Variant report

Variant	esv3402665
Chromosome Location	chr6:15414573-15416971
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:15408787..15411713-chr6:15413410..15416098,2	K562	blood:
2	chr6:15409169..15411374-chr6:15414283..15416060,2	MCF-7	breast:
3	chr6:15412621..15415523-chr6:15427766..15430879,3	K562	blood:

Extended variants
information (count: 147 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:147 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551459534	chr6:15414683-15414684	Weak transcription Strong transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs571385217	chr6:15414702-15414703	Weak transcription Strong transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs75616711	chr6:15414718-15414719	Weak transcription Strong transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs559065886	chr6:15414730-15414731	Weak transcription Strong transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs567305285	chr6:15414739-15414740	Weak transcription Strong transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs570960355	chr6:15414752-15414753	Weak transcription Strong transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs202216096	chr6:15414767-15414768	Weak transcription Strong transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs200412771	chr6:15414768-15414769	Weak transcription Strong transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs78626319	chr6:15414775-15414776	Weak transcription Strong transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs199616975	chr6:15414776-15414777	Weak transcription Strong transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs200727110	chr6:15414777-15414778	Weak transcription Strong transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs201609220	chr6:15414778-15414779	Weak transcription Strong transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs538469790	chr6:15414805-15414806	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs558359104	chr6:15414816-15414817	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs578020927	chr6:15414840-15414841	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs540759733	chr6:15414847-15414848	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs554199512	chr6:15414855-15414856	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs577943971	chr6:15414995-15414996	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs573980364	chr6:15415006-15415007	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs543300291	chr6:15415037-15415038	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs374877863	chr6:15415042-15415043	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs187513095	chr6:15415053-15415054	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs563187515	chr6:15415097-15415098	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs531911242	chr6:15415156-15415157	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs4712250	chr6:15415157-15415158	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs61102454	chr6:15415187-15415188	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs553243598	chr6:15415190-15415191	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs192138805	chr6:15415238-15415239	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs373016327	chr6:15415250-15415251	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs574831290	chr6:15415252-15415253	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs6905116	chr6:15415254-15415255	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs567113842	chr6:15415340-15415341	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs529657129	chr6:15415360-15415361	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs549636702	chr6:15415387-15415388	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs569594242	chr6:15415392-15415393	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs538583170	chr6:15415413-15415414	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs558320027	chr6:15415435-15415436	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs565913906	chr6:15415441-15415442	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs182725871	chr6:15415452-15415453	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs189112123	chr6:15415453-15415454	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs193067931	chr6:15415454-15415455	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs542197907	chr6:15415458-15415459	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs184590652	chr6:15415471-15415472	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs150720083	chr6:15415519-15415520	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs556620204	chr6:15415557-15415558	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs115563806	chr6:15415560-15415561	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs545764706	chr6:15415575-15415576	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs189155717	chr6:15415586-15415587	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs572612645	chr6:15415597-15415598	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs540735552	chr6:15415600-15415601	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:105)

Disease	PMID	Source
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	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
Breast cancer	17133270	CNVD
Autism	22495311	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Bladder cancer	21909424	CNVD
Burkitt''s lymphoma	19759907	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	17606441	CNVD
abnormal development	18461090	CNVD
Cancer	16790693	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	22032731	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21785460	CNVD
Bladder cancer	16790693	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Retinoblastoma	16790693	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17142309	CNVD
Digeorge syndrome	20186050	CNVD
velo-cardio-facial conotruncal-face syndrome	20186050	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:152 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:15401200-15417200	Weak transcription	Lung	lung
2	chr6:15401200-15426200	Weak transcription	Pancreas	Pancrea
3	chr6:15401600-15415800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr6:15403000-15422000	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr6:15404600-15420800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr6:15404600-15421200	Weak transcription	Spleen	Spleen
7	chr6:15404800-15417800	Weak transcription	NH-A	brain
8	chr6:15404800-15427600	Weak transcription	Stomach Smooth Muscle	stomach
9	chr6:15404800-15429000	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr6:15405200-15418600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr6:15405400-15417000	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr6:15405600-15422000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr6:15405800-15421200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr6:15406600-15416400	Weak transcription	Thymus	Thymus
15	chr6:15406600-15417000	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr6:15406600-15417000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr6:15406800-15416200	Weak transcription	Fetal Intestine Small	intestine
18	chr6:15409200-15426200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr6:15410600-15417000	Weak transcription	HepG2	liver
20	chr6:15410600-15422000	Weak transcription	Gastric	stomach
21	chr6:15410800-15415400	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr6:15411600-15414600	Enhancers	Fetal Kidney	kidney
23	chr6:15411600-15415000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr6:15411800-15414600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr6:15411800-15415000	Genic enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr6:15411800-15415000	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr6:15411800-15416600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr6:15412000-15414600	Genic enhancers	HUES6 Cell Line	embryonic stem cell
29	chr6:15412200-15415000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr6:15412200-15421600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr6:15412400-15414600	Strong transcription	Primary B cells from cord blood	blood
32	chr6:15412400-15417000	Weak transcription	GM12878-XiMat	blood
33	chr6:15412400-15418000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr6:15412400-15418800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr6:15412600-15415000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr6:15412600-15417000	Weak transcription	Monocytes-CD14+_RO01746	blood
37	chr6:15412600-15417400	Strong transcription	H1 Cell Line	embryonic stem cell
38	chr6:15412800-15415000	Strong transcription	Primary B cells from peripheral blood	blood
39	chr6:15412800-15418200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr6:15413000-15414800	Strong transcription	Dnd41	blood
41	chr6:15413000-15415000	Strong transcription	Primary T helper cells PMA-I stimulated	--
42	chr6:15413000-15415000	Strong transcription	Fetal Thymus	thymus
43	chr6:15413000-15415400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr6:15413000-15417000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr6:15413000-15417200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr6:15413000-15418000	Weak transcription	Primary hematopoietic stem cells	blood
47	chr6:15413000-15420800	Weak transcription	Primary monocytes fromperipheralblood	blood
48	chr6:15413200-15415000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr6:15413400-15415000	Enhancers	Fetal Muscle Leg	muscle
50	chr6:15413400-15415000	Enhancers	Fetal Stomach	stomach

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