Variant report

Variant	rs72993480
Chromosome Location	chr19:19235115-19235116
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:19228835..19230713-chr19:19234651..19236877,2	K562	blood:
2	chr19:19231407..19234278-chr19:19235111..19237652,2	K562	blood:
3	chr19:19170341..19172586-chr19:19233488..19235464,2	K562	blood:
4	chr19:19170341..19177029-chr19:19229928..19235464,11	K562	blood:

Variant related genes	Relation type
ENSG00000181035	Chromatin interaction
ENSG00000064545	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10417318	0.87[ASN][1000 genomes]
rs3761082	0.87[ASN][1000 genomes]
rs3787041	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4808925	0.87[ASN][1000 genomes]
rs72993464	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72993466	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72993474	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72993489	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[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	nsv833779	chr19:19163492-19313091	Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19180600-19245600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr19:19180600-19248400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr19:19203800-19245600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr19:19212600-19240800	Weak transcription	Aorta	Aorta
5	chr19:19217000-19236800	Weak transcription	Hela-S3	cervix
6	chr19:19217200-19247800	Weak transcription	Right Atrium	heart
7	chr19:19220400-19247800	Weak transcription	Psoas Muscle	Psoas
8	chr19:19220800-19242800	Weak transcription	Osteobl	bone
9	chr19:19221800-19235200	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr19:19221800-19242800	Weak transcription	Spleen	Spleen
11	chr19:19221800-19243200	Weak transcription	A549	lung
12	chr19:19222000-19240800	Weak transcription	Primary hematopoietic stem cells	blood
13	chr19:19222200-19248200	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr19:19226800-19242600	Weak transcription	HepG2	liver
15	chr19:19227000-19239800	Weak transcription	Fetal Kidney	kidney
16	chr19:19230800-19242800	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr19:19230800-19242800	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr19:19230800-19243000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr19:19230800-19248400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr19:19231000-19242800	Weak transcription	Brain Substantia Nigra	brain
21	chr19:19231000-19242800	Weak transcription	Left Ventricle	heart
22	chr19:19231000-19245400	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr19:19231200-19242800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr19:19231200-19248000	Weak transcription	Fetal Brain Male	brain
25	chr19:19231800-19240800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr19:19231800-19240800	Weak transcription	Gastric	stomach
27	chr19:19231800-19242800	Weak transcription	Brain Germinal Matrix	brain
28	chr19:19231800-19242800	Weak transcription	Ovary	ovary
29	chr19:19231800-19243000	Weak transcription	Rectal Smooth Muscle	rectum
30	chr19:19231800-19245600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr19:19232000-19238000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr19:19232000-19240000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr19:19232000-19242800	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr19:19232000-19242800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr19:19232000-19242800	Weak transcription	Pancreas	Pancrea
36	chr19:19232000-19242800	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr19:19232200-19235200	Strong transcription	Fetal Muscle Trunk	muscle
38	chr19:19232200-19245200	Weak transcription	Primary T cells fromperipheralblood	blood
39	chr19:19232200-19245400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr19:19232400-19239800	Weak transcription	Fetal Intestine Small	intestine
41	chr19:19232400-19242800	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr19:19232400-19242800	Weak transcription	Right Ventricle	heart
43	chr19:19232400-19243000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr19:19232400-19243000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr19:19232600-19239800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr19:19232600-19240800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr19:19232600-19240800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr19:19232600-19242800	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr19:19232600-19242800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr19:19232600-19242800	Weak transcription	Duodenum Mucosa	Duodenum

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