Variant report

Variant	esv3408240
Chromosome Location	chr9:96375131-96379629
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:96374097..96376355-chr9:96382214..96384351,2	K562	blood:
2	chr9:96338137..96340211-chr9:96373633..96375791,2	K562	blood:
3	chr9:96337969..96340007-chr9:96379464..96381194,2	MCF-7	breast:
4	chr9:96375382..96377064-chr9:96378905..96380672,2	MCF-7	breast:
5	chr9:96375382..96377064-chr9:96378905..96380672,2	MCF-7	breast:
6	chr9:96336833..96339118-chr9:96375167..96379434,3	MCF-7	breast:
7	chr9:96379107..96381453-chr9:96385591..96387233,2	MCF-7	breast:
8	chr9:96353488..96355423-chr9:96374627..96377387,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000197724	chromatin interactions

Extended variants
information (count: 253 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:253 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs377655518	chr9:96375166-96375167	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs146277024	chr9:96375202-96375203	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs117120375	chr9:96375203-96375204	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs371468147	chr9:96375209-96375210	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs370378898	chr9:96375211-96375212	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs10123378	chr9:96375217-96375218	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs116077695	chr9:96375222-96375223	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs114908909	chr9:96375224-96375225	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs370958898	chr9:96375228-96375229	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs369755136	chr9:96375278-96375279	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs568212333	chr9:96375301-96375302	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs77897038	chr9:96375306-96375307	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs11791195	chr9:96375327-96375328	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs73651293	chr9:96375328-96375329	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs557259015	chr9:96375356-96375357	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs575152587	chr9:96375358-96375359	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs200189955	chr9:96375373-96375374	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs117457254	chr9:96375435-96375436	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs74928553	chr9:96375444-96375445	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs145952198	chr9:96375452-96375453	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs76433012	chr9:96375464-96375465	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs78382492	chr9:96375467-96375468	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs72745480	chr9:96375504-96375505	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs185909573	chr9:96375505-96375506	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs72745481	chr9:96375509-96375510	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs540472908	chr9:96375531-96375532	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs200154724	chr9:96375536-96375537	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs561949544	chr9:96375596-96375597	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs12555742	chr9:96375661-96375662	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs529406653	chr9:96375675-96375676	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs535355766	chr9:96375694-96375695	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs2989753	chr9:96375728-96375729	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs563171464	chr9:96375732-96375733	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs533201076	chr9:96375760-96375761	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs551738004	chr9:96375761-96375762	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs149693990	chr9:96375790-96375791	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs71499165	chr9:96375814-96375815	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs141576439	chr9:96375823-96375824	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs61705936	chr9:96375824-96375825	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs201420565	chr9:96375843-96375844	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs191646537	chr9:96375846-96375847	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs58925215	chr9:96375946-96375947	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs372618826	chr9:96375991-96375992	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs145499089	chr9:96376000-96376001	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs542093682	chr9:96376037-96376038	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs557320493	chr9:96376089-96376090	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs2989754	chr9:96376157-96376158	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs78361903	chr9:96376174-96376175	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs539100522	chr9:96376183-96376184	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs79730252	chr9:96376204-96376205	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
Chordoma	18071362	CNVD
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
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Melanoma	18172304	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
Leukemia	18688285	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
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Bipolar disorder	18458673	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Biliary cancer	19435499	CNVD
small cell lung cancer	20016488	CNVD
Intracranial aneurysm	16715129	CNVD
Cardiac fibroma	18329553	CNVD
Mental retardation	21693067	CNVD
Breast cancer	17133270	CNVD
Basal cell nevus syndrome	21572526	CNVD
Mental retardation	19951919	CNVD
Retinoblastoma	22278416	CNVD
9q22.3 microdeletion syndrome	22283845	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Microcephaly	18830227	CNVD
overgrowth syndrome	16570072	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:257 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:96352400-96384600	Weak transcription	NHLF	lung
2	chr9:96361400-96380400	Weak transcription	Fetal Brain Male	brain
3	chr9:96361600-96379400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr9:96363200-96392000	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr9:96363600-96383600	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr9:96364200-96380600	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr9:96366400-96379400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr9:96366600-96386600	Weak transcription	Fetal Heart	heart
9	chr9:96372800-96376000	Weak transcription	Right Ventricle	heart
10	chr9:96372800-96392000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr9:96373000-96377200	Enhancers	Psoas Muscle	Psoas
12	chr9:96373000-96379400	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr9:96373200-96376000	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr9:96373400-96375200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr9:96373400-96375200	Weak transcription	Fetal Intestine Small	intestine
16	chr9:96373400-96377000	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr9:96373400-96379400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr9:96373400-96379400	Weak transcription	Brain Anterior Caudate	brain
19	chr9:96373400-96379400	Weak transcription	Fetal Intestine Large	intestine
20	chr9:96373400-96386200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr9:96373400-96387000	Weak transcription	Fetal Brain Female	brain
22	chr9:96373400-96390000	Weak transcription	Primary B cells from cord blood	blood
23	chr9:96373600-96379400	Weak transcription	Brain Germinal Matrix	brain
24	chr9:96373800-96379000	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr9:96374000-96375400	Enhancers	Sigmoid Colon	Sigmoid Colon
26	chr9:96374200-96375600	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr9:96374200-96376400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr9:96374200-96376600	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr9:96374400-96375200	Enhancers	Colonic Mucosa	Colon
30	chr9:96374400-96375200	Enhancers	Stomach Mucosa	stomach
31	chr9:96374400-96375200	Enhancers	Thymus	Thymus
32	chr9:96374400-96375400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
33	chr9:96374400-96375400	Enhancers	Duodenum Smooth Muscle	Duodenum
34	chr9:96374400-96375600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
35	chr9:96374400-96375600	Enhancers	Duodenum Mucosa	Duodenum
36	chr9:96374400-96375600	Enhancers	HUVEC	blood vessel
37	chr9:96374400-96375800	Enhancers	HMEC	breast
38	chr9:96374400-96376000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
39	chr9:96374400-96376400	Enhancers	GM12878-XiMat	blood
40	chr9:96374400-96376600	Enhancers	Colon Smooth Muscle	Colon
41	chr9:96374400-96376800	Enhancers	Breast Myoepithelial Primary Cells	Breast
42	chr9:96374400-96377000	Enhancers	Primary B cells from peripheral blood	blood
43	chr9:96374600-96375200	Enhancers	Primary hematopoietic stem cells	blood
44	chr9:96374600-96375200	Weak transcription	Pancreas	Pancrea
45	chr9:96374600-96375400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr9:96374600-96375400	Enhancers	Primary T killer memory cells from peripheral blood	blood
47	chr9:96374600-96375600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
48	chr9:96374600-96375600	Enhancers	Esophagus	oesophagus
49	chr9:96374600-96375600	Enhancers	Rectal Smooth Muscle	rectum
50	chr9:96374600-96375800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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