Variant report

Variant	nsv933252
Chromosome Location	chr6:15524095-15524569
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:15513759..15516208-chr6:15524311..15526503,2	K562	blood:
2	chr6:15475822..15477498-chr6:15521346..15524316,2	K562	blood:
3	chr19:3098797..3100403-chr6:15522052..15525012,2	MCF-7	breast:
4	chr6:15522061..15524909-chr6:15526952..15529207,2	MCF-7	breast:
5	chr6:15522144..15525319-chr6:15525407..15528669,4	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 112 )

Variant overlapped rSNPs/rCNVs (count:33 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539159523	chr6:15524132-15524133	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs374546569	chr6:15524151-15524152	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs368359659	chr6:15524153-15524154	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs566017280	chr6:15524170-15524171	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs543529188	chr6:15524189-15524190	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs182785039	chr6:15524201-15524202	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs534705282	chr6:15524205-15524206	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs558659485	chr6:15524237-15524238	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs554833802	chr6:15524276-15524277	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs141211059	chr6:15524303-15524304	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs576988657	chr6:15524376-15524377	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs557564143	chr6:15524377-15524378	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs78330275	chr6:15524388-15524389	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs528964332	chr6:15524390-15524391	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs545853290	chr6:15524405-15524406	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs559187979	chr6:15524408-15524409	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs187322158	chr6:15524420-15524421	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs541890819	chr6:15524437-15524438	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs561962619	chr6:15524457-15524458	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs530854989	chr6:15524463-15524464	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs742106	chr6:15524480-15524481	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs6930655	chr6:15524481-15524482	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs533002799	chr6:15524482-15524483	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs149920360	chr6:15524495-15524496	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs368453303	chr6:15524501-15524502	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs552598578	chr6:15524516-15524517	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs370870187	chr6:15524523-15524524	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs139053920	chr6:15524531-15524532	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs548204885	chr6:15524532-15524533	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs560701419	chr6:15524536-15524537	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs568397267	chr6:15524540-15524541	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs537310760	chr6:15524543-15524544	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs2056943	chr6:15524563-15524564	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:112)

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
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
Breast cancer	17133270	CNVD
Autism	22495311	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Bladder cancer	21909424	CNVD
Burkitt''s lymphoma	19759907	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	17606441	CNVD
abnormal development	18461090	CNVD
Cancer	16790693	CNVD
Breast cancer	22032731	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21364760	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
Breast cancer	17142309	CNVD
Digeorge syndrome	20186050	CNVD
velo-cardio-facial conotruncal-face syndrome	20186050	CNVD
Pancreatic cancer	17952125	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
Schizophrenia	22423091	CNVD

Chromatin state (count:139 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:15492200-15527000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr6:15492400-15527200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr6:15492800-15527000	Strong transcription	Primary T helper cells PMA-I stimulated	--
4	chr6:15494800-15527000	Strong transcription	Primary B cells from peripheral blood	blood
5	chr6:15495000-15527200	Strong transcription	Dnd41	blood
6	chr6:15495000-15529200	Strong transcription	Primary T cells from cord blood	blood
7	chr6:15495200-15525800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr6:15495400-15525000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr6:15496000-15525200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr6:15496000-15525600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr6:15496000-15526600	Strong transcription	Primary T helper cells fromperipheralblood	blood
12	chr6:15496000-15528400	Strong transcription	Primary B cells from cord blood	blood
13	chr6:15497400-15526600	Strong transcription	Fetal Intestine Large	intestine
14	chr6:15500600-15524600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr6:15506000-15527000	Strong transcription	Fetal Intestine Small	intestine
16	chr6:15506600-15527400	Strong transcription	Duodenum Mucosa	Duodenum
17	chr6:15506800-15525000	Strong transcription	Rectal Mucosa Donor 29	rectum
18	chr6:15507000-15533200	Weak transcription	HSMM	muscle
19	chr6:15507400-15524400	Strong transcription	Fetal Stomach	stomach
20	chr6:15507400-15524800	Strong transcription	Fetal Lung	lung
21	chr6:15507400-15529400	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr6:15509000-15524600	Strong transcription	Cortex derived primary cultured neurospheres	brain
23	chr6:15509000-15525800	Weak transcription	Fetal Kidney	kidney
24	chr6:15509200-15524200	Strong transcription	ES-I3 Cell Line	embryonic stem cell
25	chr6:15509200-15524600	Strong transcription	HUES6 Cell Line	embryonic stem cell
26	chr6:15509200-15525000	Strong transcription	HUES48 Cell Line	embryonic stem cell
27	chr6:15509200-15527200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr6:15509400-15525000	Strong transcription	HUES64 Cell Line	embryonic stem cell
29	chr6:15510000-15526800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr6:15510800-15527000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr6:15511000-15524600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr6:15511200-15525400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr6:15511600-15528200	Weak transcription	Right Atrium	heart
34	chr6:15512000-15524800	Strong transcription	Muscle Satellite Cultured Cells	--
35	chr6:15512600-15525000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
36	chr6:15512600-15525600	Strong transcription	HepG2	liver
37	chr6:15512600-15531000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr6:15512600-15536400	Weak transcription	Psoas Muscle	Psoas
39	chr6:15514000-15524200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr6:15515200-15525600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr6:15515200-15527000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr6:15515600-15525200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr6:15515800-15533600	Strong transcription	Thymus	Thymus
44	chr6:15516200-15525800	Strong transcription	Fetal Thymus	thymus
45	chr6:15516600-15525000	Strong transcription	Fetal Brain Female	brain
46	chr6:15516800-15524800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr6:15517400-15527000	Strong transcription	Rectal Mucosa Donor 31	rectum
48	chr6:15518400-15531400	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr6:15518600-15525200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr6:15519000-15525000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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