Variant report

Variant	esv3322244
Chromosome Location	chr17:45785753-45787001
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:45757742..45760648-chr17:45785190..45787217,2	K562	blood:
2	chr17:45784180..45787003-chr17:45793281..45796210,2	MCF-7	breast:
3	chr17:45769737..45776634-chr17:45782264..45787954,12	K562	blood:
4	chr17:45777137..45782464-chr17:45784675..45788885,8	K562	blood:
5	chr17:45726608..45729781-chr17:45781854..45785868,4	K562	blood:
6	chr17:45784401..45787875-chr17:45788488..45791249,4	MCF-7	breast:
7	chr17:45785203..45787542-chr17:49025018..49027418,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000198933	chromatin interactions
ENSG00000263766	chromatin interactions
ENSG00000264558	chromatin interactions
ENSG00000108424	chromatin interactions

Extended variants
information (count: 34 )
Associated
traits (count: 118 )

Variant overlapped rSNPs/rCNVs (count:34 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550123962	chr17:45785753-45785754	Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs200861164	chr17:45785773-45785774	Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs372392812	chr17:45785784-45785785	Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs376035317	chr17:45785812-45785813	Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs560875634	chr17:45785827-45785828	Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs201033701	chr17:45785875-45785876	Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs371379664	chr17:45785877-45785878	Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs143009230	chr17:45785880-45785881	Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs370627101	chr17:45785884-45785885	Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs549625896	chr17:45785899-45785900	Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs374375608	chr17:45785911-45785912	Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs569112461	chr17:45785912-45785913	Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs113397805	chr17:45785929-45785930	Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs571407799	chr17:45785931-45785932	Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs200737389	chr17:45785958-45785959	Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs189495804	chr17:45785974-45785975	Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs181559327	chr17:45786011-45786012	Bivalent/Poised TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs185938851	chr17:45786166-45786167	Bivalent/Poised TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs539078137	chr17:45786389-45786390	Bivalent/Poised TSS Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs552675936	chr17:45786396-45786397	Bivalent/Poised TSS Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs4794057	chr17:45786452-45786453	Bivalent/Poised TSS Weak transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs535404323	chr17:45786511-45786512	Bivalent/Poised TSS Weak transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs369896558	chr17:45786519-45786520	Bivalent/Poised TSS Weak transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs575518699	chr17:45786520-45786521	Bivalent/Poised TSS Weak transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs544410447	chr17:45786563-45786564	Bivalent/Poised TSS Weak transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs80267077	chr17:45786621-45786622	Bivalent/Poised TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs578127897	chr17:45786628-45786629	Bivalent/Poised TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs200773924	chr17:45786765-45786766	Bivalent/Poised TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs536325111	chr17:45786829-45786830	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs112849908	chr17:45786840-45786841	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs113693372	chr17:45786864-45786865	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs529241239	chr17:45786940-45786941	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs554774896	chr17:45786965-45786966	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs73317913	chr17:45786985-45786986	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:118)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Ovarian cancer	22174824	CNVD
Melanoma	18172304	CNVD
Moyamoya disease	22323933	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ovarian cancer	21781307	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell lymphomas	19863542	CNVD
Cancer	16751803	CNVD
Chordoma	21602918	CNVD
Neurofibromatosis	20686819	CNVD
Peripheral nerve sheath tumors	20686819	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	17897457	CNVD
Neuroblastoma	17327916	CNVD
Breast cancer	21264507	CNVD
Endometrial cancer	22040021	CNVD
Neuroblastoma	21484798	CNVD
Breast cancer	22028636	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute myeloid leukemia	20724749	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Gastric cancer	17167181	CNVD
Breast cancer	19287154	CNVD
Leukemia	20874852	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Neuroblastoma	18664255	CNVD
Neuroblastoma	17533364	CNVD
