Variant report

Variant	esv3504242
Chromosome Location	chr3:75831708-75832104
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:47 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs79239075	chr3:75831719-75831720	ZNF genes & repeats Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
2	rs200013656	chr3:75831762-75831763	ZNF genes & repeats Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
3	rs4974313	chr3:75831763-75831764	ZNF genes & repeats Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs200941081	chr3:75831782-75831783	ZNF genes & repeats Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
5	rs536335101	chr3:75831806-75831807	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
6	rs374480770	chr3:75831824-75831825	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
7	rs569862811	chr3:75831827-75831828	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
8	rs76739768	chr3:75831845-75831846	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
9	rs35908114	chr3:75831857-75831858	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
10	rs184116704	chr3:75831867-75831868	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
11	rs146519838	chr3:75831872-75831873	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
12	rs75325801	chr3:75831878-75831879	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
13	rs188618396	chr3:75831889-75831890	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
14	rs574407250	chr3:75831894-75831895	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
15	rs78263189	chr3:75831895-75831896	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
16	rs80200345	chr3:75831896-75831897	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
17	rs531776326	chr3:75831899-75831900	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
18	rs541667796	chr3:75831909-75831910	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
19	rs75050354	chr3:75831911-75831912	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
20	rs78538463	chr3:75831912-75831913	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
21	rs561638059	chr3:75831916-75831917	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
22	rs543568967	chr3:75831917-75831918	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
23	rs141065395	chr3:75831919-75831920	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
24	rs532637677	chr3:75831920-75831921	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
25	rs548083863	chr3:75831928-75831929	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
26	rs4974329	chr3:75831938-75831939	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs113045619	chr3:75831941-75831942	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
28	rs148872961	chr3:75831948-75831949	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
29	rs570126332	chr3:75831977-75831978	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
30	rs192721087	chr3:75831979-75831980	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
31	rs184339599	chr3:75831982-75831983	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
32	rs112529892	chr3:75831999-75832000	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
33	rs143513173	chr3:75832003-75832004	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
34	rs113441522	chr3:75832004-75832005	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
35	rs553259463	chr3:75832011-75832012	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
36	rs574344710	chr3:75832012-75832013	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
37	rs80183633	chr3:75832025-75832026	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
38	rs556548333	chr3:75832030-75832031	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
39	rs76420889	chr3:75832035-75832036	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
40	rs574946651	chr3:75832041-75832042	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
41	rs532602283	chr3:75832045-75832046	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
42	rs545514818	chr3:75832056-75832057	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
43	rs565101220	chr3:75832065-75832066	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
44	rs140724004	chr3:75832069-75832070	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
45	rs541358561	chr3:75832076-75832077	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
46	rs368309789	chr3:75832083-75832084	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
47	rs35956540	chr3:75832084-75832085	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:81)

Disease	PMID	Source
Acute myeloid leukemia	20729466	CNVD
Glioblastoma multiforme	21080181	CNVD
Melanoma	18172304	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
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
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	21251322	CNVD
Hirschsprung''s Disease	21712996	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
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Autism	22102821	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Prostate cancer	18632612	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Colorectal cancer	16272173	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Soft tissue tumor	16732325	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Ovarian cancer	21720365	CNVD
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21858162	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:128 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:75796800-75832800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr3:75818400-75833800	Weak transcription	Right Ventricle	heart
3	chr3:75820000-75833800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr3:75821800-75833600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr3:75822000-75833600	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr3:75824400-75833600	Weak transcription	NHDF-Ad	bronchial
7	chr3:75825600-75832400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
8	chr3:75825600-75832400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
9	chr3:75825800-75832200	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
10	chr3:75825800-75832800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr3:75826000-75832400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
12	chr3:75826000-75832400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
13	chr3:75826800-75831800	Strong transcription	Brain Angular Gyrus	brain
14	chr3:75827000-75832200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr3:75827200-75832200	ZNF genes & repeats	Fetal Brain Female	brain
16	chr3:75827200-75832800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr3:75827600-75831800	Strong transcription	Fetal Stomach	stomach
18	chr3:75827600-75833400	Weak transcription	Colon Smooth Muscle	Colon
19	chr3:75828000-75832400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
20	chr3:75828000-75832400	Strong transcription	Brain Anterior Caudate	brain
21	chr3:75828000-75833600	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr3:75828000-75833600	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr3:75828400-75831800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr3:75828800-75832200	Strong transcription	Fetal Intestine Large	intestine
25	chr3:75828800-75832200	Strong transcription	Stomach Smooth Muscle	stomach
26	chr3:75828800-75832400	ZNF genes & repeats	Fetal Intestine Small	intestine
27	chr3:75829000-75833600	Weak transcription	Small Intestine	intestine
28	chr3:75829200-75831800	Strong transcription	Fetal Muscle Leg	muscle
29	chr3:75829400-75831800	Strong transcription	Brain Hippocampus Middle	brain
30	chr3:75829800-75833600	Weak transcription	Psoas Muscle	Psoas
31	chr3:75830000-75831800	Strong transcription	Brain Cingulate Gyrus	brain
32	chr3:75830000-75832000	Strong transcription	Primary T helper naive cells from peripheral blood	blood
33	chr3:75830000-75832400	Strong transcription	Fetal Kidney	kidney
34	chr3:75830000-75833600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr3:75830000-75834800	ZNF genes & repeats	GM12878-XiMat	blood
36	chr3:75830200-75832200	ZNF genes & repeats	Primary T cells from cord blood	blood
37	chr3:75830200-75832200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr3:75830200-75832400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr3:75830200-75832400	ZNF genes & repeats	A549	lung
40	chr3:75830400-75831800	Strong transcription	Brain Germinal Matrix	brain
41	chr3:75830400-75832000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
42	chr3:75830400-75832200	Strong transcription	Adipose Nuclei	Adipose
43	chr3:75830400-75832200	Strong transcription	Fetal Muscle Trunk	muscle
44	chr3:75830400-75833800	Weak transcription	Primary neutrophils fromperipheralblood	blood
45	chr3:75830800-75832200	ZNF genes & repeats	Esophagus	oesophagus
46	chr3:75830800-75832200	ZNF genes & repeats	Ovary	ovary
47	chr3:75830800-75832400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr3:75831000-75832000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr3:75831000-75832000	ZNF genes & repeats	Placenta	Placenta
50	chr3:75831000-75832200	Strong transcription	Left Ventricle	heart

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