Variant report

Variant	rs268661
Chromosome Location	chr19:40924643-40924644
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:40919789..40935162-chr19:40946854..40955873,58	MCF-7	breast:
2	chr19:40923162..40928905-chr19:40946140..40953410,13	K562	blood:
3	chr19:40921665..40924662-chr19:40947927..40951762,4	K562	blood:
4	chr19:40923575..40925694-chr19:40991784..40997056,4	K562	blood:
5	chr19:40924589..40928891-chr19:40945459..40952399,19	MCF-7	breast:
6	chr19:40922138..40925110-chr19:40925647..40928486,5	MCF-7	breast:
7	chr19:40902381..40905021-chr19:40922193..40925177,2	K562	blood:
8	chr19:40923492..40925057-chr19:41121600..41124224,2	K562	blood:
9	chr19:40917620..40920679-chr19:40922579..40925435,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000090006	Chromatin interaction
ENSG00000105227	Chromatin interaction
ENSG00000268366	Chromatin interaction
ENSG00000167565	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]
rs268658	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs268660	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs268665	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:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40910200-40926800	Weak transcription	Gastric	stomach
2	chr19:40914400-40926600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr19:40917600-40926600	Weak transcription	Esophagus	oesophagus
4	chr19:40918000-40926400	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr19:40918000-40926400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr19:40918000-40926600	Weak transcription	HSMM	muscle
7	chr19:40919400-40926600	Weak transcription	Ovary	ovary
8	chr19:40920000-40926400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr19:40920000-40926600	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr19:40920000-40926600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr19:40921000-40926400	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr19:40921000-40926400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr19:40921200-40926400	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr19:40921200-40926600	Weak transcription	HSMMtube	muscle
15	chr19:40921200-40926800	Weak transcription	Fetal Heart	heart
16	chr19:40921800-40926400	Weak transcription	Primary B cells from cord blood	blood
17	chr19:40922800-40926000	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr19:40923200-40926400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr19:40923200-40926400	Weak transcription	Fetal Lung	lung
20	chr19:40923200-40926600	Weak transcription	Fetal Kidney	kidney
21	chr19:40923400-40925200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr19:40923400-40926400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr19:40923400-40926400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr19:40923400-40926400	Weak transcription	Primary B cells from peripheral blood	blood
25	chr19:40923400-40926400	Weak transcription	Osteobl	bone
26	chr19:40923400-40926600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr19:40923400-40926600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr19:40923400-40926600	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr19:40923400-40926600	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr19:40923400-40926600	Weak transcription	HMEC	breast
31	chr19:40923400-40926600	Weak transcription	NHDF-Ad	bronchial
32	chr19:40923400-40926600	Weak transcription	NHLF	lung
33	chr19:40923400-40926800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr19:40923600-40925000	Weak transcription	Hela-S3	cervix
35	chr19:40923600-40925800	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr19:40923600-40926400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr19:40923600-40926400	Weak transcription	Psoas Muscle	Psoas
38	chr19:40923600-40926600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr19:40923600-40926600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr19:40923600-40926600	Enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr19:40923600-40926600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr19:40923600-40926600	Weak transcription	Primary T helper cells PMA-I stimulated	--
43	chr19:40923600-40926600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr19:40923600-40926600	Weak transcription	Colon Smooth Muscle	Colon
45	chr19:40923600-40926600	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr19:40923600-40926600	Weak transcription	NH-A	brain
47	chr19:40923600-40926800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
48	chr19:40923600-40926800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr19:40923600-40926800	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr19:40923800-40925000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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