Variant report

Variant	esv3363730
Chromosome Location	chr6:38136674-38138722
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:38138220..38140617-chr6:38142892..38144834,2	K562	blood:
2	chr6:38134651..38137004-chr6:38141611..38143473,2	K562	blood:
3	chr6:38137479..38141029-chr6:38144999..38147856,3	K562	blood:
4	chr6:38137479..38141029-chr6:38143334..38147856,5	K562	blood:
5	chr6:38138513..38140843-chr6:38152378..38154915,2	K562	blood:

Extended variants
information (count: 107 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:107 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs76931875	chr6:38136684-38136685	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs529587062	chr6:38136724-38136725	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs144411848	chr6:38136725-38136726	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs72853658	chr6:38136736-38136737	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs877527	chr6:38136784-38136785	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs556827070	chr6:38136787-38136788	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs375590531	chr6:38136793-38136794	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs528833555	chr6:38136794-38136795	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs552532157	chr6:38136814-38136815	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs572822521	chr6:38136835-38136836	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs541687606	chr6:38136870-38136871	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs555153527	chr6:38136912-38136913	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs575297974	chr6:38136923-38136924	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs370107907	chr6:38136928-38136929	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs57243891	chr6:38136938-38136939	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs183923709	chr6:38136966-38136967	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs368565961	chr6:38136994-38136995	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs148712779	chr6:38137036-38137037	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs560482786	chr6:38137157-38137158	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs529627447	chr6:38137159-38137160	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs142288024	chr6:38137167-38137168	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs150830364	chr6:38137182-38137183	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs73423538	chr6:38137183-38137184	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs551938624	chr6:38137226-38137227	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs77385487	chr6:38137228-38137229	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs564170546	chr6:38137254-38137255	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs143857839	chr6:38137256-38137257	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs112398564	chr6:38137259-38137260	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs546205227	chr6:38137260-38137261	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs566092238	chr6:38137285-38137286	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs535366399	chr6:38137292-38137293	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs571327852	chr6:38137315-38137316	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs575484942	chr6:38137333-38137334	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs189434866	chr6:38137334-38137335	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs557911957	chr6:38137344-38137345	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs578048382	chr6:38137347-38137348	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs540694233	chr6:38137348-38137349	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs144302295	chr6:38137360-38137361	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs370184631	chr6:38137377-38137378	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs116053908	chr6:38137380-38137381	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs78347974	chr6:38137392-38137393	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs563074666	chr6:38137416-38137417	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs532011988	chr6:38137439-38137440	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs551711968	chr6:38137467-38137468	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs565443707	chr6:38137493-38137494	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs532896197	chr6:38137494-38137495	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs115608390	chr6:38137502-38137503	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs566224898	chr6:38137524-38137525	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs535119575	chr6:38137528-38137529	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs148610115	chr6:38137540-38137541	Weak transcription Enhancers Genic enhancers	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:161 , 50 per page) page: 1 2 3 4

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	chr6:38113200-38138000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr6:38114400-38138200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr6:38117600-38137200	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr6:38121000-38159600	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr6:38121400-38141000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr6:38121600-38137800	Weak transcription	Colonic Mucosa	Colon
10	chr6:38121800-38138000	Weak transcription	Dnd41	blood
11	chr6:38121800-38153600	Weak transcription	Primary B cells from peripheral blood	blood
12	chr6:38122000-38137600	Weak transcription	Esophagus	oesophagus
13	chr6:38123200-38136800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr6:38123200-38153200	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr6:38123400-38155400	Weak transcription	Aorta	Aorta
16	chr6:38123400-38157000	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr6:38123400-38176800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr6:38123600-38138400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr6:38123600-38140800	Weak transcription	Placenta	Placenta
20	chr6:38123600-38144200	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr6:38123600-38153000	Weak transcription	Primary B cells from cord blood	blood
22	chr6:38123800-38141400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr6:38123800-38151200	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr6:38124000-38152200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr6:38124200-38137000	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr6:38124200-38151800	Weak transcription	Brain Anterior Caudate	brain
27	chr6:38124400-38144200	Weak transcription	Primary hematopoietic stem cells	blood
28	chr6:38127400-38137800	Weak transcription	Gastric	stomach
29	chr6:38127400-38141000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr6:38127600-38140600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr6:38129200-38145600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr6:38129400-38137000	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr6:38129400-38141200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr6:38129400-38141200	Weak transcription	Lung	lung
35	chr6:38129400-38144600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr6:38129600-38137800	Weak transcription	Stomach Smooth Muscle	stomach
37	chr6:38129600-38138200	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr6:38129600-38141200	Weak transcription	Primary T cells from cord blood	blood
39	chr6:38130000-38144400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr6:38130200-38140800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr6:38130600-38141200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr6:38131200-38143800	Weak transcription	Thymus	Thymus
43	chr6:38131600-38137000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr6:38131600-38137600	Weak transcription	Spleen	Spleen
45	chr6:38131800-38140000	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr6:38131800-38140600	Weak transcription	Left Ventricle	heart
47	chr6:38131800-38167800	Weak transcription	Right Atrium	heart
48	chr6:38132600-38137000	Weak transcription	Duodenum Mucosa	Duodenum
49	chr6:38132600-38137200	Weak transcription	Pancreas	Pancrea
50	chr6:38132600-38141200	Weak transcription	Ovary	ovary

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