Variant report

Variant	esv3352794
Chromosome Location	chr6:11318466-11322164
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:11317456..11320211-chr6:11352421..11354286,2	MCF-7	breast:
2	chr6:11315614..11317309-chr6:11319583..11322409,2	MCF-7	breast:
3	chr6:11230728..11233770-chr6:11322053..11325957,3	MCF-7	breast:
4	chr6:11230020..11233936-chr6:11318712..11321243,5	MCF-7	breast:
5	chr6:11230191..11234687-chr6:11312195..11319542,11	MCF-7	breast:
6	chr6:11316054..11319968-chr6:11321343..11323554,3	MCF-7	breast:
7	chr6:11321749..11324194-chr6:11324346..11326664,2	MCF-7	breast:
8	chr6:11204929..11207313-chr6:11318207..11320828,2	MCF-7	breast:
9	chr6:11316054..11319968-chr6:11321343..11323554,3	MCF-7	breast:
10	chr6:11316228..11320319-chr6:11338551..11345302,8	MCF-7	breast:
11	chr6:11316359..11321416-chr6:11341732..11346793,9	MCF-7	breast:
12	chr6:11319797..11323396-chr6:11323814..11327323,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000111859	chromatin interactions

Extended variants
information (count: 199 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:199 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145781669	chr6:11318481-11318482	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs543228674	chr6:11318516-11318517	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs79448260	chr6:11318541-11318542	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs80241654	chr6:11318560-11318561	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs147760408	chr6:11318622-11318623	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs563885351	chr6:11318623-11318624	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs532766144	chr6:11318626-11318627	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs539910970	chr6:11318657-11318658	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs558579970	chr6:11318668-11318669	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs150334936	chr6:11318669-11318670	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs6900129	chr6:11318672-11318673	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs6923444	chr6:11318682-11318683	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs182552742	chr6:11318697-11318698	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs374731973	chr6:11318703-11318704	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs531466777	chr6:11318705-11318706	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs551658710	chr6:11318719-11318720	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs571523884	chr6:11318727-11318728	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs137975391	chr6:11318729-11318730	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs149518270	chr6:11318754-11318755	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs537857649	chr6:11318765-11318766	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs554577723	chr6:11318787-11318788	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs568970800	chr6:11318819-11318820	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs536789275	chr6:11318820-11318821	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs556469748	chr6:11318860-11318861	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs576587315	chr6:11318903-11318904	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs143403060	chr6:11318920-11318921	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs185670898	chr6:11318927-11318928	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs190576566	chr6:11318931-11318932	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs577181355	chr6:11318940-11318941	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs560190319	chr6:11318954-11318955	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs16871249	chr6:11318994-11318995	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs200782500	chr6:11319013-11319014	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs183011723	chr6:11319029-11319030	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs376362359	chr6:11319030-11319031	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs542717842	chr6:11319056-11319057	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs201247863	chr6:11319058-11319059	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs76779741	chr6:11319068-11319069	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs62395338	chr6:11319071-11319072	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs531556867	chr6:11319102-11319103	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs551353661	chr6:11319140-11319141	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs571550854	chr6:11319142-11319143	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs144751043	chr6:11319161-11319162	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs138767751	chr6:11319194-11319195	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs567704033	chr6:11319245-11319246	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs536704542	chr6:11319337-11319338	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs141808721	chr6:11319355-11319356	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs1883240	chr6:11319365-11319366	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs539234266	chr6:11319492-11319493	Genic enhancers Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs117624096	chr6:11319581-11319582	Genic enhancers Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs115141979	chr6:11319582-11319583	Genic enhancers Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:98)

Disease	PMID	Source
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	CNVD
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	22495311	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
Melanoma	20688739	CNVD
Cancer	21183584	CNVD
Acute myeloid leukemia	18000384	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21364760	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Bladder cancer	21909424	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Burkitt''s lymphoma	19759907	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:247 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:11305800-11319400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr6:11306000-11319400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr6:11306400-11319400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr6:11306400-11326800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr6:11306600-11319200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr6:11307000-11319400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr6:11310800-11319600	Weak transcription	Gastric	stomach
8	chr6:11310800-11323000	Weak transcription	Primary hematopoietic stem cells	blood
9	chr6:11311000-11323800	Weak transcription	Fetal Thymus	thymus
10	chr6:11312200-11319600	Strong transcription	Primary T cells from cord blood	blood
11	chr6:11313800-11318800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr6:11313800-11320200	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr6:11314600-11319600	Weak transcription	Fetal Brain Male	brain
14	chr6:11315000-11322800	Strong transcription	Primary B cells from cord blood	blood
15	chr6:11315200-11320000	Enhancers	HMEC	breast
16	chr6:11315400-11319800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr6:11315400-11320000	Enhancers	Fetal Intestine Small	intestine
18	chr6:11315600-11319200	Weak transcription	Rectal Smooth Muscle	rectum
19	chr6:11315800-11319800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr6:11315800-11320000	Enhancers	NH-A	brain
21	chr6:11315800-11320200	Enhancers	Fetal Intestine Large	intestine
22	chr6:11315800-11320200	Enhancers	Hela-S3	cervix
23	chr6:11316000-11321200	Weak transcription	Dnd41	blood
24	chr6:11316200-11329800	Weak transcription	Right Atrium	heart
25	chr6:11316400-11318600	Genic enhancers	Primary T helper cells PMA-I stimulated	--
26	chr6:11316400-11320200	Enhancers	NHEK	skin
27	chr6:11316800-11320000	Enhancers	HUVEC	blood vessel
28	chr6:11317000-11319200	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr6:11317000-11320200	Enhancers	NHDF-Ad	bronchial
30	chr6:11317400-11324600	Weak transcription	Thymus	Thymus
31	chr6:11317600-11319800	Enhancers	Stomach Mucosa	stomach
32	chr6:11317800-11318600	Flanking Active TSS	A549	lung
33	chr6:11317800-11319000	Enhancers	Placenta	Placenta
34	chr6:11317800-11319600	Enhancers	Duodenum Mucosa	Duodenum
35	chr6:11317800-11319800	Enhancers	Rectal Mucosa Donor 31	rectum
36	chr6:11317800-11319800	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr6:11317800-11320000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr6:11318000-11318600	Genic enhancers	Primary T cells fromperipheralblood	blood
39	chr6:11318000-11318600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr6:11318000-11318600	Enhancers	Placenta Amnion	Placenta Amnion
41	chr6:11318000-11318600	Flanking Active TSS	Osteobl	bone
42	chr6:11318000-11318800	Enhancers	Fetal Muscle Trunk	muscle
43	chr6:11318000-11318800	Enhancers	Ovary	ovary
44	chr6:11318000-11319800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr6:11318000-11319800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr6:11318000-11319800	Enhancers	Adipose Nuclei	Adipose
47	chr6:11318000-11319800	Enhancers	Colon Smooth Muscle	Colon
48	chr6:11318000-11319800	Enhancers	Fetal Muscle Leg	muscle
49	chr6:11318000-11320000	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
50	chr6:11318000-11320000	Enhancers	Monocytes-CD14+_RO01746	blood

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