Variant report

Variant	esv3409017
Chromosome Location	chr6:5723604-5724486
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:5721926..5724566-chr6:5725553..5727803,3	K562	blood:

Extended variants
information (count: 50 )
Associated
traits (count: 98 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147632564	chr6:5723605-5723606	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs575374040	chr6:5723612-5723613	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs370346564	chr6:5723613-5723614	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs112269109	chr6:5723617-5723618	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs544282971	chr6:5723630-5723631	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs186899786	chr6:5723652-5723653	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs191744881	chr6:5723671-5723672	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs553038963	chr6:5723706-5723707	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs574406661	chr6:5723723-5723724	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs542031638	chr6:5723732-5723733	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs563111522	chr6:5723747-5723748	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs575190015	chr6:5723792-5723793	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs545672350	chr6:5723830-5723831	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs564189815	chr6:5723846-5723847	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs183480125	chr6:5723874-5723875	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs189177944	chr6:5723878-5723879	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs368441277	chr6:5723996-5723997	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs562233245	chr6:5724013-5724014	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs192805309	chr6:5724046-5724047	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs185526298	chr6:5724048-5724049	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs530338271	chr6:5724052-5724053	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs546841220	chr6:5724072-5724073	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs569451523	chr6:5724075-5724076	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs540180694	chr6:5724128-5724129	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs552091217	chr6:5724131-5724132	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs7746937	chr6:5724156-5724157	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs532804943	chr6:5724165-5724166	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs368942574	chr6:5724177-5724178	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs142284904	chr6:5724187-5724188	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs557550362	chr6:5724198-5724199	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs200443192	chr6:5724207-5724208	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs144307868	chr6:5724208-5724209	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs373331897	chr6:5724213-5724214	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs12206765	chr6:5724214-5724215	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs552669740	chr6:5724217-5724218	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs190781990	chr6:5724221-5724222	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs535186789	chr6:5724253-5724254	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs552244495	chr6:5724256-5724257	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs557331580	chr6:5724272-5724273	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs575094146	chr6:5724297-5724298	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs545733580	chr6:5724324-5724325	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs138868951	chr6:5724326-5724327	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs7747282	chr6:5724344-5724345	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs540637774	chr6:5724361-5724362	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs150338750	chr6:5724371-5724372	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs561917740	chr6:5724382-5724383	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs529415851	chr6:5724438-5724439	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs181659377	chr6:5724445-5724446	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs114493240	chr6:5724467-5724468	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs548290142	chr6:5724472-5724473	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

Disease	PMID	Source
Developmental delay	19490664	CNVD
Cancer	21183584	CNVD
Multiple Epiphyseal Dysplasia	20877625	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Glaucoma	18694899	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	CNVD
Cancer	20164920	CNVD
Colorectal cancer	21297112	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
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
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Myelodysplastic syndrome	21251322	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Bladder cancer	21909424	CNVD
Multiple myeloma	17550852	CNVD
Ewing''s sarcoma	17952124	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Gastric cancer	16891809	CNVD
Ovarian cancer	21781307	CNVD
Autism	22495311	CNVD
Autism	21448237	CNVD
Cancer	20164919	CNVD
Melanoma	18172304	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	22844521	CNVD
HIV/AIDS	22844521	CNVD
Ovarian cancer	22844521	CNVD
Prostate cancer	22844521	CNVD
Psoriasis	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21552322	CNVD
Immune disease	21076436	CNVD
Autoimmune disease	19135723	CNVD
Systemic lupus erythematosus	17953491	CNVD
Recurrent Infections	22737222	CNVD
Systemic lupus erythematosus	21904924	CNVD
Ependymoma	19289631	CNVD
small cell lung cancer	20016488	CNVD
Gestational infection	22844521	CNVD
Head circumference	22844521	CNVD
Infertility	22844521	CNVD
Recurrent birth weight diabetes	22844521	CNVD
Obesity	22844521	CNVD
Recurrent pregnancy loss	22844521	CNVD
Intellectual disability	21811512	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Nasopharyngeal cancer	22815911	CNVD
dysmorphism	22105932	CNVD
psychomotor delay	22105932	CNVD
Ovarian cancer	19193619	CNVD
Osteosarcoma	16790693	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:5707600-5724000	Weak transcription	Thymus	Thymus
2	chr6:5717400-5729000	Weak transcription	Fetal Stomach	stomach
3	chr6:5717600-5729000	Weak transcription	Fetal Lung	lung
4	chr6:5717600-5729600	Weak transcription	Brain Substantia Nigra	brain
5	chr6:5717800-5725600	Weak transcription	Fetal Intestine Small	intestine
6	chr6:5718000-5729200	Weak transcription	NHEK	skin
7	chr6:5719000-5723800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr6:5722400-5724000	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr6:5722400-5724600	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr6:5722600-5723800	Enhancers	Primary B cells from peripheral blood	blood
11	chr6:5722800-5723800	Enhancers	Primary B cells from cord blood	blood
12	chr6:5722800-5724800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr6:5722800-5724800	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr6:5722800-5724800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr6:5722800-5725000	Enhancers	H1 Cell Line	embryonic stem cell
16	chr6:5722800-5725000	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr6:5722800-5725000	Enhancers	Placenta	Placenta
18	chr6:5723000-5723800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr6:5723000-5724000	Enhancers	Primary hematopoietic stem cells	blood
20	chr6:5723000-5724000	Weak transcription	Fetal Muscle Trunk	muscle
21	chr6:5723000-5724200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr6:5723000-5744200	Weak transcription	Right Ventricle	heart
23	chr6:5723200-5723800	Enhancers	GM12878-XiMat	blood
24	chr6:5723200-5724400	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr6:5723200-5724400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr6:5723200-5725000	Enhancers	Fetal Muscle Leg	muscle
27	chr6:5723400-5723800	Enhancers	Primary T cells from cord blood	blood
28	chr6:5723400-5723800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr6:5723400-5724600	Enhancers	H9 Cell Line	embryonic stem cell
30	chr6:5723400-5724600	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr6:5723600-5723800	Enhancers	Duodenum Mucosa	Duodenum
32	chr6:5723600-5723800	Enhancers	Lung	lung
33	chr6:5723600-5724000	Enhancers	Rectal Mucosa Donor 29	rectum
34	chr6:5723600-5724000	Weak transcription	Spleen	Spleen
35	chr6:5723600-5724200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr6:5723600-5724200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr6:5723600-5724200	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr6:5723600-5724200	Enhancers	Primary T helper cells fromperipheralblood	blood
39	chr6:5723600-5724200	Enhancers	Brain Germinal Matrix	brain
40	chr6:5723600-5724200	Enhancers	Fetal Thymus	thymus
41	chr6:5723600-5724400	Enhancers	Primary T cells fromperipheralblood	blood
42	chr6:5723600-5724600	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr6:5723600-5724600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr6:5723600-5724600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr6:5723600-5724600	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr6:5723600-5724800	Enhancers	iPS-15b Cell Line	embryonic stem cell
47	chr6:5723600-5724800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr6:5723600-5725000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr6:5723600-5725200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
50	chr6:5723800-5724000	Enhancers	Primary neutrophils fromperipheralblood	blood

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