Variant report

Variant	rs4808180
Chromosome Location	chr19:19162057-19162058
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:19161764-19163753	K562	blood:	n/a	n/a
2	POLR2A	chr19:19161781-19166997	K562	blood:	n/a	n/a
3	POLR2A	chr19:19162036-19162299	HepG2	liver:	n/a	n/a
4	POLR2A	chr19:19161705-19162161	K562	blood:	n/a	n/a
5	POLR2A	chr19:19160954-19166976	K562	blood:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:19161010..19164780-chr19:19249045..19252111,4	MCF-7	breast:
2	chr19:19150556..19153646-chr19:19160742..19164221,4	K562	blood:
3	chr19:19158546..19161308-chr19:19161560..19163154,2	K562	blood:
4	chr19:19161417..19167211-chr19:19171135..19175299,5	MCF-7	breast:
5	chr19:19153804..19155400-chr19:19160958..19162912,2	K562	blood:
6	chr19:19161171..19163416-chr19:19248764..19250387,2	K562	blood:
7	chr19:19161051..19163295-chr19:19164654..19166677,2	MCF-7	breast:
8	chr19:19144430..19146064-chr19:19161561..19163477,2	MCF-7	breast:

No data

Variant related genes	Relation type
ARMC6	TF binding region
ENSG00000064607	Chromatin interaction
ENSG00000181035	Chromatin interaction
ENSG00000064545	Chromatin interaction
ENSG00000105676	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10164302	0.95[EUR][1000 genomes]
rs10221450	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10221529	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11549380	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28498174	0.97[EUR][1000 genomes]
rs4808171	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[EUR][1000 genomes]
rs4808178	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4808181	1.00[CEU][hapmap];1.00[GIH][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4808896	0.97[EUR][1000 genomes]
rs4808897	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[EUR][1000 genomes]
rs4808899	0.97[EUR][1000 genomes]
rs4808909	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4808910	1.00[CEU][hapmap];1.00[GIH][hapmap];0.82[MEX][hapmap];0.91[MKK][hapmap];0.95[TSI][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4808912	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4808914	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4808915	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4808921	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4808922	1.00[CEU][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs55658345	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55678828	0.97[EUR][1000 genomes]
rs56141206	0.97[EUR][1000 genomes]
rs56144126	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs56159042	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56227420	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs60489867	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60696741	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72993458	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72993462	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73004898	0.97[EUR][1000 genomes]
rs73004899	0.97[EUR][1000 genomes]
rs73006907	0.97[EUR][1000 genomes]
rs73006928	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73008923	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73008928	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73008930	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73008934	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73008939	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73008945	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73008949	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73008958	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73008960	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73010908	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833778	chr19:19012669-19201487	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
2	nsv1059305	chr19:19131310-19209999	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
3	nsv543927	chr19:19147376-19178024	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
4	esv3420595	chr19:19160552-19164950	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19145000-19174000	Weak transcription	Small Intestine	intestine
2	chr19:19145400-19165600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr19:19145400-19171800	Weak transcription	Right Atrium	heart
4	chr19:19145600-19172200	Weak transcription	Stomach Mucosa	stomach
5	chr19:19145600-19173800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr19:19145600-19173800	Weak transcription	Fetal Kidney	kidney
7	chr19:19149400-19164800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr19:19151000-19173800	Weak transcription	Fetal Brain Male	brain
9	chr19:19151800-19166000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr19:19151800-19173800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr19:19151800-19173800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr19:19152600-19173200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
13	chr19:19152800-19171400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr19:19153200-19171000	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr19:19153200-19171200	Strong transcription	HUES64 Cell Line	embryonic stem cell
16	chr19:19153200-19171400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr19:19153200-19172200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr19:19153200-19173600	Strong transcription	Fetal Stomach	stomach
19	chr19:19153400-19163800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr19:19153400-19167400	Strong transcription	Fetal Muscle Leg	muscle
21	chr19:19153400-19168400	Strong transcription	Fetal Intestine Small	intestine
22	chr19:19153400-19168600	Strong transcription	Fetal Intestine Large	intestine
23	chr19:19153400-19169800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr19:19153400-19170400	Strong transcription	H9 Cell Line	embryonic stem cell
25	chr19:19153400-19170800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr19:19153400-19170800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr19:19153400-19170800	Strong transcription	HUES48 Cell Line	embryonic stem cell
28	chr19:19153400-19171000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr19:19153400-19171200	Strong transcription	Cortex derived primary cultured neurospheres	brain
30	chr19:19155400-19162400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr19:19155400-19162400	Weak transcription	Aorta	Aorta
32	chr19:19155400-19165200	Weak transcription	NHDF-Ad	bronchial
33	chr19:19155600-19162400	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr19:19155600-19162400	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr19:19155600-19162600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr19:19155600-19162600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr19:19155600-19165000	Weak transcription	HUVEC	blood vessel
38	chr19:19155800-19162400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr19:19155800-19162400	Weak transcription	Brain Substantia Nigra	brain
40	chr19:19155800-19162400	Weak transcription	Gastric	stomach
41	chr19:19155800-19162400	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr19:19155800-19162800	Weak transcription	Colon Smooth Muscle	Colon
43	chr19:19155800-19163800	Weak transcription	Hela-S3	cervix
44	chr19:19156200-19162200	Weak transcription	Colonic Mucosa	Colon
45	chr19:19156600-19172800	Strong transcription	Dnd41	blood
46	chr19:19157000-19162400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr19:19157400-19166200	Strong transcription	Fetal Lung	lung
48	chr19:19157400-19169400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
49	chr19:19157800-19164000	Strong transcription	Duodenum Mucosa	Duodenum
50	chr19:19157800-19169400	Strong transcription	Primary T helper cells PMA-I stimulated	--

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