Variant report

Variant	esv3463847
Chromosome Location	chr3:191067758-191072356
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:191059352..191066044-chr3:191070268..191075568,9	K562	blood:
2	chr3:191047039..191048673-chr3:191068047..191069756,2	MCF-7	breast:
3	chr3:191060607..191064094-chr3:191071227..191073545,3	K562	blood:
4	chr3:191064142..191066044-chr3:191070268..191071943,3	K562	blood:
5	chr3:191071589..191073614-chr3:191084774..191087547,2	K562	blood:
6	chr3:191072104..191073931-chr3:191077551..191079300,2	K562	blood:

Variant related genes	Relation type
ENSG00000188958	chromatin interactions
ENSG00000152492	chromatin interactions

Extended variants
information (count: 186 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:186 , 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	rs386398893	chr3:191067758-191067759	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs386398894	chr3:191067762-191067763	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs199829394	chr3:191067763-191067764	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs11454979	chr3:191067764-191067765	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs372569592	chr3:191067765-191067766	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs74528102	chr3:191067777-191067778	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs62286574	chr3:191067779-191067780	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs368172615	chr3:191067862-191067863	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs448643	chr3:191067863-191067864	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs563254807	chr3:191067870-191067871	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs192827735	chr3:191067871-191067872	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs550060783	chr3:191067960-191067961	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs184502768	chr3:191067970-191067971	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs565869436	chr3:191067992-191067993	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs148402689	chr3:191067996-191067997	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs548354197	chr3:191068012-191068013	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs189453472	chr3:191068022-191068023	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs571405310	chr3:191068044-191068045	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs112030185	chr3:191068075-191068076	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs186394243	chr3:191068084-191068085	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs76001579	chr3:191068085-191068086	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs293799	chr3:191068132-191068133	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs558737332	chr3:191068135-191068136	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs572610770	chr3:191068142-191068143	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs541305129	chr3:191068218-191068219	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs555142116	chr3:191068249-191068250	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs549476759	chr3:191068267-191068268	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs293798	chr3:191068288-191068289	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs34932833	chr3:191068343-191068344	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs114106350	chr3:191068350-191068351	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs2364379	chr3:191068390-191068391	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs189338515	chr3:191068403-191068404	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs159488	chr3:191068412-191068413	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs112323355	chr3:191068427-191068428	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs578030739	chr3:191068430-191068431	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs71312411	chr3:191068453-191068454	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs79988865	chr3:191068469-191068470	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs374609869	chr3:191068521-191068522	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs568229934	chr3:191068527-191068528	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs78146988	chr3:191068546-191068547	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs74835916	chr3:191068567-191068568	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs293797	chr3:191068588-191068589	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs376772089	chr3:191068610-191068611	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs373645353	chr3:191068615-191068616	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs142737726	chr3:191068617-191068618	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs80205369	chr3:191068667-191068668	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs566089600	chr3:191068669-191068670	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs367924271	chr3:191068787-191068788	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs554902367	chr3:191068859-191068860	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs181672504	chr3:191068917-191068918	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:64)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	21115979	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	16608533	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
Parkinson disease	21907011	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	16751803	CNVD
abnormal development	18461090	CNVD
Autism	19653912	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Prostate cancer	18632612	CNVD
Autism	18414403	CNVD
Cervical cancer	21062161	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Austim spectrum disorder	21302340	CNVD
Lung cancer	19547694	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD
Myelofibrosis	22110671	CNVD
Optic atrophy	21457585	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-small cell lung cancer	21829676	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Esophageal cancer	20955586	CNVD
Breast cancer	16397240	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:298 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:191050200-191074800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr3:191059600-191069800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr3:191060600-191068000	Weak transcription	Stomach Smooth Muscle	stomach
4	chr3:191060600-191074800	Weak transcription	Primary B cells from cord blood	blood
5	chr3:191060800-191068400	Weak transcription	Stomach Mucosa	stomach
6	chr3:191061000-191068200	Weak transcription	Right Atrium	heart
7	chr3:191061000-191068400	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr3:191061000-191069400	Weak transcription	Spleen	Spleen
9	chr3:191061000-191070800	Weak transcription	Lung	lung
10	chr3:191061200-191068200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr3:191061200-191073200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr3:191061200-191073200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr3:191061600-191068000	Weak transcription	Hela-S3	cervix
14	chr3:191061800-191067800	Weak transcription	Rectal Smooth Muscle	rectum
15	chr3:191062000-191067800	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr3:191062000-191067800	Weak transcription	NH-A	brain
17	chr3:191062000-191069200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr3:191062000-191075600	Weak transcription	K562	blood
19	chr3:191062200-191068000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr3:191062200-191068000	Weak transcription	Fetal Brain Male	brain
21	chr3:191062200-191068200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr3:191062200-191075400	Weak transcription	Fetal Brain Female	brain
23	chr3:191062600-191070800	Weak transcription	Pancreas	Pancrea
24	chr3:191062800-191068200	Weak transcription	Aorta	Aorta
25	chr3:191063000-191076600	Weak transcription	Brain Substantia Nigra	brain
26	chr3:191063400-191067800	Weak transcription	Adipose Nuclei	Adipose
27	chr3:191063400-191068200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr3:191063400-191068400	Weak transcription	Small Intestine	intestine
29	chr3:191063600-191068000	Weak transcription	Osteobl	bone
30	chr3:191063600-191070800	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr3:191063800-191067800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr3:191064200-191067800	Enhancers	HUVEC	blood vessel
33	chr3:191064200-191069800	Enhancers	Primary B cells from peripheral blood	blood
34	chr3:191064600-191072000	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr3:191065200-191067800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr3:191065400-191068000	Weak transcription	NHLF	lung
37	chr3:191065400-191068200	Enhancers	Colon Smooth Muscle	Colon
38	chr3:191065400-191068400	Weak transcription	Right Ventricle	heart
39	chr3:191065400-191071400	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr3:191065600-191068200	Weak transcription	A549	lung
41	chr3:191065800-191068000	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr3:191066600-191068200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr3:191066600-191068200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr3:191066600-191071000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr3:191066800-191068600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr3:191067000-191068000	Enhancers	GM12878-XiMat	blood
47	chr3:191067000-191068200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr3:191067000-191068200	Enhancers	Fetal Lung	lung
49	chr3:191067000-191069200	Weak transcription	Left Ventricle	heart
50	chr3:191067200-191069200	Weak transcription	Gastric	stomach

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