Variant report

Variant	esv3437086
Chromosome Location	chr6:38132849-38135472
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:38129827..38133473-chr6:38138909..38141756,3	K562	blood:
2	chr6:38129805..38132661-chr6:38134608..38136231,2	K562	blood:
3	chr22:50712906..50713463-chr6:38133425..38133925,2	MCF-7	breast:
4	chr6:38134651..38137004-chr6:38141611..38143473,2	K562	blood:

Extended variants
information (count: 128 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:128 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145254628	chr6:38132850-38132851	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs566558663	chr6:38132851-38132852	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs535121012	chr6:38132913-38132914	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs117827188	chr6:38132918-38132919	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs560056205	chr6:38132947-38132948	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs575187852	chr6:38132983-38132984	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs550660906	chr6:38133020-38133021	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs11752799	chr6:38133030-38133031	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs140153392	chr6:38133040-38133041	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs189503651	chr6:38133067-38133068	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs201569661	chr6:38133068-38133069	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs200478383	chr6:38133087-38133088	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs541398237	chr6:38133091-38133092	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs542879428	chr6:38133109-38133110	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs145673351	chr6:38133115-38133116	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs181977033	chr6:38133188-38133189	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs112583125	chr6:38133192-38133193	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs376755422	chr6:38133216-38133217	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs552733325	chr6:38133229-38133230	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs114444615	chr6:38133255-38133256	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs562843623	chr6:38133277-38133278	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs185000001	chr6:38133289-38133290	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs535410007	chr6:38133301-38133302	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs552064263	chr6:38133306-38133307	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs555261737	chr6:38133313-38133314	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs370614007	chr6:38133334-38133335	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs547961243	chr6:38133338-38133339	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs566479528	chr6:38133341-38133342	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs13202834	chr6:38133356-38133357	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs377248832	chr6:38133383-38133384	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs189578857	chr6:38133398-38133399	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs78655347	chr6:38133411-38133412	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs375375184	chr6:38133421-38133422	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs557719111	chr6:38133459-38133460	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs540091835	chr6:38133538-38133539	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs376438314	chr6:38133567-38133568	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs553912806	chr6:38133585-38133586	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs574206832	chr6:38133621-38133622	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs543111335	chr6:38133628-38133629	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs562882287	chr6:38133642-38133643	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs576459613	chr6:38133643-38133644	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs545383321	chr6:38133659-38133660	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs201405038	chr6:38133667-38133668	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs565481227	chr6:38133669-38133670	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs181548847	chr6:38133706-38133707	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs547701558	chr6:38133730-38133731	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs113362622	chr6:38133732-38133733	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs370870628	chr6:38133763-38133764	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs114649633	chr6:38133764-38133765	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs528970615	chr6:38133765-38133766	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Follicular lymphoma	20505157	CNVD
Glioblastoma multiforme	21080181	CNVD
Ewing''s sarcoma	21437220	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Melanoma	18172304	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Hepatocellular carcinoma	16750200	CNVD
Autism	22495311	CNVD
Cancer	16790693	CNVD
Cervical cancer	21062161	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Gastric cancer	17908304	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Cleidocranial dysplasia	18696259	CNVD
Holoprosencephaly	21359414	CNVD
Liposarcoma	21253554	CNVD
Uveal melanoma	20484589	CNVD
Fibroblasts	20926602	CNVD
Osteosarcoma	16790693	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
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Lung cancer	18438408	CNVD
Glioblastoma multiforme	21138945	CNVD
Breast cancer	21364760	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Lung cancer	19153074	CNVD
Ovarian cancer	21720365	CNVD
Melanoma	21693616	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	21062444	CNVD
Breast cancer	16397240	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Osteosarcoma	21197465	CNVD
Gastric cancer	24379144	CNVD
Neuroblastoma	18923191	CNVD
abnormal development	18461090	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:38091400-38141800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr6:38111800-38138200	Weak transcription	Fetal Brain Female	brain
3	chr6:38112400-38138200	Weak transcription	Fetal Brain Male	brain
4	chr6:38113200-38134400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr6:38113200-38138000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr6:38114400-38138200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr6:38117600-38137200	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr6:38119800-38134800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr6:38121000-38159600	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr6:38121200-38136400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr6:38121400-38136600	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr6:38121400-38141000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr6:38121600-38137800	Weak transcription	Colonic Mucosa	Colon
14	chr6:38121800-38138000	Weak transcription	Dnd41	blood
15	chr6:38121800-38153600	Weak transcription	Primary B cells from peripheral blood	blood
16	chr6:38122000-38137600	Weak transcription	Esophagus	oesophagus
17	chr6:38122200-38134200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr6:38122800-38135800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr6:38123200-38136800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr6:38123200-38153200	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr6:38123400-38155400	Weak transcription	Aorta	Aorta
22	chr6:38123400-38157000	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr6:38123400-38176800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr6:38123600-38138400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr6:38123600-38140800	Weak transcription	Placenta	Placenta
26	chr6:38123600-38144200	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr6:38123600-38153000	Weak transcription	Primary B cells from cord blood	blood
28	chr6:38123800-38141400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr6:38123800-38151200	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr6:38124000-38152200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr6:38124200-38137000	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr6:38124200-38151800	Weak transcription	Brain Anterior Caudate	brain
33	chr6:38124400-38136200	Weak transcription	Fetal Lung	lung
34	chr6:38124400-38144200	Weak transcription	Primary hematopoietic stem cells	blood
35	chr6:38127400-38137800	Weak transcription	Gastric	stomach
36	chr6:38127400-38141000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr6:38127600-38140600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr6:38128800-38133600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr6:38129200-38145600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr6:38129400-38136400	Weak transcription	Brain Germinal Matrix	brain
41	chr6:38129400-38137000	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr6:38129400-38141200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr6:38129400-38141200	Weak transcription	Lung	lung
44	chr6:38129400-38144600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr6:38129600-38137800	Weak transcription	Stomach Smooth Muscle	stomach
46	chr6:38129600-38138200	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr6:38129600-38141200	Weak transcription	Primary T cells from cord blood	blood
48	chr6:38130000-38135400	Weak transcription	Fetal Intestine Small	intestine
49	chr6:38130000-38144400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr6:38130200-38140800	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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