Human rectal carcinomas	16397240	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Breast cancer	17457667	CNVD
Breast cancer	16951389	CNVD
Basal cell lymphoma	17053054	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22048815	CNVD
Breast cancer	17603634	CNVD
Follicular lymphoma	20505157	CNVD
Non-small cell lung cancer	20864512	CNVD
Cancer	21183584	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	20953835	CNVD
Thyroid cancer	19087340	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
TAR Syndrome	17847015	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	17850661	CNVD
Breast cancer	19261255	CNVD
Lung cancer	16773561	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Basal-like breast cancer	18066063	CNVD
Breast cancer	20031965	CNVD
Colorectal cancer	19287155	CNVD
Hereditary breast	19566914	CNVD
Ovarian cancer	19047089	CNVD
Ovarian cancer	19566914	CNVD
Triple-negative breast cancer	18950515	CNVD
Breast cancer	16846527	CNVD
Bladder cancer	21909424	CNVD
Chronic lymphocytic leukemia	21546498	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
T-cell prolymphocytic leukemia	17713554	CNVD
Ewing''s sarcoma	18628472	CNVD
Glioblastoma multiforme	18628472	CNVD
Leukemia	18628472	CNVD
Acute myeloid leukemia	21251322	CNVD
Ewing''s sarcoma	22429812	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	16397240	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	17217626	CNVD
Non-syndromic sensorineural hearing loss	21084979	CNVD
Autism	22817714	CNVD
Breast cancer	20409316	CNVD
Cancer	17160897	CNVD
Frontotemporal lobar degeneration	19640594	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21509527	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:256 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45773400-45790600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr17:45775000-45790800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr17:45778600-45786000	Weak transcription	Aorta	Aorta
4	chr17:45778600-45788200	Weak transcription	HUVEC	blood vessel
5	chr17:45779400-45785800	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr17:45779400-45786600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr17:45779400-45786800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr17:45779600-45788000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr17:45781400-45786000	Enhancers	Primary T cells fromperipheralblood	blood
10	chr17:45781600-45787000	Genic enhancers	Fetal Muscle Leg	muscle
11	chr17:45781800-45785800	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr17:45781800-45785800	Enhancers	Right Atrium	heart
13	chr17:45781800-45786000	Enhancers	Left Ventricle	heart
14	chr17:45781800-45786000	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr17:45781800-45786800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr17:45782400-45786000	Enhancers	Right Ventricle	heart
17	chr17:45782400-45786200	Enhancers	Fetal Heart	heart
18	chr17:45782600-45790000	Weak transcription	A549	lung
19	chr17:45783600-45785800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr17:45783800-45785800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr17:45783800-45785800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr17:45783800-45785800	Enhancers	Colon Smooth Muscle	Colon
23	chr17:45784000-45786200	Enhancers	Pancreas	Pancrea
24	chr17:45784000-45786600	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr17:45784200-45785800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr17:45784200-45785800	Weak transcription	Ovary	ovary
27	chr17:45784200-45785800	Enhancers	Sigmoid Colon	Sigmoid Colon
28	chr17:45784400-45786800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr17:45784400-45789600	Weak transcription	NHDF-Ad	bronchial
30	chr17:45784600-45785800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr17:45784600-45789000	Weak transcription	Thymus	Thymus
32	chr17:45784800-45786200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr17:45784800-45786800	Weak transcription	Adipose Nuclei	Adipose
34	chr17:45784800-45788800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr17:45784800-45789600	Weak transcription	GM12878-XiMat	blood
36	chr17:45784800-45790200	Weak transcription	Liver	Liver
37	chr17:45785000-45785800	Weak transcription	Gastric	stomach
38	chr17:45785000-45785800	Bivalent Enhancer	Stomach Mucosa	stomach
39	chr17:45785000-45787000	Weak transcription	Fetal Lung	lung
40	chr17:45785000-45789200	Weak transcription	Primary B cells from cord blood	blood
41	chr17:45785000-45791600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr17:45785200-45785800	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr17:45785200-45786000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr17:45785200-45786000	Weak transcription	Psoas Muscle	Psoas
45	chr17:45785200-45786200	Bivalent Enhancer	Fetal Brain Male	brain
46	chr17:45785200-45787000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr17:45785200-45787200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr17:45785200-45788400	Weak transcription	Primary B cells from peripheral blood	blood
49	chr17:45785200-45788400	Weak transcription	Fetal Thymus	thymus
50	chr17:45785200-45788600	Weak transcription	Primary T cells from cord blood	blood

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