Variant report

Variant	esv275108
Chromosome Location	chr3:67633420-67640906
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:67635502..67637336-chr3:67638611..67641074,2	K562	blood:
2	chr3:67639021..67641563-chr3:67644439..67647690,3	K562	blood:
3	chr3:67626314..67629227-chr3:67636253..67638089,2	MCF-7	breast:
4	chr3:67635502..67637336-chr3:67638611..67641074,2	K562	blood:

Extended variants
information (count: 305 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:305 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1974109	chr3:67633420-67633421	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs550676012	chr3:67633423-67633424	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs78629329	chr3:67633426-67633427	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs189464897	chr3:67633448-67633449	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs542534747	chr3:67633468-67633469	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs529507275	chr3:67633511-67633512	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs115254170	chr3:67633519-67633520	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs199861442	chr3:67633594-67633595	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs4380422	chr3:67633614-67633615	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs182061279	chr3:67633637-67633638	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs74428600	chr3:67633638-67633639	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs150325795	chr3:67633728-67633729	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs560770452	chr3:67633731-67633732	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs567286236	chr3:67633751-67633752	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs542921401	chr3:67633804-67633805	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs547348090	chr3:67633806-67633807	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs567139650	chr3:67633818-67633819	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs80141011	chr3:67633825-67633826	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs79241498	chr3:67633826-67633827	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs559108409	chr3:67633834-67633835	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs575706883	chr3:67633927-67633928	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs537961573	chr3:67633928-67633929	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs4856878	chr3:67633931-67633932	Weak transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs141980066	chr3:67633946-67633947	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs540216984	chr3:67634001-67634002	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs74574241	chr3:67634002-67634003	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs184385597	chr3:67634100-67634101	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs376009795	chr3:67634107-67634108	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs544929762	chr3:67634122-67634123	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs113106302	chr3:67634146-67634147	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs538844250	chr3:67634149-67634150	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs565098126	chr3:67634247-67634248	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs550296115	chr3:67634304-67634305	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs530689883	chr3:67634318-67634319	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs189090967	chr3:67634321-67634322	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs79252373	chr3:67634350-67634351	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs552394498	chr3:67634359-67634360	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs371686750	chr3:67634381-67634382	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs145728730	chr3:67634420-67634421	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs566296119	chr3:67634423-67634424	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs539326600	chr3:67634440-67634441	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs78840125	chr3:67634462-67634463	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs569453298	chr3:67634488-67634489	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs538027132	chr3:67634513-67634514	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs554676852	chr3:67634535-67634536	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs574580847	chr3:67634565-67634566	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs181167361	chr3:67634589-67634590	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs373387367	chr3:67634638-67634639	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs138638660	chr3:67634693-67634694	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs377350666	chr3:67634696-67634697	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
Acute myeloid leukemia	20729466	CNVD
Glioblastoma multiforme	21080181	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16608533	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	19490591	CNVD
Autism	18414403	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-small cell lung cancer	20864512	CNVD
Metastatic melanoma	17975146	CNVD
Breast cancer	21509527	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Autism	22102821	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	21062444	CNVD
Prostate cancer	17217626	CNVD
Urothelial cell carcinoma	18451213	CNVD
Alzheimer''s disease	22166940	CNVD
Mental retardation	20848658	CNVD
Breast cancer	17142309	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:194 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:67578200-67634600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr3:67579400-67633800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr3:67579400-67657600	Weak transcription	Pancreas	Pancrea
4	chr3:67582200-67637000	Weak transcription	Rectal Smooth Muscle	rectum
5	chr3:67595000-67639400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr3:67598000-67644200	Weak transcription	NHLF	lung
7	chr3:67601800-67673000	Weak transcription	Fetal Heart	heart
8	chr3:67602200-67644200	Weak transcription	Gastric	stomach
9	chr3:67602200-67654800	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr3:67602200-67655400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr3:67602200-67656000	Weak transcription	Fetal Muscle Trunk	muscle
12	chr3:67602400-67646200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr3:67602600-67635600	Weak transcription	Aorta	Aorta
14	chr3:67609200-67637000	Weak transcription	Ovary	ovary
15	chr3:67609400-67644000	Weak transcription	NHDF-Ad	bronchial
16	chr3:67612400-67697200	Weak transcription	Hela-S3	cervix
17	chr3:67614000-67658600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr3:67616600-67644200	Weak transcription	HSMM	muscle
19	chr3:67618600-67655600	Weak transcription	NH-A	brain
20	chr3:67620400-67639800	Weak transcription	Small Intestine	intestine
21	chr3:67621000-67637200	Weak transcription	HepG2	liver
22	chr3:67621200-67644200	Weak transcription	Esophagus	oesophagus
23	chr3:67621200-67657600	Weak transcription	Fetal Stomach	stomach
24	chr3:67621400-67640000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr3:67621400-67650400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr3:67621600-67634000	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr3:67621800-67634600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr3:67621800-67639400	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr3:67621800-67640600	Weak transcription	Placenta	Placenta
30	chr3:67621800-67644000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr3:67621800-67658000	Weak transcription	Thymus	Thymus
32	chr3:67622000-67635600	Weak transcription	GM12878-XiMat	blood
33	chr3:67622000-67640800	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr3:67622000-67641400	Weak transcription	Duodenum Mucosa	Duodenum
35	chr3:67622000-67648800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr3:67622200-67657400	Weak transcription	Brain Substantia Nigra	brain
37	chr3:67622400-67635800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr3:67622400-67637000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr3:67622400-67647800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr3:67622600-67635400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr3:67622600-67644400	Weak transcription	HMEC	breast
42	chr3:67622800-67634200	Weak transcription	Primary T helper cells fromperipheralblood	blood
43	chr3:67622800-67644000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr3:67623200-67636600	Weak transcription	A549	lung
45	chr3:67623400-67633800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr3:67623400-67650000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr3:67624400-67643800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr3:67624400-67649200	Weak transcription	Fetal Intestine Large	intestine
49	chr3:67624800-67637200	Weak transcription	Liver	Liver
50	chr3:67624800-67643800	Weak transcription	Dnd41	blood

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