Variant report

Variant	esv21322
Chromosome Location	chr6:34111895-34113220
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:34111438..34113496-chr6:34384142..34385841,2	MCF-7	breast:
2	chr6:34107259..34108884-chr6:34110412..34112851,2	MCF-7	breast:
3	chr6:34100230..34104042-chr6:34111323..34114936,4	K562	blood:
4	chr6:34023119..34023631-chr6:34111504..34112235,2	K562	blood:
5	chr6:34023163..34023796-chr6:34111451..34112193,2	MCF-7	breast:
6	chr6:34101607..34103904-chr6:34110827..34112823,3	K562	blood:
7	chr6:34023393..34025806-chr6:34111046..34114201,3	MCF-7	breast:
8	chr6:33677651..33679939-chr6:34111673..34114600,2	MCF-7	breast:
9	chr6:34110331..34113788-chr6:34116260..34119382,3	MCF-7	breast:
10	chr6:34023070..34025324-chr6:34112183..34113758,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000137288	chromatin interactions
ENSG00000124493	chromatin interactions

Extended variants
information (count: 37 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:37 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369437013	chr6:34111896-34111897	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs183951159	chr6:34111903-34111904	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs545702402	chr6:34111940-34111941	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs371544274	chr6:34111942-34111943	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs564273157	chr6:34111962-34111963	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs528260276	chr6:34112028-34112029	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs546901979	chr6:34112034-34112035	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs561954079	chr6:34112117-34112118	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs530124828	chr6:34112140-34112141	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs527996820	chr6:34112187-34112188	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs570184568	chr6:34112197-34112198	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs537514969	chr6:34112258-34112259	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs113525200	chr6:34112324-34112325	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs75489153	chr6:34112393-34112394	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs377194734	chr6:34112436-34112437	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs6904041	chr6:34112501-34112502	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs374020868	chr6:34112509-34112510	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs376164704	chr6:34112598-34112599	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs568377019	chr6:34112621-34112622	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs12527458	chr6:34112661-34112662	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs79107456	chr6:34112671-34112672	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs6904126	chr6:34112735-34112736	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs372750082	chr6:34112741-34112742	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs187754734	chr6:34112776-34112777	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs190889059	chr6:34112810-34112811	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs376340553	chr6:34112852-34112853	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs370672011	chr6:34112897-34112898	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs373071422	chr6:34112937-34112938	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs150383498	chr6:34112945-34112946	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs561966050	chr6:34112983-34112984	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs529174140	chr6:34112984-34112985	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs144992083	chr6:34113004-34113005	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs563704938	chr6:34113037-34113038	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs540987851	chr6:34113133-34113134	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs530788414	chr6:34113138-34113139	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs552683498	chr6:34113173-34113174	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs570849874	chr6:34113202-34113203	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:105)

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
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
Chronic lymphocytic leukemia	21546498	CNVD
Hepatocellular carcinoma	16750200	CNVD
Autism	22495311	CNVD
Cancer	16790693	CNVD
Cervical cancer	21062161	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
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
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
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
Autoimmune disease	19135723	CNVD
Congenital adrenal hyperplasia	18478071	CNVD
Systemic lupus erythematosus	19287147	CNVD
Osteosarcoma	16790693	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Lung cancer	18438408	CNVD
Glioblastoma multiforme	21138945	CNVD
Breast cancer	21364760	CNVD
Urothelial carcinoma	21177765	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:305 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34110000-34112600	Bivalent Enhancer	Fetal Brain Male	brain
2	chr6:34110000-34112600	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
3	chr6:34110200-34113200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
4	chr6:34110200-34114000	Bivalent Enhancer	Placenta	Placenta
5	chr6:34110400-34112800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
6	chr6:34110400-34114000	Bivalent Enhancer	Fetal Thymus	thymus
7	chr6:34110800-34113800	Active TSS	H9 Cell Line	embryonic stem cell
8	chr6:34111000-34112600	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
9	chr6:34111200-34112400	Bivalent Enhancer	Brain Substantia Nigra	brain
10	chr6:34111200-34112800	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
11	chr6:34111200-34112800	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
12	chr6:34111200-34112800	Enhancers	Gastric	stomach
13	chr6:34111200-34114000	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
14	chr6:34111400-34112000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
15	chr6:34111400-34112000	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr6:34111400-34112000	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr6:34111400-34112000	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr6:34111400-34112000	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
19	chr6:34111400-34112000	Flanking Bivalent TSS/Enh	Primary T killer naive cells fromperipheralblood	blood
20	chr6:34111400-34112000	Flanking Bivalent TSS/Enh	Primary T killer memory cells from peripheral blood	blood
21	chr6:34111400-34112000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr6:34111400-34112000	Bivalent Enhancer	HepG2	liver
23	chr6:34111400-34112000	Bivalent Enhancer	HSMMtube	muscle
24	chr6:34111400-34112200	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr6:34111400-34112200	Bivalent Enhancer	NH-A	brain
26	chr6:34111400-34112400	Bivalent Enhancer	Liver	Liver
27	chr6:34111400-34112400	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
28	chr6:34111400-34112400	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
29	chr6:34111400-34112400	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
30	chr6:34111400-34112400	Bivalent Enhancer	Small Intestine	intestine
31	chr6:34111400-34112600	Bivalent Enhancer	Fetal Intestine Large	intestine
32	chr6:34111400-34112800	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr6:34111400-34112800	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
34	chr6:34111400-34112800	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
35	chr6:34111400-34112800	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
36	chr6:34111400-34112800	Bivalent Enhancer	Fetal Lung	lung
37	chr6:34111400-34112800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
38	chr6:34111400-34112800	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
39	chr6:34111400-34112800	Bivalent Enhancer	Stomach Mucosa	stomach
40	chr6:34111400-34112800	Bivalent Enhancer	HUVEC	blood vessel
41	chr6:34111400-34113000	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
42	chr6:34111400-34113000	Flanking Bivalent TSS/Enh	Brain Cingulate Gyrus	brain
43	chr6:34111400-34113000	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
44	chr6:34111400-34113000	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
45	chr6:34111400-34113400	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr6:34111400-34113600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr6:34111400-34113600	Bivalent Enhancer	Lung	lung
48	chr6:34111400-34113600	Bivalent Enhancer	GM12878-XiMat	blood
49	chr6:34111400-34113800	Flanking Active TSS	Primary hematopoietic stem cells	blood
50	chr6:34111400-34113800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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