine
6	chr19:41834800-41855600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr19:41834800-41856800	Weak transcription	Brain Cingulate Gyrus	brain
8	chr19:41834800-41856800	Weak transcription	Brain Substantia Nigra	brain
9	chr19:41835000-41854400	Strong transcription	Fetal Stomach	stomach
10	chr19:41835000-41856600	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr19:41835000-41856800	Weak transcription	Brain Angular Gyrus	brain
12	chr19:41835600-41856000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr19:41836000-41855200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr19:41837800-41855800	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr19:41838600-41856600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr19:41840400-41854600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr19:41840800-41855800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr19:41841800-41856600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr19:41843400-41854600	Strong transcription	HUVEC	blood vessel
20	chr19:41844000-41853800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr19:41844200-41854200	Strong transcription	Thymus	Thymus
22	chr19:41845800-41856000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr19:41846400-41854400	Genic enhancers	Primary T helper cells fromperipheralblood	blood
24	chr19:41846400-41854800	Genic enhancers	Primary T cells fromperipheralblood	blood
25	chr19:41846400-41855000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr19:41846400-41855000	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
27	chr19:41846600-41854200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr19:41846600-41854400	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
29	chr19:41846800-41854400	Strong transcription	Stomach Smooth Muscle	stomach
30	chr19:41846800-41854800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
31	chr19:41847000-41855800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr19:41847400-41853600	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
33	chr19:41847600-41853600	Strong transcription	Placenta Amnion	Placenta Amnion
34	chr19:41847600-41854400	Strong transcription	Osteobl	bone
35	chr19:41848200-41854000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr19:41848200-41854000	Strong transcription	Placenta	Placenta
37	chr19:41848200-41854400	Strong transcription	Sigmoid Colon	Sigmoid Colon
38	chr19:41848200-41854600	Strong transcription	Fetal Thymus	thymus
39	chr19:41848200-41855000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr19:41848200-41855200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr19:41848200-41856600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr19:41848200-41856600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr19:41848200-41857000	Weak transcription	Pancreas	Pancrea
44	chr19:41848400-41857000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr19:41848800-41855000	Strong transcription	K562	blood
46	chr19:41848800-41856000	Strong transcription	NHEK	skin
47	chr19:41849000-41854400	Strong transcription	Adipose Nuclei	Adipose
48	chr19:41849200-41852800	Strong transcription	GM12878-XiMat	blood
49	chr19:41849200-41854400	Strong transcription	Duodenum Smooth Muscle	Duodenum
50	chr19:41849400-41854400	Strong transcription	Rectal Mucosa Donor 29	rectum

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