Variant report

Variant	esv3386435
Chromosome Location	chr6:29702223-29704171
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	chr6:29702012..29703555-chr6:29719487..29721197,2	K562	blood:
2	chr6:29702235..29703896-chr6:29705917..29708900,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZFP57-7	chr6:29702805-29704597	ENSG00000214922.3

Variant related genes	Relation type
ENSG00000272236	chromatin interactions
ENSG00000214922	chromatin interactions

Extended variants
information (count: 67 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:67 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558308014	chr6:29702244-29702245	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs575129020	chr6:29702281-29702282	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs376122956	chr6:29702319-29702320	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs543568688	chr6:29702334-29702335	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs564857027	chr6:29702402-29702403	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs532167795	chr6:29702463-29702464	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs537664472	chr6:29702477-29702478	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs554822124	chr6:29702509-29702510	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs2523395	chr6:29702510-29702511	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease
10	rs62391822	chr6:29702574-29702575	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs559933903	chr6:29702579-29702580	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs150299534	chr6:29702618-29702619	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs2394159	chr6:29702679-29702680	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs367724636	chr6:29702700-29702701	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs2248927	chr6:29702709-29702710	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs531095767	chr6:29702720-29702721	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs9468593	chr6:29702824-29702825	Weak transcription Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs530259654	chr6:29702848-29702849	Weak transcription Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
19	rs561584058	chr6:29702863-29702864	Weak transcription Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
20	rs530364788	chr6:29702868-29702869	Weak transcription Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
21	rs9468594	chr6:29702877-29702878	Weak transcription Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs137958465	chr6:29702904-29702905	Weak transcription Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
23	rs377274747	chr6:29702928-29702929	Weak transcription Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
24	rs562823118	chr6:29702959-29702960	Weak transcription Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
25	rs572229667	chr6:29702981-29702982	Weak transcription Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
26	rs199817506	chr6:29702982-29702983	Weak transcription Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
27	rs9258203	chr6:29703018-29703019	Weak transcription Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs569033049	chr6:29703020-29703021	Weak transcription Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
29	rs2107184	chr6:29703094-29703095	Weak transcription Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs150624335	chr6:29703109-29703110	Weak transcription Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
31	rs200889062	chr6:29703119-29703120	Weak transcription Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
32	rs3999013	chr6:29703120-29703121	Weak transcription Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
33	rs200304134	chr6:29703125-29703126	Weak transcription Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
34	rs545097191	chr6:29703126-29703127	Weak transcription Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
35	rs201218164	chr6:29703128-29703129	Weak transcription Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
36	rs2394662	chr6:29703130-29703131	Weak transcription Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
37	rs201028569	chr6:29703135-29703136	Weak transcription Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
38	rs369588775	chr6:29703137-29703138	Weak transcription Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
39	rs2394664	chr6:29703138-29703139	Weak transcription Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
40	rs2394665	chr6:29703140-29703141	Weak transcription Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
41	rs556222286	chr6:29703142-29703143	Weak transcription Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
42	rs10947008	chr6:29703150-29703151	Weak transcription Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
43	rs113099662	chr6:29703153-29703154	Weak transcription Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
44	rs2107183	chr6:29703156-29703157	Weak transcription Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
45	rs13192896	chr6:29703162-29703163	Weak transcription Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
46	rs114986767	chr6:29703178-29703179	Weak transcription Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
47	rs555121762	chr6:29703215-29703216	Weak transcription Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
48	rs574667831	chr6:29703227-29703228	Weak transcription Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
49	rs2394160	chr6:29703262-29703263	Weak transcription Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs553709065	chr6:29703389-29703390	Weak transcription Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:106)

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
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Gastric cancer	16891809	CNVD
Ovarian cancer	21781307	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	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
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
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
Myelofibrosis	22110671	CNVD
Breast cancer	16397240	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	19571809	CNVD
Schizophrenia	19571808	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
abnormal development	18461090	CNVD
Breast cancer	21509527	CNVD
Melanoma	17363583	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:29692200-29715800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr6:29692400-29715800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr6:29692800-29712000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr6:29693200-29711400	Weak transcription	Pancreas	Pancrea
5	chr6:29693400-29715600	Weak transcription	Esophagus	oesophagus
6	chr6:29693600-29715600	Weak transcription	NHLF	lung
7	chr6:29693800-29705400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr6:29693800-29715400	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr6:29693800-29716000	Weak transcription	Small Intestine	intestine
10	chr6:29694000-29707000	Weak transcription	Rectal Smooth Muscle	rectum
11	chr6:29694000-29711200	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr6:29694000-29711400	Weak transcription	Gastric	stomach
13	chr6:29694000-29712200	Weak transcription	Aorta	Aorta
14	chr6:29694000-29715600	Weak transcription	Colon Smooth Muscle	Colon
15	chr6:29694200-29705600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr6:29696000-29705600	Weak transcription	Right Ventricle	heart
17	chr6:29696000-29715600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr6:29696000-29715600	Weak transcription	Ovary	ovary
19	chr6:29696200-29703800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr6:29696200-29703800	Weak transcription	Left Ventricle	heart
21	chr6:29696200-29705600	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr6:29696200-29705800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr6:29696200-29711800	Weak transcription	Adipose Nuclei	Adipose
24	chr6:29696200-29715200	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr6:29696200-29715600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr6:29696200-29715600	Weak transcription	Liver	Liver
27	chr6:29696400-29702400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr6:29696400-29710800	Weak transcription	Lung	lung
29	chr6:29696400-29711400	Weak transcription	Spleen	Spleen
30	chr6:29696400-29711800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr6:29696400-29712000	Weak transcription	Duodenum Mucosa	Duodenum
32	chr6:29696400-29715400	Weak transcription	Stomach Smooth Muscle	stomach
33	chr6:29696600-29715600	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr6:29696800-29702400	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chr6:29696800-29714600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr6:29696800-29715800	Weak transcription	Colonic Mucosa	Colon
37	chr6:29699000-29702600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr6:29699200-29712400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr6:29699400-29702400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr6:29699800-29702400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr6:29700000-29715200	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr6:29700600-29711600	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr6:29701800-29702400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr6:29701800-29702400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr6:29701800-29702600	Enhancers	NHEK	skin
46	chr6:29701800-29702800	Enhancers	Primary neutrophils fromperipheralblood	blood
47	chr6:29701800-29702800	Enhancers	HMEC	breast
48	chr6:29702000-29702800	Enhancers	GM12878-XiMat	blood
49	chr6:29702000-29711200	Weak transcription	Primary T cells fromperipheralblood	blood
50	chr6:29702000-29711600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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