Variant report

Variant	esv3474232
Chromosome Location	chr6:117837728-117839919
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:117802670..117804620-chr6:117839004..117842734,3	K562	blood:
2	chr6:117833098..117835589-chr6:117838290..117840609,2	K562	blood:
3	chr6:117833098..117835004-chr6:117837097..117839790,2	K562	blood:
4	chr6:117839772..117841973-chr6:117880647..117882925,2	K562	blood:

Variant related genes	Relation type
ENSG00000164465	chromatin interactions

Extended variants
information (count: 82 )
Associated
traits (count: 115 )

Variant overlapped rSNPs/rCNVs (count:82 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567462607	chr6:117837728-117837729	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs185505581	chr6:117837735-117837736	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs576014476	chr6:117837759-117837760	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs549924953	chr6:117837790-117837791	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs368291374	chr6:117837804-117837805	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs543438298	chr6:117837819-117837820	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs190149264	chr6:117837824-117837825	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs571229637	chr6:117837827-117837828	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs11756993	chr6:117837849-117837850	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs372677772	chr6:117837861-117837862	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs573457566	chr6:117837878-117837879	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs181380297	chr6:117837883-117837884	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs185754592	chr6:117837913-117837914	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs573896095	chr6:117837922-117837923	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs149163744	chr6:117837965-117837966	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs210613	chr6:117838016-117838017	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs544834977	chr6:117838043-117838044	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs210614	chr6:117838064-117838065	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs191464771	chr6:117838081-117838082	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs371545446	chr6:117838082-117838083	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs375997545	chr6:117838102-117838103	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs143329996	chr6:117838104-117838105	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs377441006	chr6:117838105-117838106	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs527581925	chr6:117838113-117838114	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs542911737	chr6:117838114-117838115	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs111675849	chr6:117838173-117838174	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs531554248	chr6:117838213-117838214	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs550036725	chr6:117838321-117838322	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs571345809	chr6:117838371-117838372	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs532294487	chr6:117838437-117838438	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs547071786	chr6:117838439-117838440	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs138524657	chr6:117838471-117838472	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs144039246	chr6:117838572-117838573	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs183687412	chr6:117838573-117838574	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs210615	chr6:117838589-117838590	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs188614088	chr6:117838597-117838598	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs150666864	chr6:117838608-117838609	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs549845119	chr6:117838616-117838617	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs577712810	chr6:117838639-117838640	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs545524295	chr6:117838689-117838690	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs192468138	chr6:117838722-117838723	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs139096175	chr6:117838741-117838742	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs542523655	chr6:117838791-117838792	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs574006858	chr6:117838793-117838794	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs182128790	chr6:117838805-117838806	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs369199236	chr6:117838814-117838815	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs543641571	chr6:117838828-117838829	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs11153666	chr6:117838918-117838919	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs12182243	chr6:117838921-117838922	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs555311799	chr6:117838922-117838923	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:115)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	22495311	CNVD
Gastric cancer	17908304	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
T-cell lymphomas	19863542	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Ependymoma	16718352	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	19242612	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Lung adenocarcinoma	21935476	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Burkitt''s lymphoma	18698080	CNVD
Ovarian cancer	21720365	CNVD
Prostate cancer	16573809	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21785460	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Cancer	20164920	CNVD
Breast cancer	21364760	CNVD
Chordoma	21602918	CNVD
Kartagener syndrome	16639409	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Follicular lymphoma	18703704	CNVD
Mental retardation	17621639	CNVD
Hypoplastic	20877625	CNVD
Hypotonia	20877625	CNVD
Mental retardation	20877625	CNVD
Microcephaly	20877625	CNVD
brachycephaly	20877625	CNVD
epicanthic folds	20877625	CNVD
micrognathia	20877625	CNVD
Urothelial carcinoma	21177765	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Salivary gland tumor	18059337	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Metastatic melanoma	18483359	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Epilepsy	22083797	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:117805200-117851200	Weak transcription	Right Ventricle	heart
2	chr6:117816400-117841400	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr6:117819800-117868800	Weak transcription	Spleen	Spleen
4	chr6:117821600-117868800	Weak transcription	Rectal Smooth Muscle	rectum
5	chr6:117821800-117843600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr6:117823200-117868800	Weak transcription	Stomach Smooth Muscle	stomach
7	chr6:117823200-117869600	Weak transcription	Small Intestine	intestine
8	chr6:117826200-117842600	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr6:117826200-117844800	Weak transcription	Fetal Muscle Trunk	muscle
10	chr6:117826400-117859800	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr6:117827200-117841600	Weak transcription	Adipose Nuclei	Adipose
12	chr6:117827600-117851200	Weak transcription	Lung	lung
13	chr6:117828000-117841400	Weak transcription	Left Ventricle	heart
14	chr6:117828000-117866200	Weak transcription	Esophagus	oesophagus
15	chr6:117828200-117841000	Weak transcription	Duodenum Mucosa	Duodenum
16	chr6:117828200-117851000	Weak transcription	Right Atrium	heart
17	chr6:117828400-117851600	Weak transcription	NHLF	lung
18	chr6:117832400-117841600	Weak transcription	HUVEC	blood vessel
19	chr6:117833000-117839200	Enhancers	HepG2	liver
20	chr6:117833600-117838000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr6:117833600-117851600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr6:117833800-117847000	Weak transcription	NHEK	skin
23	chr6:117833800-117849200	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr6:117834000-117838400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr6:117834000-117838400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr6:117834000-117838400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr6:117834000-117840800	Weak transcription	HMEC	breast
28	chr6:117834400-117841400	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr6:117834400-117852800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr6:117834400-117861800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr6:117834400-117863600	Weak transcription	Gastric	stomach
32	chr6:117834600-117839800	Enhancers	Fetal Intestine Large	intestine
33	chr6:117834800-117841400	Weak transcription	Fetal Stomach	stomach
34	chr6:117834800-117841600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr6:117834800-117846600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr6:117834800-117851000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr6:117834800-117857400	Weak transcription	Aorta	Aorta
38	chr6:117834800-117860600	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr6:117835000-117837800	Enhancers	Fetal Intestine Small	intestine
40	chr6:117835000-117841600	Weak transcription	Fetal Lung	lung
41	chr6:117835200-117851600	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr6:117835200-117868800	Weak transcription	Colonic Mucosa	Colon
43	chr6:117835400-117868800	Weak transcription	Psoas Muscle	Psoas
44	chr6:117835600-117841000	Weak transcription	HSMM	muscle
45	chr6:117835600-117852600	Weak transcription	HSMMtube	muscle
46	chr6:117835800-117838600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr6:117835800-117841000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr6:117835800-117857600	Weak transcription	Placenta	Placenta
49	chr6:117836600-117837800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr6:117836600-117838600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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