Variant report

Variant	nsv981114
Chromosome Location	chr6:26431459-26432209
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	chr6:26422974..26425534-chr6:26428185..26431650,3	K562	blood:
2	chr6:26431968..26434782-chr6:26519398..26522131,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000228223	chromatin interactions
ENSG00000124549	chromatin interactions
ENSG00000199289	chromatin interactions

Extended variants
information (count: 42 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:42 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556116199	chr6:26431463-26431464	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs548072387	chr6:26431472-26431473	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs201341265	chr6:26431479-26431480	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs369814714	chr6:26431485-26431486	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs76106042	chr6:26431497-26431498	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs372736847	chr6:26431506-26431507	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs149996919	chr6:26431516-26431517	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs201677328	chr6:26431550-26431551	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs145259741	chr6:26431555-26431556	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs140676996	chr6:26431573-26431574	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs80020891	chr6:26431578-26431579	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs565961580	chr6:26431623-26431624	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs556635637	chr6:26431636-26431637	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs144652271	chr6:26431642-26431643	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs529756262	chr6:26431654-26431655	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs45579642	chr6:26431671-26431672	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs200274107	chr6:26431689-26431690	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs570037357	chr6:26431706-26431707	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs78930875	chr6:26431712-26431713	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs369316312	chr6:26431715-26431716	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs372476365	chr6:26431733-26431734	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs377078378	chr6:26431765-26431766	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs143823882	chr6:26431805-26431806	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs369887382	chr6:26431849-26431850	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs118187415	chr6:26431855-26431856	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs568582757	chr6:26431858-26431859	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs373914319	chr6:26431866-26431867	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs571895114	chr6:26431886-26431887	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs540139746	chr6:26431890-26431891	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs553619741	chr6:26431902-26431903	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs139018622	chr6:26431917-26431918	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs545376088	chr6:26431935-26431936	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs375846074	chr6:26431940-26431941	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs112870483	chr6:26431952-26431953	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs531305551	chr6:26431953-26431954	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs2235251	chr6:26431982-26431983	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs542747491	chr6:26432002-26432003	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs562155269	chr6:26432021-26432022	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs146369498	chr6:26432072-26432073	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs138441809	chr6:26432088-26432089	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs184895143	chr6:26432106-26432107	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs189564308	chr6:26432172-26432173	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:102)

Disease	PMID	Source
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
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
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
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	17133270	CNVD
Autism	22495311	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
Retinoblastoma	16790693	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
T-cell lymphomas	19863542	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
small cell lung cancer	20016488	CNVD
Williams-beuren syndrome	16971481	CNVD
Renal cell carcinoma	18765545	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	21569311	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16397240	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:128 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:26422200-26439800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr6:26422400-26432000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr6:26422400-26439400	Weak transcription	Primary T cells from cord blood	blood
4	chr6:26422400-26439400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr6:26422400-26439600	Weak transcription	Thymus	Thymus
6	chr6:26422600-26432600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr6:26422600-26432800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr6:26422600-26434200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr6:26422600-26434400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr6:26422600-26434600	Weak transcription	Primary hematopoietic stem cells	blood
11	chr6:26422600-26439400	Weak transcription	HMEC	breast
12	chr6:26422600-26439600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr6:26422600-26439800	Weak transcription	Primary B cells from cord blood	blood
14	chr6:26422600-26440000	Weak transcription	Psoas Muscle	Psoas
15	chr6:26423000-26431600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr6:26423000-26433200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr6:26423200-26432600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr6:26423200-26432800	Weak transcription	GM12878-XiMat	blood
19	chr6:26423200-26440000	Weak transcription	Colonic Mucosa	Colon
20	chr6:26423600-26439400	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr6:26423600-26440400	Weak transcription	Right Ventricle	heart
22	chr6:26423800-26439600	Weak transcription	Colon Smooth Muscle	Colon
23	chr6:26423800-26439800	Weak transcription	Hela-S3	cervix
24	chr6:26424800-26431600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr6:26424800-26431800	Weak transcription	Aorta	Aorta
26	chr6:26424800-26433400	Weak transcription	Esophagus	oesophagus
27	chr6:26425000-26433400	Strong transcription	Fetal Muscle Leg	muscle
28	chr6:26425200-26432600	Strong transcription	Fetal Muscle Trunk	muscle
29	chr6:26425400-26432400	Strong transcription	HSMM	muscle
30	chr6:26425600-26432400	Strong transcription	Fetal Intestine Large	intestine
31	chr6:26425600-26432600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr6:26425600-26432600	Strong transcription	Fetal Lung	lung
33	chr6:26425600-26433400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr6:26425800-26432400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr6:26425800-26433400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr6:26425800-26439600	Weak transcription	Small Intestine	intestine
37	chr6:26426000-26431600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr6:26426000-26431600	Weak transcription	HepG2	liver
39	chr6:26426000-26432000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr6:26426000-26432400	Strong transcription	Duodenum Mucosa	Duodenum
41	chr6:26426200-26431600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr6:26426200-26432200	Strong transcription	Adipose Nuclei	Adipose
43	chr6:26426200-26433400	Strong transcription	Cortex derived primary cultured neurospheres	brain
44	chr6:26426400-26432200	Strong transcription	Fetal Intestine Small	intestine
45	chr6:26426400-26432400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
46	chr6:26426400-26432400	Strong transcription	Stomach Smooth Muscle	stomach
47	chr6:26426400-26432600	Strong transcription	Fetal Stomach	stomach
48	chr6:26426600-26431800	Strong transcription	NHLF	lung
49	chr6:26427000-26432200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
50	chr6:26427200-26432400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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