Variant report

Variant	nsv349483
Chromosome Location	chr6:4029268-4029580
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	chr6:4017127..4021712-chr6:4024142..4029441,9	MCF-7	breast:
2	chr6:4028831..4031287-chr6:4036762..4038372,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000112739	chromatin interactions
ENSG00000272248	chromatin interactions
ENSG00000230648	chromatin interactions

Extended variants
information (count: 13 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146547591	chr6:4029271-4029272	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs182638575	chr6:4029297-4029298	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs117441915	chr6:4029308-4029309	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs575859985	chr6:4029341-4029342	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs72841266	chr6:4029349-4029350	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs562056320	chr6:4029373-4029374	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs557176005	chr6:4029459-4029460	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs527587997	chr6:4029460-4029461	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs114754834	chr6:4029472-4029473	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs112595963	chr6:4029507-4029508	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs564027501	chr6:4029509-4029510	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs375594342	chr6:4029574-4029575	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs533074919	chr6:4029577-4029578	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
Breast cancer	21364760	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Gastric cancer	16891809	CNVD
Ovarian cancer	21781307	CNVD
Autism	22495311	CNVD
Autism	21448237	CNVD
Cancer	20164919	CNVD
Myelofibrosis	22110671	CNVD
Uveal melanoma	20484589	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

Chromatin state (count:130 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:4022400-4043400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr6:4022600-4049400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr6:4023000-4032000	Weak transcription	Fetal Muscle Trunk	muscle
4	chr6:4023000-4038600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr6:4023000-4063600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr6:4023200-4031800	Weak transcription	Placenta	Placenta
7	chr6:4023200-4034000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr6:4023200-4035600	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr6:4023200-4043400	Weak transcription	Aorta	Aorta
10	chr6:4023200-4064000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr6:4023400-4038800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr6:4023400-4040600	Weak transcription	Fetal Brain Male	brain
13	chr6:4023400-4071600	Weak transcription	Stomach Mucosa	stomach
14	chr6:4023600-4031000	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr6:4023800-4030600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr6:4023800-4031200	Weak transcription	HUVEC	blood vessel
17	chr6:4023800-4032000	Weak transcription	Fetal Lung	lung
18	chr6:4023800-4032200	Weak transcription	Colonic Mucosa	Colon
19	chr6:4023800-4033600	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr6:4023800-4037400	Weak transcription	Fetal Brain Female	brain
21	chr6:4023800-4037600	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr6:4023800-4067000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr6:4024000-4031400	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr6:4024000-4031600	Weak transcription	NH-A	brain
25	chr6:4024000-4031800	Weak transcription	HMEC	breast
26	chr6:4024000-4035600	Weak transcription	NHLF	lung
27	chr6:4024000-4036400	Weak transcription	Stomach Smooth Muscle	stomach
28	chr6:4024000-4037600	Weak transcription	HSMMtube	muscle
29	chr6:4024200-4031000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr6:4024200-4031400	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr6:4024200-4037000	Weak transcription	Right Atrium	heart
32	chr6:4024200-4040200	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr6:4024400-4031800	Weak transcription	Primary neutrophils fromperipheralblood	blood
34	chr6:4024400-4035800	Weak transcription	Thymus	Thymus
35	chr6:4024600-4031400	Weak transcription	Duodenum Mucosa	Duodenum
36	chr6:4024600-4031400	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr6:4024600-4031600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr6:4024600-4032000	Weak transcription	Fetal Muscle Leg	muscle
39	chr6:4024600-4036600	Weak transcription	Spleen	Spleen
40	chr6:4024600-4040200	Weak transcription	Esophagus	oesophagus
41	chr6:4024600-4059200	Strong transcription	Fetal Thymus	thymus
42	chr6:4025000-4029800	Weak transcription	Pancreas	Pancrea
43	chr6:4025200-4031800	Weak transcription	Liver	Liver
44	chr6:4025200-4039200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr6:4025400-4037600	Weak transcription	Rectal Smooth Muscle	rectum
46	chr6:4025800-4031600	Weak transcription	Brain Germinal Matrix	brain
47	chr6:4025800-4034000	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr6:4026000-4032000	Weak transcription	Adipose Nuclei	Adipose
49	chr6:4026000-4032800	Weak transcription	Brain Anterior Caudate	brain
50	chr6:4026200-4029800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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