Variant report

Variant	rs922216
Chromosome Location	chr19:40927013-40927014
allele	A/C
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:31)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:31 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:65588160..65588846-chr19:40926746..40927497,2	Hela-S3	cervix:
2	chr19:40919789..40935162-chr19:40946854..40955873,58	MCF-7	breast:
3	chr16:14726247..14727207-chr19:40926670..40927559,2	Hela-S3	cervix:
4	chr1:11967943..11968586-chr19:40926816..40927550,3	Hela-S3	cervix:
5	chr1:110752987..110753573-chr19:40926728..40927400,2	Hela-S3	cervix:
6	chr19:40923162..40928905-chr19:40946140..40953410,13	K562	blood:
7	chr19:40852293..40855712-chr19:40925717..40929885,3	MCF-7	breast:
8	chr19:40906949..40911838-chr19:40925099..40928868,7	MCF-7	breast:
9	chr19:40908326..40910073-chr19:40925324..40928202,3	MCF-7	breast:
10	chr19:40900180..40901998-chr19:40925471..40927242,2	MCF-7	breast:
11	chr19:40926277..40927581-chr19:40950150..40951106,4	K562	blood:
12	chr19:40926216..40927187-chr19:40948581..40949198,2	K562	blood:
13	chr19:40873191..40875442-chr19:40926761..40928544,2	K562	blood:
14	chr19:40926589..40927246-chr22:32340710..32341362,2	Hela-S3	cervix:
15	chr19:40925431..40927511-chr19:41002653..41005302,2	MCF-7	breast:
16	chr10:101945294..101946054-chr19:40926631..40927255,2	Hela-S3	cervix:
17	chr19:40926815..40927662-chr2:45837683..45838237,2	Hela-S3	cervix:
18	chr19:40925645..40930180-chr19:40968953..40973278,5	MCF-7	breast:
19	chr19:40924589..40928891-chr19:40945459..40952399,19	MCF-7	breast:
20	chr19:40925517..40930305-chr19:40937557..40941421,7	K562	blood:
21	chr19:40922138..40925110-chr19:40925647..40928486,5	MCF-7	breast:
22	chr19:40925098..40933993-chr19:40944045..40956524,41	K562	blood:
23	chr19:40924946..40933265-chr19:40969030..40973228,17	K562	blood:
24	chr19:40926613..40929204-chr7:102713631..102716132,2	MCF-7	breast:
25	chr19:40926688..40928481-chr19:40969894..40971726,2	MCF-7	breast:
26	chr15:64451969..64454154-chr19:40925651..40928348,2	K562	blood:
27	chr19:40914819..40917676-chr19:40926759..40928384,2	MCF-7	breast:
28	chr12:33049986..33050843-chr19:40926643..40927147,2	Hela-S3	cervix:
29	chr19:40926801..40927436-chr4:83822120..83822993,2	Hela-S3	cervix:
30	chr11:62341029..62341609-chr19:40926822..40927795,2	Hela-S3	cervix:
31	chr19:39901637..39902618-chr19:40926654..40927443,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
ENSG00000105223	Chromatin interaction
ENSG00000160392	Chromatin interaction
ENSG00000268366	Chromatin interaction
ENSG00000254772	Chromatin interaction
ENSG00000128254	Chromatin interaction
ENSG00000128245	Chromatin interaction
ENSG00000107566	Chromatin interaction
ENSG00000103429	Chromatin interaction
ENSG00000170632	Chromatin interaction
ENSG00000160460	Chromatin interaction
ENSG00000138674	Chromatin interaction
ENSG00000090013	Chromatin interaction
ENSG00000199568	Chromatin interaction
ENSG00000167565	Chromatin interaction
ENSG00000161040	Chromatin interaction
ENSG00000140694	Chromatin interaction
ENSG00000199347	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10423800	1.00[EUR][1000 genomes]
rs268682	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs366973	1.00[EUR][1000 genomes]
rs398162	1.00[EUR][1000 genomes]
rs400195	1.00[EUR][1000 genomes]
rs403842	1.00[EUR][1000 genomes]
rs4150980	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4150982	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57554707	1.00[EUR][1000 genomes]
rs8112927	1.00[EUR][1000 genomes]
rs9630860	1.00[EUR][1000 genomes]
rs9630868	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1826663	chr19:40529943-41023601	Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
2	nsv833831	chr19:40796740-40960865	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
3	nsv911706	chr19:40842529-40969203	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
