Variant report

Variant	rs41348950
Chromosome Location	chr19:44657679-44657680
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:44656349..44659296-chr19:44662919..44665289,2	MCF-7	breast:
2	chr19:44645508..44647957-chr19:44656987..44658556,2	K562	blood:
3	chr19:44656935..44659293-chr19:44661242..44662914,2	K562	blood:
4	chr19:44645079..44647957-chr19:44657056..44659299,2	K562	blood:

Variant related genes	Relation type
ENSG00000263002	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10404991	0.83[EUR][1000 genomes]
rs10413396	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs1047949	0.86[EUR][1000 genomes]
rs11880913	0.83[EUR][1000 genomes]
rs1369099	0.81[EUR][1000 genomes]
rs16978732	0.82[CEU][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap]
rs16978840	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1821460	0.81[EUR][1000 genomes]
rs41360748	1.00[ASW][hapmap];0.82[CEU][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59957346	0.86[EUR][1000 genomes]
rs60709409	0.89[EUR][1000 genomes]
rs61733037	0.83[EUR][1000 genomes]
rs6509142	0.81[TSI][hapmap]
rs7249904	0.82[CEU][hapmap];0.90[TSI][hapmap]
rs7259777	0.81[TSI][hapmap]
rs73555122	0.83[EUR][1000 genomes]
rs73555124	0.83[EUR][1000 genomes]
rs73555150	0.81[EUR][1000 genomes]
rs73555158	0.81[EUR][1000 genomes]
rs73555162	0.83[EUR][1000 genomes]
rs73555165	0.83[EUR][1000 genomes]
rs73555168	0.83[EUR][1000 genomes]
rs73555173	0.83[EUR][1000 genomes]
rs73555177	0.83[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	nsv833840	chr19:44520620-44715760	Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44646800-44657800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr19:44646800-44660200	Weak transcription	Stomach Mucosa	stomach
3	chr19:44647000-44660200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr19:44647000-44660200	Weak transcription	Hela-S3	cervix
5	chr19:44647000-44660400	Weak transcription	Fetal Heart	heart
6	chr19:44647800-44668400	ZNF genes & repeats	Liver	Liver
7	chr19:44648200-44658200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr19:44648200-44660000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr19:44648400-44658000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr19:44648400-44658800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr19:44648400-44658800	Strong transcription	Fetal Muscle Leg	muscle
12	chr19:44648400-44659400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr19:44648400-44660000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr19:44648400-44660000	Strong transcription	Placenta	Placenta
15	chr19:44648400-44660400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr19:44648400-44663200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
17	chr19:44648600-44658600	Strong transcription	Brain Anterior Caudate	brain
18	chr19:44648600-44658600	Strong transcription	Rectal Smooth Muscle	rectum
19	chr19:44648600-44658800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr19:44648600-44659000	Strong transcription	HUES64 Cell Line	embryonic stem cell
21	chr19:44648600-44659000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr19:44648600-44659000	Strong transcription	Dnd41	blood
23	chr19:44648600-44659400	Strong transcription	Fetal Muscle Trunk	muscle
24	chr19:44648600-44659600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr19:44648600-44659800	Strong transcription	Cortex derived primary cultured neurospheres	brain
26	chr19:44648600-44660000	Strong transcription	Left Ventricle	heart
27	chr19:44648600-44660200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr19:44648600-44660200	Strong transcription	Muscle Satellite Cultured Cells	--
29	chr19:44648600-44661800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr19:44648800-44658000	Strong transcription	Primary T cells fromperipheralblood	blood
31	chr19:44648800-44661200	Strong transcription	Fetal Intestine Large	intestine
32	chr19:44649400-44657800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr19:44651400-44657800	Strong transcription	Primary B cells from cord blood	blood
34	chr19:44651600-44658600	Strong transcription	HUES6 Cell Line	embryonic stem cell
35	chr19:44651800-44660200	Strong transcription	Osteobl	bone
36	chr19:44652200-44657800	Strong transcription	Brain Hippocampus Middle	brain
37	chr19:44652200-44658000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
38	chr19:44652200-44658200	Strong transcription	Primary T cells from cord blood	blood
39	chr19:44652200-44658200	Strong transcription	HSMM	muscle
40	chr19:44652200-44658800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr19:44652200-44658800	Strong transcription	NHDF-Ad	bronchial
42	chr19:44652200-44659400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr19:44652200-44659800	Strong transcription	HSMMtube	muscle
44	chr19:44652200-44660200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr19:44652200-44662200	ZNF genes & repeats	Ovary	ovary
46	chr19:44652200-44662800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr19:44652400-44658200	Strong transcription	Brain Inferior Temporal Lobe	brain
48	chr19:44652400-44667600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
49	chr19:44652800-44658200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr19:44652800-44661400	Strong transcription	Placenta Amnion	Placenta Amnion

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