Variant report

Variant	nsv884139
Chromosome Location	chr6:31200557-31215097
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:31208671..31211485-chr6:31212417..31214896,3	MCF-7	breast:
2	chr6:31209841..31212396-chr6:31219604..31221505,2	K562	blood:
3	chr6:31208671..31211485-chr6:31212417..31214896,3	MCF-7	breast:

Extended variants
information (count: 667 )
Associated
traits (count: 123 )

Variant overlapped rSNPs/rCNVs (count:667 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554714803	chr6:31200609-31200610	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs7739334	chr6:31200641-31200642	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs373253087	chr6:31200671-31200672	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs12664433	chr6:31200672-31200673	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs558855308	chr6:31200691-31200692	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs577101364	chr6:31200707-31200708	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs373556116	chr6:31200736-31200737	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs7757622	chr6:31200764-31200765	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs182743208	chr6:31200768-31200769	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs386698903	chr6:31200814-31200815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs112460443	chr6:31200815-31200816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs3130699	chr6:31200816-31200817	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs9264077	chr6:31200838-31200839	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs374078162	chr6:31200845-31200846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs563446989	chr6:31200875-31200876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs188939579	chr6:31200920-31200921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs530982677	chr6:31200936-31200937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs552370116	chr6:31200948-31200949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs564610803	chr6:31200959-31200960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs192536767	chr6:31200997-31200998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs528809922	chr6:31201004-31201005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs115702424	chr6:31201014-31201015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs565629866	chr6:31201017-31201018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs536256165	chr6:31201044-31201045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs376532637	chr6:31201045-31201046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs57027312	chr6:31201052-31201053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs561676471	chr6:31201080-31201081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs183078570	chr6:31201098-31201099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs148761095	chr6:31201139-31201140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs187454120	chr6:31201140-31201141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs3132532	chr6:31201202-31201203	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs558743041	chr6:31201205-31201206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs28744276	chr6:31201206-31201207	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs9501530	chr6:31201207-31201208	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs3130700	chr6:31201248-31201249	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs574447817	chr6:31201257-31201258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs191951270	chr6:31201266-31201267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs201273939	chr6:31201343-31201344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs146651644	chr6:31201345-31201346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs184919796	chr6:31201354-31201355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs3134775	chr6:31201357-31201358	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs150314604	chr6:31201376-31201377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs528532049	chr6:31201377-31201378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs137976064	chr6:31201378-31201379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs149518445	chr6:31201438-31201439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs3132531	chr6:31201472-31201473	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs9264082	chr6:31201514-31201515	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs3134774	chr6:31201524-31201525	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
49	rs112758902	chr6:31201534-31201535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs142847227	chr6:31201541-31201542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:123)

Disease	PMID	Source
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
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Melanoma	18172304	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	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
Ovarian cancer	21781307	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
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Autism	22495311	CNVD
Cancer	16790693	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18765545	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Gastric cancer	17908304	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Schizophrenia	19571808	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
abnormal development	18461090	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16397240	CNVD
Retinoblastoma	22278416	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Systemic lupus erythematosus	20877625	CNVD
Cleidocranial dysplasia	18696259	CNVD
Holoprosencephaly	21359414	CNVD
Liposarcoma	21253554	CNVD
Uveal melanoma	20484589	CNVD
Fibroblasts	20926602	CNVD
Breast cancer	21364760	CNVD
Systemic lupus erythematosus	19279649	CNVD
Retinoblastoma	16790693	CNVD
Acute myocardial infarction	18032375	CNVD
Renal cell carcinoma	19150565	CNVD
Systemic lupus erythematosus	19591781	CNVD
Attention deficit hyperactivity disorder	19287146	CNVD
Autism	19287146	CNVD
Erythema nodosum in leprosy	19287146	CNVD
Henoch-schoenlein purpura	19287146	CNVD
Liver cirrhosis	19287146	CNVD
Systemic lupus erythematosus	19287146	CNVD
Congenital adrenal hyperplasia	18478071	CNVD
Systemic lupus erythematosus	19287147	CNVD
Osteosarcoma	16790693	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
lymphocytic leukemia	21291569	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:31193200-31201600	Weak transcription	Primary hematopoietic stem cells	blood
2	chr6:31198400-31201600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr6:31198400-31201600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr6:31199800-31200600	Enhancers	Gastric	stomach
5	chr6:31200400-31200800	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr6:31200800-31201800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr6:31201600-31202600	Enhancers	Primary hematopoietic stem cells	blood
8	chr6:31201600-31202600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr6:31201600-31202600	Enhancers	HUVEC	blood vessel
10	chr6:31201600-31203400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr6:31201800-31202000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
12	chr6:31201800-31202200	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr6:31201800-31202600	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr6:31202600-31213600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr6:31209200-31209400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr6:31210600-31211400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
17	chr6:31210800-31211400	Enhancers	Primary T helper naive cells from peripheral blood	blood
18	chr6:31210800-31211600	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr6:31210800-31211600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr6:31211000-31211600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr6:31211000-31211600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
22	chr6:31211000-31211600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr6:31211000-31211600	Enhancers	NHEK	skin
24	chr6:31211200-31211400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr6:31211200-31211400	Enhancers	Hela-S3	cervix
26	chr6:31211200-31211400	Enhancers	HMEC	breast
27	chr6:31211200-31211400	Bivalent Enhancer	NHDF-Ad	bronchial
28	chr6:31211200-31211600	Enhancers	Primary hematopoietic stem cells	blood
29	chr6:31211200-31211600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr6:31211200-31211600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr6:31211400-31213200	Weak transcription	HMEC	breast
32	chr6:31211400-31213600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr6:31211600-31212400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr6:31211600-31213000	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr6:31211600-31213000	Weak transcription	NHEK	skin
36	chr6:31211600-31213200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr6:31211600-31213200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr6:31211600-31213200	Weak transcription	Hela-S3	cervix
39	chr6:31211600-31213400	Weak transcription	Primary hematopoietic stem cells	blood
40	chr6:31211600-31213400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr6:31211600-31213600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr6:31211600-31213600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr6:31212000-31213400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr6:31213000-31214400	Enhancers	NHEK	skin
45	chr6:31213200-31213400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
46	chr6:31213200-31213400	Enhancers	Primary T helper cells PMA-I stimulated	--
47	chr6:31213200-31213400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr6:31213200-31213800	Enhancers	Hela-S3	cervix
49	chr6:31213200-31214000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr6:31213200-31214600	Enhancers	HMEC	breast

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