Variant report

Variant	esv3444045
Chromosome Location	chr17:37622519-37622959
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	ZNF384	chr17:37622810-37622999	K562	blood:	n/a	n/a
2	ZNF384	chr17:37622896-37623019	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:37618970..37621039-chr17:37622079..37624596,3	MCF-7	breast:
2	chr17:37621427..37623786-chr17:37626358..37629657,3	MCF-7	breast:
3	chr17:37616532..37619148-chr17:37622175..37626239,3	MCF-7	breast:

Variant related genes	Relation type
CDK12	TF binding region
ENSG00000167258	chromatin interactions

Extended variants
information (count: 28 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185280429	chr17:37622526-37622527	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs370044004	chr17:37622560-37622561	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs574279213	chr17:37622593-37622594	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs544911816	chr17:37622603-37622604	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs556543143	chr17:37622605-37622606	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs12948842	chr17:37622634-37622635	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs539469784	chr17:37622657-37622658	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs144516165	chr17:37622674-37622675	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs12951069	chr17:37622699-37622700	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs12951071	chr17:37622701-37622702	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs67437568	chr17:37622725-37622726	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs544814044	chr17:37622759-37622760	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs62075056	chr17:37622794-37622795	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs191506089	chr17:37622801-37622802	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs12940881	chr17:37622814-37622815	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs529053156	chr17:37622815-37622816	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs550868471	chr17:37622818-37622819	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs569017682	chr17:37622830-37622831	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs12940918	chr17:37622862-37622863	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs559881313	chr17:37622869-37622870	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs111630657	chr17:37622870-37622871	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs76168814	chr17:37622887-37622888	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs549053846	chr17:37622888-37622889	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs79681829	chr17:37622898-37622899	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs78178368	chr17:37622901-37622902	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs71147339	chr17:37622902-37622903	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs533159505	chr17:37622929-37622930	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs551360598	chr17:37622931-37622932	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	TF binding region Chromatin interactive region	2 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:130 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:37619600-37627200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr17:37619800-37627200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr17:37619800-37649200	Weak transcription	Esophagus	oesophagus
4	chr17:37620200-37622600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr17:37620200-37627200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr17:37620400-37627400	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr17:37620400-37650600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr17:37620600-37623600	Weak transcription	Fetal Heart	heart
9	chr17:37620600-37625400	Weak transcription	NHDF-Ad	bronchial
10	chr17:37620800-37625200	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr17:37620800-37626800	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr17:37620800-37627200	Weak transcription	Rectal Smooth Muscle	rectum
13	chr17:37621000-37623400	Weak transcription	Fetal Muscle Leg	muscle
14	chr17:37621000-37623600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr17:37621000-37623600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr17:37621000-37623600	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr17:37621000-37623600	Weak transcription	Fetal Kidney	kidney
18	chr17:37621000-37626600	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr17:37621000-37626800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr17:37621000-37627000	Weak transcription	HSMMtube	muscle
21	chr17:37621000-37627200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr17:37621000-37627200	Weak transcription	Right Ventricle	heart
23	chr17:37621000-37627600	Weak transcription	Colonic Mucosa	Colon
24	chr17:37621200-37623800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr17:37621200-37624000	Weak transcription	Osteobl	bone
26	chr17:37621200-37624400	Enhancers	Primary T helper cells fromperipheralblood	blood
27	chr17:37621200-37625200	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr17:37621200-37626800	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr17:37621200-37626800	Weak transcription	Colon Smooth Muscle	Colon
30	chr17:37621200-37626800	Weak transcription	HMEC	breast
31	chr17:37621200-37627000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr17:37621200-37627000	Weak transcription	Brain Substantia Nigra	brain
33	chr17:37621200-37627200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr17:37621200-37627200	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr17:37621200-37627200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr17:37621200-37627200	Weak transcription	Aorta	Aorta
37	chr17:37621200-37627200	Weak transcription	Gastric	stomach
38	chr17:37621200-37627200	Weak transcription	Psoas Muscle	Psoas
39	chr17:37621400-37623400	Weak transcription	Fetal Intestine Large	intestine
40	chr17:37621400-37626000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr17:37621400-37626200	Strong transcription	Fetal Intestine Small	intestine
42	chr17:37621400-37630400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr17:37621600-37622800	Enhancers	Primary T cells fromperipheralblood	blood
44	chr17:37621600-37626800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr17:37621600-37627200	Weak transcription	Thymus	Thymus
46	chr17:37621800-37622600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
47	chr17:37621800-37624400	Weak transcription	HUVEC	blood vessel
48	chr17:37621800-37626800	Weak transcription	Primary hematopoietic stem cells	blood
49	chr17:37621800-37626800	Weak transcription	NH-A	brain
50	chr17:37621800-37626800	Weak transcription	NHEK	skin

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