Variant report

Variant	esv3376779
Chromosome Location	chr9:140615863-140616049
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:140611220..140613659-chr9:140615717..140618487,3	K562	blood:
2	chr9:140611220..140612891-chr9:140615717..140617300,2	K562	blood:

Variant related genes	Relation type
ENSG00000181090	chromatin interactions

Extended variants
information (count: 12 )
Associated
traits (count: 20 )

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs374276727	chr9:140615872-140615873	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs546573221	chr9:140615880-140615881	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs566504750	chr9:140615947-140615948	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs531991531	chr9:140615952-140615953	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs572822603	chr9:140615955-140615956	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs201575435	chr9:140615956-140615957	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs551710987	chr9:140615971-140615972	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs113281338	chr9:140615974-140615975	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs568636647	chr9:140615985-140615986	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs537513348	chr9:140616000-140616001	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs575333306	chr9:140616002-140616003	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs537520469	chr9:140616027-140616028	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:20)

Disease	PMID	Source
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Cardiac fibroma	18329553	CNVD
Lung cancer	19147751	CNVD
Cervical cancer	17311676	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastric cancer	17908304	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Chordoma	18071362	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Sudden cardiac death	19188705	CNVD
Myoepithelioma	18604193	CNVD
Tuberous sclerosis	19566914	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Mantle cell lymphoma	19029149	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:137 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:140573000-140638400	Weak transcription	Small Intestine	intestine
2	chr9:140597600-140618000	Weak transcription	NH-A	brain
3	chr9:140598800-140649800	Weak transcription	Stomach Mucosa	stomach
4	chr9:140600400-140618200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr9:140603200-140634000	Weak transcription	Fetal Heart	heart
6	chr9:140604000-140634200	Weak transcription	Right Atrium	heart
7	chr9:140607600-140619200	Weak transcription	HSMMtube	muscle
8	chr9:140608200-140617000	Strong transcription	Cortex derived primary cultured neurospheres	brain
9	chr9:140609000-140616000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr9:140609400-140616600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr9:140610200-140618200	Weak transcription	Psoas Muscle	Psoas
12	chr9:140610200-140618200	Weak transcription	NHDF-Ad	bronchial
13	chr9:140610600-140616400	Strong transcription	Brain Inferior Temporal Lobe	brain
14	chr9:140610800-140640000	Weak transcription	HUVEC	blood vessel
15	chr9:140611000-140616200	Strong transcription	Pancreas	Pancrea
16	chr9:140611000-140616400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr9:140611000-140616400	Strong transcription	Rectal Mucosa Donor 31	rectum
18	chr9:140611000-140617400	Strong transcription	A549	lung
19	chr9:140611000-140617600	Strong transcription	Dnd41	blood
20	chr9:140611200-140616000	Strong transcription	HUES48 Cell Line	embryonic stem cell
21	chr9:140611200-140616000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr9:140611200-140616200	Strong transcription	Adipose Nuclei	Adipose
23	chr9:140611200-140616200	Strong transcription	Right Ventricle	heart
24	chr9:140611400-140616200	Strong transcription	Primary neutrophils fromperipheralblood	blood
25	chr9:140611800-140618200	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr9:140612200-140618200	Weak transcription	Osteobl	bone
27	chr9:140612400-140616400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
28	chr9:140612600-140616000	Strong transcription	HUES6 Cell Line	embryonic stem cell
29	chr9:140612600-140617000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr9:140612600-140618400	Weak transcription	Colon Smooth Muscle	Colon
31	chr9:140612600-140619000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr9:140612800-140616800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr9:140612800-140616800	Weak transcription	Ovary	ovary
34	chr9:140612800-140618800	Strong transcription	Fetal Intestine Small	intestine
35	chr9:140613000-140616200	Strong transcription	Primary B cells from cord blood	blood
36	chr9:140613000-140616200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr9:140613000-140616400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr9:140613000-140616800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr9:140613000-140618000	Weak transcription	Brain Substantia Nigra	brain
40	chr9:140613000-140618200	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr9:140613000-140618200	Weak transcription	GM12878-XiMat	blood
42	chr9:140613000-140620200	Weak transcription	Fetal Kidney	kidney
43	chr9:140613000-140620400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr9:140613000-140622600	Weak transcription	HSMM	muscle
45	chr9:140613000-140624200	Weak transcription	Brain Angular Gyrus	brain
46	chr9:140613000-140628400	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr9:140613400-140617200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr9:140613400-140617400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr9:140613600-140616200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr9:140613800-140616000	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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