Variant report

Variant	esv3392139
Chromosome Location	chr6:25031173-25033071
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:25032538-25032713	GM12878	blood:	n/a	n/a
2	USF2	chr6:25032490-25032667	GM12878	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:25024268..25027647-chr6:25028842..25032564,4	K562	blood:
2	chr6:25029897..25032330-chr6:25040931..25043429,2	K562	blood:
3	chr6:25032692..25035035-chr6:25036206..25038734,3	K562	blood:
4	chr6:25023746..25026604-chr6:25028842..25032564,3	K562	blood:
5	chr6:25025835..25027765-chr6:25032944..25034504,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CMAHP-3	chr6:25031243-25031510	NONHSAT108130

No data

Variant related genes	Relation type
RN7SL334P	TF binding region
ENSG00000229313	chromatin interactions
ENSG00000272053	chromatin interactions
ENSG00000111913	chromatin interactions
ENSG00000220517	chromatin interactions

Extended variants
information (count: 75 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:75 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9348659	chr6:25031188-25031189	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs550889609	chr6:25031223-25031224	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs532504782	chr6:25031224-25031225	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs138595976	chr6:25031226-25031227	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs563165172	chr6:25031235-25031236	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs142727841	chr6:25031254-25031255	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
7	rs548895835	chr6:25031270-25031271	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
8	rs562130818	chr6:25031302-25031303	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
9	rs116622247	chr6:25031347-25031348	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
10	rs2394360	chr6:25031372-25031373	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region lncRNA	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs566238880	chr6:25031411-25031412	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
12	rs9467379	chr6:25031419-25031420	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
13	rs12189757	chr6:25031451-25031452	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
14	rs147383846	chr6:25031471-25031472	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
15	rs181637633	chr6:25031500-25031501	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
16	rs370658116	chr6:25031549-25031550	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs185982163	chr6:25031627-25031628	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs137868184	chr6:25031648-25031649	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs190393225	chr6:25031650-25031651	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs545158794	chr6:25031713-25031714	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs553959671	chr6:25031720-25031721	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs182223352	chr6:25031778-25031779	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs552585310	chr6:25031784-25031785	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs72040582	chr6:25031785-25031786	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs533979745	chr6:25031800-25031801	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs143450847	chr6:25031924-25031925	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs567887440	chr6:25031927-25031928	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs536501612	chr6:25031947-25031948	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs532838183	chr6:25031968-25031969	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs58886088	chr6:25031972-25031973	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs60133171	chr6:25031978-25031979	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs199807578	chr6:25031982-25031983	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs554270706	chr6:25032002-25032003	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs568567611	chr6:25032004-25032005	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs556705036	chr6:25032006-25032007	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs443882	chr6:25032044-25032045	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs190952333	chr6:25032071-25032072	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs572177318	chr6:25032130-25032131	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs368478855	chr6:25032146-25032147	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs546153036	chr6:25032305-25032306	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs183142589	chr6:25032324-25032325	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs576421820	chr6:25032326-25032327	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs542153423	chr6:25032340-25032341	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs562045724	chr6:25032345-25032346	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs527838135	chr6:25032365-25032366	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs144826429	chr6:25032388-25032389	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs150764283	chr6:25032393-25032394	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs377022342	chr6:25032394-25032395	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs559786725	chr6:25032401-25032402	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs76608483	chr6:25032415-25032416	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:101)

Disease	PMID	Source
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
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
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
Osteosarcoma	16790693	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	17133270	CNVD
Autism	22495311	CNVD
Burkitt''s lymphoma	19759907	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	16790693	CNVD
Breast cancer	22032731	CNVD
Cervical cancer	21062161	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
T-cell lymphomas	19863542	CNVD
Urothelial carcinoma	18382360	CNVD
Lung cancer	19153074	CNVD
Breast cancer	21364760	CNVD
Cancer	21183584	CNVD
Myelofibrosis	22110671	CNVD
Williams-beuren syndrome	16971481	CNVD
Uveal melanoma	20484589	CNVD
small cell lung cancer	20016488	CNVD
Chronic lymphocytic leukemia	20421269	CNVD

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:25011200-25035600	Weak transcription	Spleen	Spleen
2	chr6:25026400-25033600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr6:25028200-25032200	Weak transcription	Thymus	Thymus
4	chr6:25028200-25032400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr6:25028200-25033600	Weak transcription	Primary B cells from cord blood	blood
6	chr6:25028200-25033600	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr6:25028200-25034600	Weak transcription	Primary T cells from cord blood	blood
8	chr6:25028200-25035600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr6:25028200-25037600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr6:25028400-25033600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr6:25028400-25033600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr6:25028400-25033600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr6:25028600-25032400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr6:25028600-25032800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr6:25028600-25033000	Weak transcription	Primary B cells from peripheral blood	blood
16	chr6:25028600-25033200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
17	chr6:25028600-25033600	Weak transcription	Dnd41	blood
18	chr6:25028600-25034400	Weak transcription	Fetal Thymus	thymus
19	chr6:25028600-25034600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr6:25028800-25033600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr6:25029200-25032200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr6:25029600-25034600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr6:25030200-25033000	Strong transcription	Primary hematopoietic stem cells	blood
24	chr6:25030600-25032200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr6:25030600-25032400	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr6:25030600-25033200	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
27	chr6:25030600-25033600	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr6:25030800-25031400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr6:25030800-25031600	Strong transcription	Primary T cells fromperipheralblood	blood
30	chr6:25031400-25031600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr6:25031600-25032200	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr6:25031600-25032200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr6:25032200-25032800	Enhancers	Thymus	Thymus
34	chr6:25032200-25033600	Enhancers	Primary T cells fromperipheralblood	blood
35	chr6:25032200-25033600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr6:25032200-25034600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
37	chr6:25032200-25034600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr6:25032400-25032800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
39	chr6:25032400-25033000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr6:25032400-25034600	Enhancers	Primary T helper cells PMA-I stimulated	--
41	chr6:25032600-25032800	Enhancers	K562	blood
42	chr6:25032800-25034400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr6:25032800-25034600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr6:25032800-25034600	Weak transcription	Thymus	Thymus
45	chr6:25032800-25035000	Weak transcription	K562	blood
46	chr6:25033000-25033400	Weak transcription	Primary hematopoietic stem cells	blood
47	chr6:25033000-25033800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr6:25033000-25034600	Enhancers	Primary B cells from peripheral blood	blood

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