Variant report

Variant	rs268658
Chromosome Location	chr19:40926752-40926753
allele	C/T
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:25)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:25 , 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	chr1:110752987..110753573-chr19:40926728..40927400,2	Hela-S3	cervix:
5	chr19:40923162..40928905-chr19:40946140..40953410,13	K562	blood:
6	chr19:40852293..40855712-chr19:40925717..40929885,3	MCF-7	breast:
7	chr19:40906949..40911838-chr19:40925099..40928868,7	MCF-7	breast:
8	chr19:40908326..40910073-chr19:40925324..40928202,3	MCF-7	breast:
9	chr19:40900180..40901998-chr19:40925471..40927242,2	MCF-7	breast:
10	chr19:40926277..40927581-chr19:40950150..40951106,4	K562	blood:
11	chr19:40926216..40927187-chr19:40948581..40949198,2	K562	blood:
12	chr19:40926589..40927246-chr22:32340710..32341362,2	Hela-S3	cervix:
13	chr19:40925431..40927511-chr19:41002653..41005302,2	MCF-7	breast:
14	chr10:101945294..101946054-chr19:40926631..40927255,2	Hela-S3	cervix:
15	chr19:40925645..40930180-chr19:40968953..40973278,5	MCF-7	breast:
16	chr19:40924589..40928891-chr19:40945459..40952399,19	MCF-7	breast:
17	chr19:40925517..40930305-chr19:40937557..40941421,7	K562	blood:
18	chr19:40922138..40925110-chr19:40925647..40928486,5	MCF-7	breast:
19	chr19:40925098..40933993-chr19:40944045..40956524,41	K562	blood:
20	chr19:40924946..40933265-chr19:40969030..40973228,17	K562	blood:
21	chr19:40926613..40929204-chr7:102713631..102716132,2	MCF-7	breast:
22	chr19:40926688..40928481-chr19:40969894..40971726,2	MCF-7	breast:
23	chr15:64451969..64454154-chr19:40925651..40928348,2	K562	blood:
24	chr12:33049986..33050843-chr19:40926643..40927147,2	Hela-S3	cervix:
25	chr19:39901637..39902618-chr19:40926654..40927443,2	Hela-S3	cervix:

No data

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

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10402565	1.00[AMR][1000 genomes]
rs10408716	1.00[AMR][1000 genomes]
rs183852	1.00[AMR][1000 genomes]
rs187908	1.00[AMR][1000 genomes]
rs268660	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs268661	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs268665	1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs268667	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs268675	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs268681	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4150994	1.00[AFR][1000 genomes];1.00[AMR][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:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40910200-40926800	Weak transcription	Gastric	stomach
2	chr19:40921200-40926800	Weak transcription	Fetal Heart	heart
3	chr19:40923400-40926800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr19:40923600-40926800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr19:40923600-40926800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr19:40923600-40926800	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr19:40925600-40926800	Active TSS	Stomach Smooth Muscle	stomach
8	chr19:40925800-40926800	Weak transcription	Lung	lung
9	chr19:40925800-40926800	Weak transcription	Spleen	Spleen
10	chr19:40926400-40926800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
11	chr19:40926400-40926800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
12	chr19:40926400-40926800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr19:40926400-40926800	Active TSS	Right Atrium	heart
14	chr19:40926400-40926800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
15	chr19:40926400-40927000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr19:40926400-40927000	Active TSS	Primary T helper cells fromperipheralblood	blood
17	chr19:40926400-40927000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr19:40926400-40927000	Active TSS	Fetal Lung	lung
19	chr19:40926400-40927200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr19:40926400-40927200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr19:40926400-40927400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr19:40926400-40927400	Active TSS	HUES6 Cell Line	embryonic stem cell
23	chr19:40926400-40927400	Active TSS	HUES64 Cell Line	embryonic stem cell
24	chr19:40926400-40927400	Active TSS	iPS-15b Cell Line	embryonic stem cell
25	chr19:40926400-40927400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr19:40926400-40927400	Active TSS	Brain Inferior Temporal Lobe	brain
27	chr19:40926400-40927400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
28	chr19:40926400-40927400	Active TSS	Thymus	Thymus
29	chr19:40926400-40927400	Active TSS	Hela-S3	cervix
30	chr19:40926400-40927600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr19:40926400-40927600	Active TSS	Aorta	Aorta
32	chr19:40926400-40927600	Flanking Active TSS	Dnd41	blood
33	chr19:40926400-40927800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
34	chr19:40926400-40927800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr19:40926400-40927800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
36	chr19:40926400-40927800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr19:40926400-40927800	Active TSS	Pancreatic Islets	Pancreatic Islet
38	chr19:40926400-40927800	Active TSS	Psoas Muscle	Psoas
39	chr19:40926400-40928000	Active TSS	Primary T cells from cord blood	blood
40	chr19:40926600-40926800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr19:40926600-40926800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr19:40926600-40926800	Flanking Active TSS	Primary B cells from peripheral blood	blood
43	chr19:40926600-40926800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
44	chr19:40926600-40926800	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
45	chr19:40926600-40926800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
46	chr19:40926600-40926800	Active TSS	Cortex derived primary cultured neurospheres	brain
47	chr19:40926600-40926800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr19:40926600-40926800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr19:40926600-40926800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr19:40926600-40926800	Active TSS	Primary mononuclear cells fromperipheralblood	Blood

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