Variant report

Variant	esv2647679
Chromosome Location	chr9:115936465-115937963
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:115935810..115938271-chr9:115941276..115943911,2	K562	blood:
2	chr9:115935268..115937947-chr9:115939386..115941079,2	K562	blood:
3	chr9:115934999..115936781-chr9:115940096..115941741,2	MCF-7	breast:
4	chr9:115930303..115932387-chr9:115934929..115937094,2	K562	blood:
5	chr9:115912871..115915332-chr9:115935674..115937488,2	K562	blood:

Variant related genes	Relation type
ENSG00000136867	chromatin interactions

Extended variants
information (count: 54 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:54 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539913190	chr9:115936507-115936508	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs575621118	chr9:115936607-115936608	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs368530174	chr9:115936623-115936624	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs578124738	chr9:115936625-115936626	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs558787627	chr9:115936645-115936646	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs369001341	chr9:115936669-115936670	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs34941215	chr9:115936670-115936671	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs569030843	chr9:115936679-115936680	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs371204130	chr9:115936721-115936722	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs199542319	chr9:115936740-115936741	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs200063335	chr9:115936748-115936749	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs554615016	chr9:115936760-115936761	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs369828107	chr9:115936766-115936767	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs373758414	chr9:115936815-115936816	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs376721902	chr9:115936827-115936828	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs369650218	chr9:115936861-115936862	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs370333882	chr9:115936899-115936900	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs3827673	chr9:115936903-115936904	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs553694649	chr9:115936910-115936911	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs142720138	chr9:115936917-115936918	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs576554960	chr9:115936927-115936928	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs375168770	chr9:115936928-115936929	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs532088035	chr9:115936940-115936941	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs552000006	chr9:115936943-115936944	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs545448587	chr9:115936977-115936978	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs368061962	chr9:115936988-115936989	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs562754051	chr9:115937010-115937011	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs192670601	chr9:115937013-115937014	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs541995974	chr9:115937015-115937016	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs563091617	chr9:115937034-115937035	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs201982259	chr9:115937063-115937064	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs138365812	chr9:115937097-115937098	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs375767568	chr9:115937098-115937099	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs374974434	chr9:115937099-115937100	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs185165278	chr9:115937100-115937101	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs369115183	chr9:115937101-115937102	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs372979545	chr9:115937102-115937103	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs377171873	chr9:115937103-115937104	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs200597516	chr9:115937379-115937380	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs34493639	chr9:115937405-115937406	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs142220195	chr9:115937416-115937417	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs547494306	chr9:115937455-115937456	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs564458501	chr9:115937477-115937478	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs537614321	chr9:115937492-115937493	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs144688110	chr9:115937569-115937570	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs550338020	chr9:115937593-115937594	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs368699618	chr9:115937739-115937740	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs570159793	chr9:115937762-115937763	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs190242981	chr9:115937766-115937767	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs556102094	chr9:115937798-115937799	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:182 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:115917800-115949400	Strong transcription	Placenta	Placenta
2	chr9:115918400-115947200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr9:115918800-115937000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr9:115919000-115936800	Strong transcription	Fetal Brain Female	brain
5	chr9:115919200-115937400	Strong transcription	HMEC	breast
6	chr9:115919200-115950800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr9:115919400-115936800	Strong transcription	Pancreas	Pancrea
8	chr9:115919400-115937000	Strong transcription	Sigmoid Colon	Sigmoid Colon
9	chr9:115919400-115937200	Strong transcription	Fetal Stomach	stomach
10	chr9:115919400-115950800	Strong transcription	Primary T cells from cord blood	blood
11	chr9:115919400-115954200	Strong transcription	Fetal Intestine Large	intestine
12	chr9:115919600-115936800	Strong transcription	Fetal Intestine Small	intestine
13	chr9:115919600-115938000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
14	chr9:115919600-115938800	Strong transcription	Primary neutrophils fromperipheralblood	blood
15	chr9:115919600-115940200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr9:115919800-115937000	Strong transcription	Fetal Muscle Leg	muscle
17	chr9:115919800-115939400	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr9:115920000-115939000	Strong transcription	Primary monocytes fromperipheralblood	blood
19	chr9:115920000-115942400	Strong transcription	Duodenum Mucosa	Duodenum
20	chr9:115920000-115950200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
21	chr9:115920000-115951400	Strong transcription	Fetal Muscle Trunk	muscle
22	chr9:115920000-115970200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr9:115920000-115973400	Strong transcription	Rectal Mucosa Donor 29	rectum
24	chr9:115920200-115956600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr9:115920400-115937200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr9:115920400-115973400	Strong transcription	Primary T helper cells fromperipheralblood	blood
27	chr9:115920600-115937200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr9:115920600-115941600	Strong transcription	Rectal Mucosa Donor 31	rectum
29	chr9:115920800-115966400	Strong transcription	Dnd41	blood
30	chr9:115920800-115975000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr9:115921000-115937800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr9:115921200-115936800	Strong transcription	Thymus	Thymus
33	chr9:115921800-115936800	Strong transcription	Primary B cells from cord blood	blood
34	chr9:115921800-115951000	Strong transcription	Fetal Thymus	thymus
35	chr9:115922400-115942000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr9:115922800-115956400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr9:115923000-115942200	Strong transcription	GM12878-XiMat	blood
38	chr9:115923000-115956200	Strong transcription	Primary T helper cells PMA-I stimulated	--
39	chr9:115923200-115937000	Strong transcription	Lung	lung
40	chr9:115923200-115940800	Strong transcription	NHEK	skin
41	chr9:115923400-115941800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr9:115923400-115976400	Strong transcription	Primary T cells fromperipheralblood	blood
43	chr9:115923600-115937000	Strong transcription	Colonic Mucosa	Colon
44	chr9:115923600-115937000	Strong transcription	Ovary	ovary
45	chr9:115923600-115937000	Strong transcription	Spleen	Spleen
46	chr9:115923600-115953600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr9:115923800-115937000	Strong transcription	Primary T helper naive cells from peripheral blood	blood
48	chr9:115923800-115937000	Strong transcription	K562	blood
49	chr9:115923800-115937200	Strong transcription	HUVEC	blood vessel
50	chr9:115923800-115950600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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