Variant report

Variant	rs73930228
Chromosome Location	chr19:39406825-39406826
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:18)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:18 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:39405228-39407361	K562	blood:	n/a	n/a
2	POLR2A	chr19:39406713-39406891	K562	blood:	n/a	n/a
3	POLR2A	chr19:39406683-39406883	ECC-1	luminal epithelium:	n/a	n/a
4	POLR2A	chr19:39406768-39406929	GM12878	blood:	n/a	n/a
5	JUND	chr19:39406468-39407006	A549	lung:	n/a	chr19:39406808-39406817
6	POLR2A	chr19:39405409-39406985	A549	lung:	n/a	n/a
7	POLR2A	chr19:39406130-39406966	A549	lung:	n/a	n/a
8	POLR2A	chr19:39406253-39406937	A549	lung:	n/a	n/a
9	POLR2A	chr19:39406415-39407957	HepG2	liver:	n/a	n/a
10	POLR2A	chr19:39406611-39406911	GM12878	blood:	n/a	n/a
11	POLR2A	chr19:39406602-39406864	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr19:39406809-39407189	PFSK-1	brain:	n/a	n/a
13	POLR2A	chr19:39402657-39410674	PANC-1	pancreas:	n/a	n/a
14	POLR2A	chr19:39406778-39406900	A549	lung:	n/a	n/a
15	POLR2A	chr19:39405208-39407333	SK-N-MC	brain:	n/a	n/a
16	POLR2A	chr19:39399024-39410741	PANC-1	pancreas:	n/a	n/a
17	POLR2A	chr19:39406458-39406893	A549	lung:	n/a	n/a
18	POLR2A	chr19:39406304-39407017	K562	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:39341273..39343616-chr19:39405354..39407525,2	MCF-7	breast:
2	chr19:39340110..39342981-chr19:39406423..39409674,4	MCF-7	breast:
3	chr19:39339767..39341589-chr19:39404601..39407841,3	K562	blood:
4	chr19:39340089..39343125-chr19:39404601..39408323,3	K562	blood:
5	chr19:39406282..39408716-chr19:39419182..39421050,3	K562	blood:
6	chr19:39402244..39405531-chr19:39405569..39407779,3	MCF-7	breast:

No data

Variant related genes	Relation type
CCER2	TF binding region
SARS2	TF binding region
ENSG00000262484	Chromatin interaction
ENSG00000104824	Chromatin interaction
ENSG00000104835	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10411209	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs10411301	0.84[AMR][1000 genomes]
rs10423309	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs13343573	0.84[AMR][1000 genomes]
rs16972885	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2070250	0.84[AMR][1000 genomes]
rs2070251	0.84[AMR][1000 genomes]
rs2082436	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2116853	0.84[AMR][1000 genomes]
rs2163811	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs2304115	0.84[AMR][1000 genomes]
rs2304116	0.84[AMR][1000 genomes]
rs28808414	0.84[AMR][1000 genomes]
rs28824318	0.84[AMR][1000 genomes]
rs28844707	0.84[AMR][1000 genomes]
rs28860185	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34264048	0.84[AMR][1000 genomes]
rs61194027	0.84[AMR][1000 genomes]
rs61232096	0.84[AMR][1000 genomes]
rs6508826	0.84[AMR][1000 genomes]
rs6508827	0.84[AMR][1000 genomes]
rs73930229	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	nsv1057899	chr19:39088319-39475493	Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
2	esv1837023	chr19:39190588-39425722	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:39391200-39420800	Weak transcription	Small Intestine	intestine
2	chr19:39391600-39414800	Weak transcription	HMEC	breast
3	chr19:39391600-39420600	Weak transcription	Right Atrium	heart
4	chr19:39391800-39412200	Weak transcription	Osteobl	bone
5	chr19:39392400-39414800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr19:39392600-39414600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr19:39392600-39418800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr19:39395600-39414800	Weak transcription	Primary hematopoietic stem cells	blood
9	chr19:39395600-39415000	Weak transcription	Hela-S3	cervix
10	chr19:39396600-39408400	Weak transcription	HepG2	liver
11	chr19:39396800-39412000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr19:39397000-39412200	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr19:39398000-39412400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr19:39398000-39420600	Weak transcription	Psoas Muscle	Psoas
15	chr19:39398200-39412200	Weak transcription	Brain Angular Gyrus	brain
16	chr19:39398400-39411600	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr19:39398600-39410200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr19:39398600-39415000	Weak transcription	Brain Substantia Nigra	brain
19	chr19:39398800-39409000	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr19:39398800-39410000	Weak transcription	HSMMtube	muscle
21	chr19:39398800-39411600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr19:39398800-39412000	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr19:39398800-39412200	Weak transcription	NHEK	skin
24	chr19:39398800-39412400	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr19:39398800-39415000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr19:39399000-39412400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr19:39399800-39408400	Weak transcription	A549	lung
28	chr19:39399800-39409000	Weak transcription	Pancreas	Pancrea
29	chr19:39399800-39412200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr19:39399800-39412200	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr19:39399800-39414800	Weak transcription	Primary B cells from peripheral blood	blood
32	chr19:39399800-39414800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr19:39400000-39410000	Weak transcription	K562	blood
34	chr19:39400000-39412000	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chr19:39400000-39412200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr19:39400000-39412200	Weak transcription	Primary T helper cells PMA-I stimulated	--
37	chr19:39400000-39412200	Weak transcription	Primary T helper cells fromperipheralblood	blood
38	chr19:39400000-39412200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr19:39400000-39414200	Weak transcription	Left Ventricle	heart
40	chr19:39400200-39408400	Weak transcription	Duodenum Mucosa	Duodenum
41	chr19:39400200-39410000	Weak transcription	Primary T cells from cord blood	blood
42	chr19:39400200-39410000	Weak transcription	Dnd41	blood
43	chr19:39400200-39412000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr19:39400200-39412000	Weak transcription	Aorta	Aorta
45	chr19:39400200-39412600	Weak transcription	Primary B cells from cord blood	blood
46	chr19:39400200-39412800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr19:39401000-39412000	Weak transcription	Gastric	stomach
48	chr19:39402200-39408400	Weak transcription	Ovary	ovary
49	chr19:39402400-39412200	Weak transcription	Right Ventricle	heart
50	chr19:39402800-39420200	Weak transcription	Colon Smooth Muscle	Colon

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