Variant report

Variant	esv2526594
Chromosome Location	chr6:11574372-11575846
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:11144244..11145626-chr6:11575493..11576427,5	K562	blood:
2	chr6:10954509..10955417-chr6:11575675..11576376,2	K562	blood:
3	chr6:11143996..11145216-chr6:11575436..11576352,4	MCF-7	breast:
4	chr6:11538203..11540393-chr6:11574176..11577432,3	MCF-7	breast:
5	chr6:11241627..11242532-chr6:11575629..11576424,3	K562	blood:
6	chr6:10954692..10955390-chr6:11575623..11576487,3	MCF-7	breast:
7	chr6:11496202..11496727-chr6:11575389..11575987,3	K562	blood:
8	chr6:11570134..11572268-chr6:11573159..11575300,2	MCF-7	breast:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TMEM170B-3	chr6:11574881-11575000	l_3112_chr6:11525493-11597341_testes

No data

Variant related genes	Relation type
ENSG00000205269	chromatin interactions

Extended variants
information (count: 48 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:48 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9394154	chr6:11574374-11574375	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs191697032	chr6:11574394-11574395	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs564964334	chr6:11574463-11574464	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs527568855	chr6:11574480-11574481	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs540703760	chr6:11574491-11574492	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs182377026	chr6:11574522-11574523	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs529995855	chr6:11574525-11574526	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs146904708	chr6:11574526-11574527	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs570105715	chr6:11574643-11574644	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs532534323	chr6:11574647-11574648	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs186423516	chr6:11574656-11574657	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs566190332	chr6:11574666-11574667	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs535234244	chr6:11574683-11574684	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs376982182	chr6:11574703-11574704	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs555263433	chr6:11574704-11574705	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs189551212	chr6:11574777-11574778	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs9380370	chr6:11574865-11574866	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs182212896	chr6:11574872-11574873	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs555912721	chr6:11574875-11574876	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs541054607	chr6:11574911-11574912	Weak transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
21	rs369955205	chr6:11574912-11574913	Weak transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
22	rs186899837	chr6:11575016-11575017	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs544814448	chr6:11575134-11575135	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs558710691	chr6:11575152-11575153	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs550453595	chr6:11575227-11575228	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs375289307	chr6:11575288-11575289	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs540836161	chr6:11575307-11575308	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs564647193	chr6:11575325-11575326	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs55902701	chr6:11575361-11575362	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs369970337	chr6:11575365-11575366	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs543786506	chr6:11575488-11575489	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs373547357	chr6:11575523-11575524	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs28690428	chr6:11575532-11575533	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs191484245	chr6:11575623-11575624	Genic enhancers Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs201558917	chr6:11575626-11575627	Genic enhancers Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs563574282	chr6:11575629-11575630	Genic enhancers Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs373154125	chr6:11575651-11575652	Genic enhancers Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs376163897	chr6:11575652-11575653	Genic enhancers Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs371108164	chr6:11575677-11575678	Genic enhancers Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs564099336	chr6:11575722-11575723	Genic enhancers Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs199632690	chr6:11575735-11575736	Genic enhancers Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs374506741	chr6:11575755-11575756	Genic enhancers Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs138921665	chr6:11575759-11575760	Genic enhancers Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs375511157	chr6:11575785-11575786	Genic enhancers Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs367833092	chr6:11575809-11575810	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs528665181	chr6:11575811-11575812	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs201989818	chr6:11575834-11575835	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs548823800	chr6:11575846-11575847	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:98)

Disease	PMID	Source
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
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Multiple myeloma	17550852	CNVD
Ewing''s sarcoma	17952124	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
Chronic lymphocytic leukemia	21546498	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Nasopharyngeal cancer	22815911	CNVD
Osteosarcoma	16790693	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Ovarian cancer	21720365	CNVD
Melanoma	20688739	CNVD
Cancer	21183584	CNVD
Acute myeloid leukemia	18000384	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21364760	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Bladder cancer	21909424	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Burkitt''s lymphoma	19759907	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:11557000-11575600	Weak transcription	Spleen	Spleen
2	chr6:11557200-11575400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr6:11563400-11575600	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr6:11565200-11575400	Weak transcription	Right Ventricle	heart
5	chr6:11565800-11575400	Weak transcription	Duodenum Mucosa	Duodenum
6	chr6:11567000-11579800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr6:11567400-11575400	Weak transcription	A549	lung
8	chr6:11567600-11575400	Weak transcription	Primary hematopoietic stem cells	blood
9	chr6:11567600-11575600	Weak transcription	Brain Substantia Nigra	brain
10	chr6:11567600-11575600	Weak transcription	Left Ventricle	heart
11	chr6:11567600-11575600	Weak transcription	Stomach Smooth Muscle	stomach
12	chr6:11567600-11575800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr6:11567600-11577400	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr6:11567600-11581400	Weak transcription	Fetal Brain Female	brain
15	chr6:11567600-11582600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr6:11567600-11586200	Weak transcription	Fetal Intestine Small	intestine
17	chr6:11567600-11586400	Weak transcription	Fetal Stomach	stomach
18	chr6:11567600-11586600	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr6:11567800-11575400	Weak transcription	Adipose Nuclei	Adipose
20	chr6:11567800-11575600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr6:11567800-11575600	Weak transcription	Brain Anterior Caudate	brain
22	chr6:11567800-11575600	Weak transcription	Brain Hippocampus Middle	brain
23	chr6:11567800-11575600	Weak transcription	HepG2	liver
24	chr6:11567800-11580000	Weak transcription	Primary B cells from cord blood	blood
25	chr6:11567800-11584200	Weak transcription	HSMMtube	muscle
26	chr6:11567800-11586400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr6:11568000-11577400	Weak transcription	Brain Cingulate Gyrus	brain
28	chr6:11568000-11586200	Weak transcription	Liver	Liver
29	chr6:11568000-11586600	Weak transcription	Brain Angular Gyrus	brain
30	chr6:11568200-11575400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr6:11568200-11575800	Weak transcription	Primary T cells from cord blood	blood
32	chr6:11568200-11578200	Weak transcription	Fetal Muscle Leg	muscle
33	chr6:11568200-11578600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr6:11568600-11586800	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr6:11569400-11574800	Strong transcription	Primary monocytes fromperipheralblood	blood
36	chr6:11570000-11575400	Weak transcription	GM12878-XiMat	blood
37	chr6:11571600-11575400	Weak transcription	Gastric	stomach
38	chr6:11571800-11575600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr6:11571800-11586600	Weak transcription	Ovary	ovary
40	chr6:11572400-11575800	Weak transcription	Dnd41	blood
41	chr6:11573000-11575600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr6:11573200-11575600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr6:11573400-11574400	Enhancers	Pancreatic Islets	Pancreatic Islet
44	chr6:11574000-11574800	Weak transcription	Monocytes-CD14+_RO01746	blood
45	chr6:11574000-11575400	Weak transcription	Primary neutrophils fromperipheralblood	blood
46	chr6:11574000-11575600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr6:11574400-11578000	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr6:11574800-11575400	Enhancers	Monocytes-CD14+_RO01746	blood
49	chr6:11574800-11575600	Genic enhancers	Primary monocytes fromperipheralblood	blood
50	chr6:11575400-11575600	Enhancers	Primary neutrophils fromperipheralblood	blood

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