Variant report

Variant	esv3424024
Chromosome Location	chr9:117129931-117134229
allele	n/a
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:117124599..117127528-chr9:117131706..117133907,2	MCF-7	breast:
2	chr9:117133772..117138111-chr9:117140846..117145800,5	MCF-7	breast:
3	chr9:117125096..117127574-chr9:117133395..117135303,2	K562	blood:
4	chr9:117128146..117130850-chr9:117131277..117133766,2	K562	blood:
5	chr9:117120748..117124419-chr9:117126634..117130266,4	K562	blood:
6	chr9:117121453..117124656-chr9:117127891..117130187,3	K562	blood:
7	chr9:117129822..117132715-chr9:117137430..117139697,3	K562	blood:
8	chr9:117128146..117130850-chr9:117131277..117133766,2	K562	blood:
9	chr9:117132020..117134816-chr9:117137714..117139246,2	MCF-7	breast:
10	chr9:117129987..117132389-chr9:117136458..117138082,2	MCF-7	breast:
11	chr9:117125210..117131402-chr9:117158021..117161985,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000106948	chromatin interactions
ENSG00000235119	chromatin interactions

Extended variants
information (count: 159 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:159 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146163104	chr9:117129940-117129941	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs201466935	chr9:117129941-117129942	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs139014631	chr9:117129944-117129945	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs111580636	chr9:117129962-117129963	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs117415274	chr9:117130093-117130094	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs114778107	chr9:117130094-117130095	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs558079930	chr9:117130121-117130122	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs115112205	chr9:117130135-117130136	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs546215921	chr9:117130164-117130165	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs562810064	chr9:117130184-117130185	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs576152176	chr9:117130188-117130189	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs541971483	chr9:117130199-117130200	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs561953600	chr9:117130211-117130212	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs76927903	chr9:117130228-117130229	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs547766145	chr9:117130239-117130240	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs191043345	chr9:117130249-117130250	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs182930819	chr9:117130310-117130311	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs566067996	chr9:117130311-117130312	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs142800615	chr9:117130335-117130336	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs533695172	chr9:117130357-117130358	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs535555864	chr9:117130369-117130370	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs549141855	chr9:117130375-117130376	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs565879270	chr9:117130386-117130387	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs371140584	chr9:117130475-117130476	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs374408064	chr9:117130528-117130529	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs534841341	chr9:117130557-117130558	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs147443661	chr9:117130626-117130627	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs577887149	chr9:117130635-117130636	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs187556223	chr9:117130652-117130653	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs556525559	chr9:117130671-117130672	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs372918219	chr9:117130703-117130704	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs375854616	chr9:117130710-117130711	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs141152498	chr9:117130727-117130728	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs572280271	chr9:117130740-117130741	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs368698649	chr9:117130751-117130752	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs201531626	chr9:117130756-117130757	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs150708543	chr9:117130774-117130775	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs533699203	chr9:117130775-117130776	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs60819454	chr9:117130776-117130777	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs62640863	chr9:117130828-117130829	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs138188658	chr9:117130838-117130839	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs368417179	chr9:117130842-117130843	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs549078555	chr9:117130858-117130859	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs143456905	chr9:117130887-117130888	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs369312946	chr9:117130902-117130903	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs78321418	chr9:117130916-117130917	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs147144783	chr9:117130935-117130936	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs190174124	chr9:117130984-117130985	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs148605010	chr9:117130987-117130988	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs2763185	chr9:117131081-117131082	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:62)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Medulloblastoma	21979893	CNVD
microdeletion syndrome	16199537	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Myelofibrosis	22110671	CNVD
lymphocytic leukemia	21291569	CNVD
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Non-small cell lung cancer	21044232	CNVD
Brain cancer	20823417	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Renal cell carcinoma	19461508	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Heart disease	21282601	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
small cell lung cancer	20016488	CNVD
Cardiac fibroma	18329553	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	21364760	CNVD
Developmental delay	21147756	CNVD
Lung cancer	19147751	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Colorectal cancer	16272173	CNVD
Bladder cancer	21909424	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	21509527	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Cervical cancer	16585170	CNVD
Ependymoma	19289631	CNVD
Melanoma	17363583	CNVD
Retinoblastoma	19183342	CNVD

Chromatin state (count:405 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:117106600-117131400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr9:117107000-117143600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
3	chr9:117112000-117132600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr9:117112000-117134800	Weak transcription	Fetal Heart	heart
5	chr9:117112200-117131200	Strong transcription	HUES48 Cell Line	embryonic stem cell
6	chr9:117112400-117134600	Weak transcription	K562	blood
7	chr9:117113200-117133200	Strong transcription	Dnd41	blood
8	chr9:117117000-117130400	Strong transcription	Brain Anterior Caudate	brain
9	chr9:117117800-117131000	Strong transcription	Duodenum Smooth Muscle	Duodenum
10	chr9:117117800-117133600	Genic enhancers	Primary T cells fromperipheralblood	blood
11	chr9:117117800-117145200	Strong transcription	Fetal Intestine Small	intestine
12	chr9:117118600-117132400	Strong transcription	Fetal Muscle Trunk	muscle
13	chr9:117118800-117133400	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr9:117120400-117132000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr9:117121400-117134200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr9:117122200-117134800	Genic enhancers	Primary B cells from peripheral blood	blood
17	chr9:117124000-117146200	Weak transcription	Stomach Mucosa	stomach
18	chr9:117124200-117130600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr9:117124200-117132200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr9:117124400-117130400	Weak transcription	Right Ventricle	heart
21	chr9:117124600-117131800	Weak transcription	Fetal Kidney	kidney
22	chr9:117124800-117133400	Genic enhancers	Primary T cells from cord blood	blood
23	chr9:117125000-117134000	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr9:117125200-117130200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr9:117125400-117133800	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr9:117125400-117134000	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
27	chr9:117125600-117130000	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr9:117125800-117133600	Genic enhancers	Fetal Thymus	thymus
29	chr9:117125800-117134600	Genic enhancers	Primary monocytes fromperipheralblood	blood
30	chr9:117126000-117130600	Genic enhancers	Sigmoid Colon	Sigmoid Colon
31	chr9:117126000-117131600	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr9:117126600-117132000	Genic enhancers	Adipose Nuclei	Adipose
33	chr9:117127000-117130000	Genic enhancers	Rectal Mucosa Donor 31	rectum
34	chr9:117127000-117130200	Genic enhancers	Duodenum Mucosa	Duodenum
35	chr9:117127200-117133400	Weak transcription	HMEC	breast
36	chr9:117127200-117133600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr9:117127400-117130000	Weak transcription	HepG2	liver
38	chr9:117127600-117133800	Weak transcription	HUVEC	blood vessel
39	chr9:117128200-117130000	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr9:117128200-117130200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
41	chr9:117128400-117130000	Strong transcription	Brain Hippocampus Middle	brain
42	chr9:117128800-117130200	Strong transcription	Brain Substantia Nigra	brain
43	chr9:117128800-117130200	Genic enhancers	Fetal Lung	lung
44	chr9:117128800-117130400	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
45	chr9:117128800-117131000	Strong transcription	H1 Cell Line	embryonic stem cell
46	chr9:117128800-117131000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr9:117128800-117131000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr9:117128800-117131200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
49	chr9:117128800-117133600	Genic enhancers	Thymus	Thymus
50	chr9:117128800-117145000	Weak transcription	HSMMtube	muscle

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