4	nsv911707	chr19:40855255-40948202	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
5	nsv911708	chr19:40855255-40982375	Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
6	esv1830682	chr19:40880127-41270055	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	139 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40926400-40927200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr19:40926400-40927200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr19:40926400-40927400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr19:40926400-40927400	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr19:40926400-40927400	Active TSS	HUES64 Cell Line	embryonic stem cell
6	chr19:40926400-40927400	Active TSS	iPS-15b Cell Line	embryonic stem cell
7	chr19:40926400-40927400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr19:40926400-40927400	Active TSS	Brain Inferior Temporal Lobe	brain
9	chr19:40926400-40927400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
10	chr19:40926400-40927400	Active TSS	Thymus	Thymus
11	chr19:40926400-40927400	Active TSS	Hela-S3	cervix
12	chr19:40926400-40927600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr19:40926400-40927600	Active TSS	Aorta	Aorta
14	chr19:40926400-40927600	Flanking Active TSS	Dnd41	blood
15	chr19:40926400-40927800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
16	chr19:40926400-40927800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr19:40926400-40927800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
18	chr19:40926400-40927800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr19:40926400-40927800	Active TSS	Pancreatic Islets	Pancreatic Islet
20	chr19:40926400-40927800	Active TSS	Psoas Muscle	Psoas
21	chr19:40926400-40928000	Active TSS	Primary T cells from cord blood	blood
22	chr19:40926600-40927200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
23	chr19:40926600-40927200	Active TSS	Brain Hippocampus Middle	brain
24	chr19:40926600-40927200	Active TSS	Placenta Amnion	Placenta Amnion
25	chr19:40926600-40927400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr19:40926600-40927400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr19:40926600-40927400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr19:40926600-40927400	Active TSS	HUES48 Cell Line	embryonic stem cell
29	chr19:40926600-40927400	Active TSS	iPS-18 Cell Line	embryonic stem cell
30	chr19:40926600-40927400	Active TSS	iPS-20b Cell Line	embryonic stem cell
31	chr19:40926600-40927400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr19:40926600-40927400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
33	chr19:40926600-40927400	Active TSS	Primary monocytes fromperipheralblood	blood
34	chr19:40926600-40927400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
35	chr19:40926600-40927400	Active TSS	Primary T killer memory cells from peripheral blood	blood
36	chr19:40926600-40927400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr19:40926600-40927400	Active TSS	Liver	Liver
38	chr19:40926600-40927400	Active TSS	Brain Angular Gyrus	brain
39	chr19:40926600-40927400	Active TSS	Brain Anterior Caudate	brain
40	chr19:40926600-40927400	Active TSS	Brain Substantia Nigra	brain
41	chr19:40926600-40927400	Active TSS	Colonic Mucosa	Colon
42	chr19:40926600-40927400	Active TSS	Colon Smooth Muscle	Colon
43	chr19:40926600-40927400	Active TSS	Duodenum Mucosa	Duodenum
44	chr19:40926600-40927400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
45	chr19:40926600-40927400	Active TSS	Fetal Intestine Large	intestine
46	chr19:40926600-40927400	Active TSS	Fetal Intestine Small	intestine
47	chr19:40926600-40927400	Active TSS	Fetal Kidney	kidney
48	chr19:40926600-40927400	Active TSS	Fetal Stomach	stomach
49	chr19:40926600-40927400	Active TSS	Left Ventricle	heart
50	chr19:40926600-40927400	Active TSS	Pancreas	Pancrea

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