Variant report

Variant	rs67033402
Chromosome Location	chr19:41739254-41739255
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:41730351..41733971-chr19:41737087..41743441,7	K562	blood:
2	chr19:41730730..41737018-chr19:41737152..41743219,7	K562	blood:
3	chr19:41736676..41739290-chr19:41770146..41772060,2	MCF-7	breast:
4	chr19:41738381..41740687-chr19:41762333..41764630,2	K562	blood:
5	chr19:41737149..41740146-chr19:41745201..41747116,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000167601	Chromatin interaction
ENSG00000105323	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12462203	0.94[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs12978098	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12979764	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12980248	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12984621	0.92[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs4802111	0.96[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4802113	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4803448	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4803449	0.96[ASN][1000 genomes]
rs6508974	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7246525	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][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	nsv911768	chr19:41680424-41748753	Flanking Bivalent TSS/Enh Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:41730200-41762600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr19:41732600-41768800	Weak transcription	Small Intestine	intestine
3	chr19:41732800-41742800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr19:41732800-41745200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr19:41733000-41739400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr19:41733000-41739400	Weak transcription	Ovary	ovary
7	chr19:41733000-41740200	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr19:41733000-41743000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr19:41733000-41743200	Weak transcription	Right Ventricle	heart
10	chr19:41733000-41743600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr19:41733000-41743600	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr19:41733000-41743600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr19:41733000-41743600	Weak transcription	Esophagus	oesophagus
14	chr19:41733000-41743600	Weak transcription	Spleen	Spleen
15	chr19:41733000-41743800	Weak transcription	Colonic Mucosa	Colon
16	chr19:41733000-41744200	Weak transcription	Gastric	stomach
17	chr19:41733000-41745200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr19:41733200-41739400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr19:41733200-41739400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr19:41733200-41739600	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr19:41733200-41740600	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr19:41733200-41741400	Weak transcription	Rectal Smooth Muscle	rectum
23	chr19:41733200-41745400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr19:41733200-41746000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr19:41733200-41749400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr19:41733200-41767200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr19:41733200-41767200	Strong transcription	Muscle Satellite Cultured Cells	--
28	chr19:41733800-41739400	Weak transcription	Fetal Intestine Small	intestine
29	chr19:41733800-41744800	Weak transcription	Fetal Intestine Large	intestine
30	chr19:41734000-41748600	Weak transcription	Hela-S3	cervix
31	chr19:41734200-41739400	Weak transcription	Primary hematopoietic stem cells	blood
32	chr19:41734200-41740200	Weak transcription	HSMMtube	muscle
33	chr19:41734600-41739800	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr19:41735400-41741600	Strong transcription	NHEK	skin
35	chr19:41736000-41752400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr19:41736000-41767200	Strong transcription	Osteobl	bone
37	chr19:41736000-41767400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr19:41736200-41743800	Weak transcription	Brain Anterior Caudate	brain
39	chr19:41736200-41745200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr19:41736200-41757000	Strong transcription	NH-A	brain
41	chr19:41736400-41741800	Strong transcription	HMEC	breast
42	chr19:41736400-41767800	Strong transcription	Placenta Amnion	Placenta Amnion
43	chr19:41736600-41739600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr19:41736600-41741600	Strong transcription	A549	lung
45	chr19:41736600-41741800	Strong transcription	Fetal Muscle Trunk	muscle
46	chr19:41736600-41743600	Weak transcription	Lung	lung
47	chr19:41736600-41743600	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr19:41736600-41745600	Weak transcription	Fetal Kidney	kidney
49	chr19:41736600-41757200	Strong transcription	NHLF	lung
50	chr19:41736600-41766200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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