Variant report

Variant	rs71334840
Chromosome Location	chr19:39673453-39673454
allele	CGTC/TGTCA
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:39643019..39646132-chr19:39671022..39674035,4	MCF-7	breast:
2	chr19:39660707..39662756-chr19:39672502..39674103,2	K562	blood:
3	chr19:39671387..39675690-chr19:39676720..39678693,3	K562	blood:
4	chr19:39659195..39660829-chr19:39672092..39674140,2	MCF-7	breast:
5	chr19:39601627..39603917-chr19:39672984..39674642,2	MCF-7	breast:
6	chr19:39617221..39619579-chr19:39672951..39675735,2	MCF-7	breast:
7	chr19:39672896..39675810-chr19:39732374..39734924,2	K562	blood:
8	chr19:39672992..39674987-chr19:39833706..39835660,2	K562	blood:
9	chr19:39668971..39672206-chr19:39672666..39676660,4	K562	blood:
10	chr19:39663680..39665927-chr19:39672756..39674305,2	MCF-7	breast:
11	chr19:39665845..39668553-chr19:39671678..39673593,2	K562	blood:
12	chr19:39673403..39676045-chr19:39694848..39697748,2	K562	blood:
13	chr19:39615269..39618904-chr19:39671305..39675094,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000179751	Chromatin interaction
ENSG00000130669	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11667387	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13228	0.91[ASN][1000 genomes]
rs17641276	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2304090	0.91[ASN][1000 genomes]
rs2319153	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4802021	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs8101444	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833829	chr19:39569681-39730777	Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv432048	chr19:39572060-39850060	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:39654200-39674000	Weak transcription	K562	blood
2	chr19:39657800-39687600	Weak transcription	Right Atrium	heart
3	chr19:39661400-39684600	Weak transcription	HSMM	muscle
4	chr19:39661800-39674000	Weak transcription	Stomach Mucosa	stomach
5	chr19:39662600-39681800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr19:39663200-39681400	Weak transcription	Fetal Kidney	kidney
7	chr19:39666000-39676600	Weak transcription	Fetal Lung	lung
8	chr19:39666000-39677000	Weak transcription	Fetal Brain Male	brain
9	chr19:39667400-39679600	Weak transcription	HSMMtube	muscle
10	chr19:39668400-39673800	Weak transcription	NHDF-Ad	bronchial
11	chr19:39668600-39674400	Weak transcription	Aorta	Aorta
12	chr19:39669000-39673600	Weak transcription	Primary B cells from cord blood	blood
13	chr19:39669000-39674800	Weak transcription	HUVEC	blood vessel
14	chr19:39669200-39685800	Weak transcription	NHEK	skin
15	chr19:39669400-39675800	Weak transcription	Hela-S3	cervix
16	chr19:39669400-39676000	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr19:39669400-39678200	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr19:39669600-39674800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr19:39669600-39675400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr19:39669600-39677800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr19:39669600-39678200	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr19:39669800-39673800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr19:39669800-39676000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr19:39669800-39678200	Weak transcription	Right Ventricle	heart
25	chr19:39670000-39675000	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr19:39670600-39678400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr19:39670800-39673800	Weak transcription	Rectal Smooth Muscle	rectum
28	chr19:39670800-39678200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr19:39671000-39673800	Weak transcription	Liver	Liver
30	chr19:39671000-39674200	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr19:39671000-39674200	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr19:39671000-39674200	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr19:39671000-39674800	Weak transcription	Primary T cells from cord blood	blood
34	chr19:39671000-39675200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr19:39671000-39675200	Weak transcription	Monocytes-CD14+_RO01746	blood
36	chr19:39671000-39675800	Weak transcription	Brain Hippocampus Middle	brain
37	chr19:39671000-39676000	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr19:39671000-39678200	Weak transcription	Esophagus	oesophagus
39	chr19:39671000-39678400	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr19:39671000-39678400	Weak transcription	Spleen	Spleen
41	chr19:39671200-39673600	Weak transcription	Brain Anterior Caudate	brain
42	chr19:39671200-39674000	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr19:39671200-39674200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr19:39671200-39675000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr19:39671600-39673800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr19:39671600-39675000	Weak transcription	Osteobl	bone
47	chr19:39671600-39675400	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr19:39671600-39675800	Weak transcription	Thymus	Thymus
49	chr19:39671800-39673600	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr19:39672000-39673800	Weak transcription	HUES48 Cell Line	embryonic stem cell

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