Variant report

Variant	esv3372298
Chromosome Location	chr6:44358274-44359622
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:44357790..44359510-chr6:44364205..44366302,2	K562	blood:
2	chr6:44356556..44360481-chr6:44380097..44385414,6	K562	blood:
3	chr6:44355391..44357263-chr6:44358949..44363275,4	MCF-7	breast:
4	chr6:44275712..44278535-chr6:44356876..44358602,2	K562	blood:
5	chr6:44356285..44358292-chr6:44361831..44365473,3	K562	blood:
6	chr6:44356394..44359367-chr6:44380277..44384190,3	K562	blood:
7	chr6:44307682..44310665-chr6:44355077..44358723,3	K562	blood:

Variant related genes	Relation type
ENSG00000249481	chromatin interactions

Extended variants
information (count: 66 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:66 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368474376	chr6:44358282-44358283	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs542861350	chr6:44358285-44358286	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs570166814	chr6:44358295-44358296	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs562953061	chr6:44358300-44358301	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs576507213	chr6:44358311-44358312	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs72866251	chr6:44358334-44358335	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs549403238	chr6:44358346-44358347	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs567853289	chr6:44358350-44358351	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs145618400	chr6:44358386-44358387	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs553557131	chr6:44358392-44358393	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs578228568	chr6:44358409-44358410	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs9369481	chr6:44358444-44358445	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs115025978	chr6:44358448-44358449	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs376816944	chr6:44358483-44358484	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs60563618	chr6:44358542-44358543	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs36077616	chr6:44358603-44358604	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs564972977	chr6:44358612-44358613	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs200957100	chr6:44358620-44358621	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs543043153	chr6:44358642-44358643	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs544292745	chr6:44358643-44358644	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs375584909	chr6:44358648-44358649	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs562469792	chr6:44358667-44358668	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs574569462	chr6:44358679-44358680	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs538903028	chr6:44358689-44358690	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs368110794	chr6:44358693-44358694	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs560302449	chr6:44358706-44358707	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs13212362	chr6:44358781-44358782	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs13198142	chr6:44358782-44358783	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs201682792	chr6:44358807-44358808	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs367675269	chr6:44358808-44358809	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs13212379	chr6:44358813-44358814	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs13198165	chr6:44358814-44358815	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs57074178	chr6:44358828-44358829	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs368722929	chr6:44358843-44358844	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs199952018	chr6:44358864-44358865	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs9381317	chr6:44358875-44358876	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs564104690	chr6:44358876-44358877	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs531629151	chr6:44358889-44358890	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs35587258	chr6:44358898-44358899	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs191142622	chr6:44358919-44358920	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs560033926	chr6:44358938-44358939	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs9462986	chr6:44358950-44358951	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs148274481	chr6:44359008-44359009	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs529046849	chr6:44359025-44359026	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs551192972	chr6:44359046-44359047	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs7770054	chr6:44359078-44359079	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs141387932	chr6:44359086-44359087	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs369157873	chr6:44359146-44359147	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs150794873	chr6:44359175-44359176	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs535307357	chr6:44359230-44359231	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

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
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
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
Gastric cancer	17908304	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Cleidocranial dysplasia	18696259	CNVD
Holoprosencephaly	21359414	CNVD
Liposarcoma	21253554	CNVD
Uveal melanoma	20484589	CNVD
Fibroblasts	20926602	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
Acute lymphoblastic leukemia	22237106	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
Osteosarcoma	21197465	CNVD
Gastric cancer	24379144	CNVD
Neuroblastoma	18923191	CNVD
abnormal development	18461090	CNVD
Breast cancer	17603634	CNVD
Breast cancer	21364760	CNVD
Urothelial carcinoma	21177765	CNVD
Colorectal cancer	16790693	CNVD
Congenital adrenal hyperplasia	18478071	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Systemic lupus erythematosus	19287148	CNVD
Colorectal cancer	19359472	CNVD
Multiple myeloma	16616336	CNVD
Chordoma	18071362	CNVD
Follicular lymphoma	16790693	CNVD
Osteosarcoma	19286668	CNVD
Neurocytoma	17123091	CNVD
Myelofibrosis	22110671	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Ovarian cancer	20844748	CNVD
Cancer	20164920	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD

Chromatin state (count:252 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:44356000-44358400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr6:44356200-44359200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr6:44356400-44358400	Enhancers	Aorta	Aorta
4	chr6:44356400-44358800	Weak transcription	Lung	lung
5	chr6:44356400-44359200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr6:44356400-44359400	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr6:44356400-44361800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr6:44356400-44364800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr6:44356400-44393800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr6:44356600-44358400	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr6:44356600-44358400	Enhancers	Small Intestine	intestine
12	chr6:44356600-44358800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr6:44356800-44358400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr6:44356800-44358400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr6:44356800-44358400	Flanking Active TSS	Fetal Brain Female	brain
16	chr6:44357000-44358400	Enhancers	Primary T helper naive cells from peripheral blood	blood
17	chr6:44357000-44358400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
18	chr6:44357000-44358400	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr6:44357000-44358400	Enhancers	Fetal Brain Male	brain
20	chr6:44357000-44358400	Enhancers	Fetal Intestine Small	intestine
21	chr6:44357000-44358400	Enhancers	Fetal Kidney	kidney
22	chr6:44357000-44358400	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
23	chr6:44357000-44359200	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr6:44357000-44359200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr6:44357000-44359200	Weak transcription	HSMMtube	muscle
26	chr6:44357200-44358400	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr6:44357200-44358400	Enhancers	Brain Angular Gyrus	brain
28	chr6:44357200-44358400	Genic enhancers	Brain Cingulate Gyrus	brain
29	chr6:44357200-44358400	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
30	chr6:44357200-44358400	Enhancers	Fetal Lung	lung
31	chr6:44357200-44358400	Genic enhancers	Skeletal Muscle Female	skeletal muscle
32	chr6:44357200-44358400	Transcr. at gene 5' and 3'	Dnd41	blood
33	chr6:44357200-44358600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
34	chr6:44357200-44359200	Weak transcription	NHDF-Ad	bronchial
35	chr6:44357200-44359400	Genic enhancers	Primary T helper cells fromperipheralblood	blood
36	chr6:44357200-44360400	Weak transcription	Colonic Mucosa	Colon
37	chr6:44357200-44361400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr6:44357200-44376200	Weak transcription	Stomach Mucosa	stomach
39	chr6:44357400-44358400	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr6:44357400-44358400	Transcr. at gene 5' and 3'	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr6:44357400-44358600	Enhancers	Primary hematopoietic stem cells	blood
42	chr6:44357400-44358600	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
43	chr6:44357400-44358800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr6:44357400-44359000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr6:44357400-44359000	Weak transcription	Ovary	ovary
46	chr6:44357400-44359000	Weak transcription	Pancreas	Pancrea
47	chr6:44357400-44359200	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr6:44357400-44359400	Weak transcription	Esophagus	oesophagus
49	chr6:44357400-44359400	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr6:44357400-44360000	Weak transcription	Primary B cells from cord blood	blood

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