Variant report

Variant	rs538040593
Chromosome Location	chr9:19127046-19127047
allele	A/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	chr9:19125987..19127822-chr9:19460752..19462438,2	MCF-7	breast:
2	chr9:19124716..19129711-chr9:19378738..19382022,6	K562	blood:
3	chr9:19125652..19127211-chr9:19148540..19150962,2	K562	blood:
4	chr9:19126615..19131871-chr9:19228040..19232542,7	MCF-7	breast:
5	chr9:19126391..19130012-chr9:19228888..19231863,3	MCF-7	breast:
6	chr9:19047624..19049710-chr9:19124952..19127835,2	MCF-7	breast:
7	chr9:19101429..19104985-chr9:19125580..19131342,7	K562	blood:
8	chr9:19047688..19050062-chr9:19125989..19129041,3	K562	blood:
9	chr9:19101057..19103224-chr9:19126510..19128425,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000147874	Chromatin interaction
ENSG00000231909	Chromatin interaction
ENSG00000155876	Chromatin interaction
ENSG00000147872	Chromatin interaction
ENSG00000137145	Chromatin interaction
ENSG00000137154	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017820	chr9:18882219-19587377	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
2	nsv540078	chr9:18882219-19587377	Genic enhancers Transcr. at gene 5' and 3' Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
3	nsv892700	chr9:18979441-19156784	Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv1028623	chr9:19034742-19394712	Strong transcription Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
5	nsv540079	chr9:19034742-19394712	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
6	nsv430003	chr9:19074740-19247826	Strong transcription Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv870340	chr9:19077714-19143230	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	nsv1018947	chr9:19094894-19394712	Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
9	nsv1033552	chr9:19104662-19131866	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv8423	chr9:19125975-19128690	Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
11	esv2757322	chr9:19126476-19161145	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
12	esv2759676	chr9:19126476-19161145	Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
13	nsv892702	chr9:19126565-19298581	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:19124400-19127200	Weak transcription	HMEC	breast
2	chr9:19125600-19129000	Active TSS	Right Atrium	heart
3	chr9:19126000-19129200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr9:19126000-19129200	Active TSS	Colonic Mucosa	Colon
5	chr9:19126200-19127200	Bivalent/Poised TSS	HepG2	liver
6	chr9:19126200-19127800	Active TSS	Pancreas	Pancrea
7	chr9:19126200-19128200	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
8	chr9:19126200-19128200	Active TSS	Hela-S3	cervix
9	chr9:19126200-19128600	Active TSS	NHLF	lung
10	chr9:19126200-19128800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr9:19126200-19129000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
12	chr9:19126200-19129000	Active TSS	Brain Substantia Nigra	brain
13	chr9:19126200-19129000	Active TSS	Colon Smooth Muscle	Colon
14	chr9:19126200-19129000	Active TSS	Fetal Kidney	kidney
15	chr9:19126200-19129000	Active TSS	Psoas Muscle	Psoas
16	chr9:19126200-19129000	Active TSS	Rectal Smooth Muscle	rectum
17	chr9:19126200-19129400	Active TSS	iPS-15b Cell Line	embryonic stem cell
18	chr9:19126400-19127200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
19	chr9:19126400-19127600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr9:19126400-19127800	Active TSS	NHEK	skin
21	chr9:19126400-19128000	Active TSS	Fetal Muscle Trunk	muscle
22	chr9:19126400-19128000	Active TSS	K562	blood
23	chr9:19126400-19128200	Active TSS	Stomach Smooth Muscle	stomach
24	chr9:19126400-19128400	Active TSS	HUES48 Cell Line	embryonic stem cell
25	chr9:19126400-19128400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr9:19126400-19128400	Active TSS	Gastric	stomach
27	chr9:19126400-19128600	Active TSS	iPS-20b Cell Line	embryonic stem cell
28	chr9:19126400-19128600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr9:19126400-19128600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr9:19126400-19128600	Active TSS	Brain Hippocampus Middle	brain
31	chr9:19126400-19128600	Active TSS	Esophagus	oesophagus
32	chr9:19126400-19128600	Active TSS	Rectal Mucosa Donor 29	rectum
33	chr9:19126400-19128600	Active TSS	NHDF-Ad	bronchial
34	chr9:19126400-19129000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr9:19126400-19129000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr9:19126400-19129000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr9:19126400-19129000	Active TSS	iPS-18 Cell Line	embryonic stem cell
38	chr9:19126400-19129000	Active TSS	Duodenum Mucosa	Duodenum
39	chr9:19126400-19129000	Active TSS	Pancreatic Islets	Pancreatic Islet
40	chr9:19126400-19129000	Active TSS	Left Ventricle	heart
41	chr9:19126400-19129000	Active TSS	Lung	lung
42	chr9:19126400-19129000	Active TSS	Ovary	ovary
43	chr9:19126400-19129000	Active TSS	Right Ventricle	heart
44	chr9:19126400-19130400	Active TSS	ES-I3 Cell Line	embryonic stem cell
45	chr9:19126400-19130400	Active TSS	HUES64 Cell Line	embryonic stem cell
46	chr9:19126600-19127200	Flanking Active TSS	Primary B cells from peripheral blood	blood
47	chr9:19126600-19127800	Active TSS	Primary neutrophils fromperipheralblood	blood
48	chr9:19126600-19127800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr9:19126600-19127800	Active TSS	Placenta	Placenta
50	chr9:19126600-19128000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell

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