Variant report

Variant	esv3439555
Chromosome Location	chr6:11317566-11322064
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:11230191..11234687-chr6:11312195..11319542,11	MCF-7	breast:
2	chr6:11316054..11319968-chr6:11321343..11323554,3	MCF-7	breast:
3	chr6:11204929..11207313-chr6:11318207..11320828,2	MCF-7	breast:
4	chr6:11317456..11320211-chr6:11352421..11354286,2	MCF-7	breast:
5	chr6:11230020..11233936-chr6:11318712..11321243,5	MCF-7	breast:
6	chr6:11230728..11233770-chr6:11322053..11325957,3	MCF-7	breast:
7	chr6:11316359..11321416-chr6:11341732..11346793,9	MCF-7	breast:
8	chr6:11321749..11324194-chr6:11324346..11326664,2	MCF-7	breast:
9	chr6:11319797..11323396-chr6:11323814..11327323,3	K562	blood:
10	chr6:11316054..11319968-chr6:11321343..11323554,3	MCF-7	breast:
11	chr6:11277502..11279170-chr6:11316137..11317978,2	MCF-7	breast:
12	chr6:11316228..11320319-chr6:11338551..11345302,8	MCF-7	breast:
13	chr6:11315614..11317309-chr6:11319583..11322409,2	MCF-7	breast:
14	chr6:11308195..11312483-chr6:11313916..11317993,6	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000111859	chromatin interactions

Extended variants
information (count: 234 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:234 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530817904	chr6:11317575-11317576	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs530446397	chr6:11317580-11317581	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs550617114	chr6:11317607-11317608	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs562636868	chr6:11317622-11317623	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs570437032	chr6:11317623-11317624	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs539547908	chr6:11317643-11317644	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs546384348	chr6:11317662-11317663	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs75125265	chr6:11317672-11317673	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs375765577	chr6:11317676-11317677	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs72832919	chr6:11317723-11317724	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs148570148	chr6:11317724-11317725	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs537865233	chr6:11317765-11317766	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs558163575	chr6:11317775-11317776	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs142915400	chr6:11317797-11317798	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs540773192	chr6:11317847-11317848	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs560629961	chr6:11317869-11317870	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs190523396	chr6:11317876-11317877	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs180796884	chr6:11317927-11317928	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs553035574	chr6:11317987-11317988	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs563054711	chr6:11318012-11318013	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs367635834	chr6:11318028-11318029	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs550284332	chr6:11318129-11318130	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs9468849	chr6:11318157-11318158	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs186137894	chr6:11318174-11318175	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs546296331	chr6:11318246-11318247	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs147752474	chr6:11318247-11318248	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs535285812	chr6:11318296-11318297	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs548829063	chr6:11318304-11318305	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs569038147	chr6:11318323-11318324	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs551593347	chr6:11318338-11318339	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs368702532	chr6:11318339-11318340	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs142607853	chr6:11318347-11318348	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs191376482	chr6:11318354-11318355	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs76195526	chr6:11318381-11318382	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs369176383	chr6:11318392-11318393	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs140250706	chr6:11318399-11318400	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs566594030	chr6:11318406-11318407	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs75386224	chr6:11318416-11318417	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs145781669	chr6:11318481-11318482	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs543228674	chr6:11318516-11318517	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs79448260	chr6:11318541-11318542	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs80241654	chr6:11318560-11318561	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs147760408	chr6:11318622-11318623	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs563885351	chr6:11318623-11318624	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs532766144	chr6:11318626-11318627	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs539910970	chr6:11318657-11318658	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs558579970	chr6:11318668-11318669	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs150334936	chr6:11318669-11318670	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	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
50	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

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:306 , 50 per page) page: 1 2 3 4 5 6 7

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	chr6:11306200-11318000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr6:11306400-11318000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr6:11306400-11319400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr6:11306400-11326800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr6:11306600-11318200	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr6:11306600-11319200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr6:11307000-11319400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr6:11307200-11317800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr6:11308000-11317800	Weak transcription	GM12878-XiMat	blood
12	chr6:11310800-11317800	Weak transcription	Lung	lung
13	chr6:11310800-11319600	Weak transcription	Gastric	stomach
14	chr6:11310800-11323000	Weak transcription	Primary hematopoietic stem cells	blood
15	chr6:11311000-11323800	Weak transcription	Fetal Thymus	thymus
16	chr6:11311400-11317800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr6:11311400-11317800	Weak transcription	Placenta	Placenta
18	chr6:11311600-11317800	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr6:11312200-11319600	Strong transcription	Primary T cells from cord blood	blood
20	chr6:11312800-11318200	Weak transcription	Spleen	Spleen
21	chr6:11313800-11318800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr6:11313800-11320200	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr6:11314600-11319600	Weak transcription	Fetal Brain Male	brain
24	chr6:11315000-11318400	Strong transcription	Primary B cells from peripheral blood	blood
25	chr6:11315000-11322800	Strong transcription	Primary B cells from cord blood	blood
26	chr6:11315200-11320000	Enhancers	HMEC	breast
27	chr6:11315400-11318000	Strong transcription	Primary T cells fromperipheralblood	blood
28	chr6:11315400-11319800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr6:11315400-11320000	Enhancers	Fetal Intestine Small	intestine
30	chr6:11315600-11319200	Weak transcription	Rectal Smooth Muscle	rectum
31	chr6:11315800-11318000	Enhancers	Osteobl	bone
32	chr6:11315800-11319800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr6:11315800-11320000	Enhancers	NH-A	brain
34	chr6:11315800-11320200	Enhancers	Fetal Intestine Large	intestine
35	chr6:11315800-11320200	Enhancers	Hela-S3	cervix
36	chr6:11316000-11321200	Weak transcription	Dnd41	blood
37	chr6:11316200-11329800	Weak transcription	Right Atrium	heart
38	chr6:11316400-11318200	Strong transcription	Primary T helper cells fromperipheralblood	blood
39	chr6:11316400-11318200	Weak transcription	Small Intestine	intestine
40	chr6:11316400-11318600	Genic enhancers	Primary T helper cells PMA-I stimulated	--
41	chr6:11316400-11320200	Enhancers	NHEK	skin
42	chr6:11316600-11317600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr6:11316600-11318200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr6:11316800-11317800	Weak transcription	Duodenum Mucosa	Duodenum
45	chr6:11316800-11318000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr6:11316800-11318000	Weak transcription	Adipose Nuclei	Adipose
47	chr6:11316800-11318000	Weak transcription	Aorta	Aorta
48	chr6:11316800-11318200	Enhancers	Muscle Satellite Cultured Cells	--
49	chr6:11316800-11318200	Weak transcription	Left Ventricle	heart
50	chr6:11316800-11320000	Enhancers	HUVEC	blood vessel

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