Variant report

Variant	esv1139161
Chromosome Location	chr17:37782659-37782663
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr17:37782605-37782894	H1-hESC	embryonic stem cell:	n/a	n/a
2	BHLHE40	chr17:37782250-37782877	K562	blood:	n/a	n/a
3	EGR1	chr17:37782438-37782918	K562	blood:	n/a	chr17:37782588-37782603 chr17:37782589-37782602 chr17:37782590-37782600 chr17:37782589-37782602
4	EGR1	chr17:37782443-37782877	K562	blood:	n/a	chr17:37782588-37782603 chr17:37782589-37782602 chr17:37782590-37782600 chr17:37782589-37782602
5	MAX	chr17:37782370-37782901	K562	blood:	n/a	n/a
6	NFIC	chr17:37782649-37783234	ECC-1	luminal epithelium:	n/a	n/a
7	PBX3	chr17:37782663-37782827	GM12878	blood:	n/a	n/a
8	POLR2A	chr17:37782409-37782710	H1-neurons	neurons:	n/a	n/a
9	POLR2A	chr17:37782395-37782872	H1-neurons	neurons:	n/a	n/a
10	ZNF263	chr17:37782469-37782768	HEK293-T-REx	kidney:	n/a	chr17:37782576-37782597

No.	Distal block	Cell Line	Cell type
1	chr17:37781012..37783798-chr17:37885303..37888164,4	K562	blood:
2	chr17:37782244..37782963-chr17:37790351..37790853,2	K562	blood:
3	chr17:37780595..37782911-chr17:37786267..37787886,2	MCF-7	breast:
4	chr17:37782428..37784390-chr17:37785390..37788111,2	K562	blood:
5	chr17:37777756..37783081-chr17:37819129..37825010,9	K562	blood:

Variant related genes	Relation type
PPP1R1B	TF binding region
ENSG00000141744	chromatin interactions
ENSG00000141741	chromatin interactions
ENSG00000173991	chromatin interactions
ENSG00000131771	chromatin interactions

Extended variants
information (count: 1 )
Associated
traits (count: 105 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs71147367	chr17:37782660-37782661	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:105)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
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
Breast cancer	17001317	CNVD
Breast cancer	17157792	CNVD
Bladder cancer	19088036	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
Meningioma	19431122	CNVD
Neurocytoma	17123091	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Gastric cancer	24379144	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Gastric cancer	18160780	CNVD
Hepatocellular carcinoma	16785998	CNVD
Breast cancer	17850661	CNVD
Primary lung adenocarcinoma	16799635	CNVD
HIV/AIDS	18848619	CNVD
Rheumatoid arthritis	19220326	CNVD
Rheumatoid arthritis	18848619	CNVD
Systemic lupus erythematosus	19220326	CNVD
Systemic lupus erythematosus	18848619	CNVD
Type 1 diabetes	19220326	CNVD
HIV/AIDS	17330138	CNVD
Basal cell lymphoma	17053054	CNVD
Autism	19955444	CNVD
Schizophrenia	19955444	CNVD
Acute monocytic leukemia	16498392	CNVD
Breast cancer	20409316	CNVD
Myelodysplastic syndrome	18663149	CNVD
Breast cancer	17457667	CNVD
Breast cancer	16951389	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16620391	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21509527	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
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Ovarian neoplasms	16753589	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Sezary syndrome	18413736	CNVD
Cancer	20164920	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:37775200-37782800	Weak transcription	Right Atrium	heart
2	chr17:37775400-37782800	Weak transcription	Right Ventricle	heart
3	chr17:37778800-37790600	Weak transcription	K562	blood
4	chr17:37780200-37783000	Weak transcription	Ovary	ovary
5	chr17:37780800-37783200	Enhancers	Esophagus	oesophagus
6	chr17:37781200-37783000	Bivalent Enhancer	Stomach Mucosa	stomach
7	chr17:37781400-37782800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
8	chr17:37781400-37783000	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr17:37781600-37782800	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr17:37781600-37782800	Bivalent Enhancer	NHEK	skin
11	chr17:37781600-37783000	Bivalent Enhancer	Fetal Muscle Leg	muscle
12	chr17:37781800-37783000	Bivalent Enhancer	Fetal Thymus	thymus
13	chr17:37781800-37783000	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
14	chr17:37782000-37782800	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 29	rectum
15	chr17:37782000-37782800	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 31	rectum
16	chr17:37782000-37783000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
17	chr17:37782200-37782800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
18	chr17:37782200-37783000	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
19	chr17:37782200-37783000	Bivalent Enhancer	HepG2	liver
20	chr17:37782400-37782800	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr17:37782400-37782800	Bivalent Enhancer	Primary T cells from cord blood	blood
22	chr17:37782400-37782800	Flanking Active TSS	Duodenum Mucosa	Duodenum
23	chr17:37782400-37783000	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr17:37782400-37783000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
25	chr17:37782400-37783000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
26	chr17:37782400-37783000	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
27	chr17:37782400-37783000	Bivalent Enhancer	Colon Smooth Muscle	Colon
28	chr17:37782400-37783200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
29	chr17:37782400-37783400	Bivalent/Poised TSS	Brain Anterior Caudate	brain
30	chr17:37782400-37783400	Bivalent/Poised TSS	Fetal Kidney	kidney
31	chr17:37782400-37783400	Flanking Bivalent TSS/Enh	Fetal Lung	lung
32	chr17:37782400-37783600	Enhancers	Gastric	stomach
33	chr17:37782400-37783800	Enhancers	Primary B cells from cord blood	blood
34	chr17:37782400-37784000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
35	chr17:37782400-37784400	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
36	chr17:37782400-37784600	Active TSS	Brain Angular Gyrus	brain
37	chr17:37782600-37782800	Flanking Bivalent TSS/Enh	ES-WA7 Cell Line	embryonic stem cell
38	chr17:37782600-37782800	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr17:37782600-37782800	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr17:37782600-37782800	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr17:37782600-37782800	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
42	chr17:37782600-37782800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
43	chr17:37782600-37782800	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
44	chr17:37782600-37782800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr17:37782600-37782800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr17:37782600-37782800	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
47	chr17:37782600-37782800	Flanking Active TSS	Fetal Brain Male	brain
48	chr17:37782600-37782800	Flanking Bivalent TSS/Enh	Rectal Smooth Muscle	rectum
49	chr17:37782600-37783000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
50	chr17:37782600-37783000	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell

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