Variant report

Variant	esv2762583
Chromosome Location	chr6:23269960-23288544
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:23281591..23284357-chr6:23287550..23289419,2	MCF-7	breast:
2	chr6:23281591..23284357-chr6:23287550..23289419,2	MCF-7	breast:
3	chr6:23273517..23276293-chr6:23276561..23278146,2	MCF-7	breast:
4	chr6:23273517..23276293-chr6:23276561..23278146,2	MCF-7	breast:
5	chr6:23273300..23275718-chr6:23276440..23278795,2	K562	blood:
6	chr6:23273300..23275718-chr6:23276440..23278795,2	K562	blood:

Extended variants
information (count: 308 )
Associated
traits (count: 108 )

Variant overlapped rSNPs/rCNVs (count:308 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10080544	chr6:23269960-23269961	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs540016690	chr6:23269968-23269969	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs558834146	chr6:23269993-23269994	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs576677180	chr6:23269996-23269997	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs543811788	chr6:23270009-23270010	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs562133425	chr6:23270051-23270052	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs532734875	chr6:23270068-23270069	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs193074105	chr6:23270086-23270087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs541886332	chr6:23270110-23270111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs551476677	chr6:23270111-23270112	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs559958468	chr6:23270146-23270147	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs368243775	chr6:23270232-23270233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs150544049	chr6:23270240-23270241	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs546832653	chr6:23270254-23270255	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs571979762	chr6:23270268-23270269	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs532847886	chr6:23270300-23270301	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs139448514	chr6:23270308-23270309	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs74725510	chr6:23270339-23270340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs185085338	chr6:23270366-23270367	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs555058611	chr6:23270386-23270387	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs566823011	chr6:23270394-23270395	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs533992209	chr6:23270470-23270471	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs549353528	chr6:23270473-23270474	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs528314747	chr6:23270475-23270476	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs558424284	chr6:23270505-23270506	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs188277620	chr6:23270512-23270513	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs544097848	chr6:23270515-23270516	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs555766788	chr6:23270539-23270540	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs574077935	chr6:23270602-23270603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs567812797	chr6:23270617-23270618	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs541434197	chr6:23270654-23270655	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs560198451	chr6:23270661-23270662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs191240604	chr6:23270664-23270665	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs140183353	chr6:23270669-23270670	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs371089138	chr6:23270742-23270743	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs183833614	chr6:23270743-23270744	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs189438454	chr6:23270762-23270763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs563144226	chr6:23270790-23270791	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs530126392	chr6:23270793-23270794	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs34832823	chr6:23270801-23270802	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs566963066	chr6:23270829-23270830	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs534022794	chr6:23270844-23270845	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs143949782	chr6:23270857-23270858	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs10456029	chr6:23270861-23270862	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs146844290	chr6:23270949-23270950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs547519469	chr6:23272401-23272402	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs28445858	chr6:23272497-23272498	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs55759606	chr6:23272532-23272533	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs148223117	chr6:23272554-23272555	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs62400186	chr6:23272574-23272575	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:108)

Disease	PMID	Source
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	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
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
Breast cancer	17133270	CNVD
Autism	22495311	CNVD
Burkitt''s lymphoma	19759907	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	16790693	CNVD
Breast cancer	22032731	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21785460	CNVD
Bladder cancer	16790693	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Retinoblastoma	16790693	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial cell carcinoma	18451213	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Ovarian cancer	20844748	CNVD
Developmental delay	19490664	CNVD
T-cell lymphomas	19863542	CNVD
Urothelial carcinoma	18382360	CNVD
Lung cancer	19153074	CNVD
Breast cancer	21364760	CNVD
Cancer	21183584	CNVD
Tetralogy of Fallot	22912587	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:23269600-23270200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr6:23269600-23271000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr6:23270400-23270600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr6:23272400-23273000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr6:23275400-23275600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr6:23276400-23277000	Enhancers	Brain Germinal Matrix	brain
7	chr6:23276600-23277000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr6:23276600-23277200	Enhancers	Fetal Kidney	kidney
9	chr6:23277000-23277400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr6:23277000-23278000	Weak transcription	Brain Germinal Matrix	brain
11	chr6:23277200-23277800	Weak transcription	Fetal Kidney	kidney
12	chr6:23277200-23278600	Enhancers	Brain Cingulate Gyrus	brain
13	chr6:23277400-23278400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr6:23277400-23278600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr6:23277400-23279400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr6:23277600-23278800	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr6:23277800-23278600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr6:23277800-23278600	Enhancers	Fetal Kidney	kidney
19	chr6:23278000-23278400	Enhancers	Brain Germinal Matrix	brain
20	chr6:23278000-23278400	Enhancers	Brain Inferior Temporal Lobe	brain
21	chr6:23278000-23278800	Enhancers	Brain Anterior Caudate	brain
22	chr6:23278200-23278600	Enhancers	Brain Angular Gyrus	brain
23	chr6:23278400-23281200	Weak transcription	Brain Germinal Matrix	brain
24	chr6:23278400-23282000	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr6:23278400-23282400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr6:23278600-23281200	Weak transcription	Brain Angular Gyrus	brain
27	chr6:23278600-23282000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr6:23279400-23282000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr6:23280600-23281200	Enhancers	Primary neutrophils fromperipheralblood	blood
30	chr6:23280800-23281400	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr6:23281000-23282800	Enhancers	Fetal Muscle Leg	muscle
32	chr6:23281200-23281400	Enhancers	Brain Germinal Matrix	brain
33	chr6:23281200-23282600	Enhancers	Brain Angular Gyrus	brain
34	chr6:23281400-23282000	Weak transcription	Brain Germinal Matrix	brain
35	chr6:23282000-23282600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr6:23282000-23282800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr6:23282000-23282800	Enhancers	Brain Germinal Matrix	brain
38	chr6:23282000-23282800	Enhancers	Brain Inferior Temporal Lobe	brain
39	chr6:23282400-23282800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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