Variant report

Variant	esv3425054
Chromosome Location	chr17:37752176-37754174
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

No data

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

No.	Distal block	Cell Line	Cell type
1	chr17:37752759..37755741-chr17:37758554..37761390,2	K562	blood:
2	chr17:37753002..37755741-chr17:37759105..37761390,2	K562	blood:
3	chr17:37748712..37751324-chr17:37752705..37755700,2	MCF-7	breast:
4	chr17:37753789..37756022-chr17:37842487..37844626,2	K562	blood:
5	chr17:37754053..37755569-chr17:37879843..37881401,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NEUROD2-1	chr17:37753794-37754003	XLOC_012462
2	lnc-NEUROD2-1	chr17:37754115-37754703	XLOC_012462

No data

Variant related genes	Relation type
ENSG00000161395	chromatin interactions
ENSG00000141736	chromatin interactions

Extended variants
information (count: 76 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:76 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs71369777	chr17:37752205-37752206	Bivalent Enhancer Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs538788810	chr17:37752278-37752279	Bivalent Enhancer Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs562346550	chr17:37752302-37752303	Bivalent Enhancer Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs529105421	chr17:37752345-37752346	Bivalent Enhancer Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs369480889	chr17:37752415-37752416	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs75106912	chr17:37752430-37752431	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs543232939	chr17:37752443-37752444	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs555161026	chr17:37752507-37752508	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs576812082	chr17:37752555-37752556	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs184866307	chr17:37752573-37752574	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs544066423	chr17:37752596-37752597	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs574481761	chr17:37752597-37752598	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs562361151	chr17:37752638-37752639	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs532927951	chr17:37752650-37752651	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs73985210	chr17:37752673-37752674	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs559814870	chr17:37752685-37752686	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs527527104	chr17:37752717-37752718	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs370574205	chr17:37752766-37752767	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs77849840	chr17:37752898-37752899	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs531515510	chr17:37752910-37752911	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs371957	chr17:37752915-37752916	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs145048072	chr17:37752917-37752918	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs571579300	chr17:37752933-37752934	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs371902	chr17:37752962-37752963	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs539019969	chr17:37753068-37753069	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs191651164	chr17:37753095-37753096	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs375374090	chr17:37753109-37753110	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs187953732	chr17:37753161-37753162	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs145689761	chr17:37753210-37753211	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs368042328	chr17:37753233-37753234	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs555224347	chr17:37753234-37753235	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs370190460	chr17:37753249-37753250	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs373698222	chr17:37753251-37753252	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs559184472	chr17:37753261-37753262	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs577614577	chr17:37753340-37753341	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs544981681	chr17:37753351-37753352	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs559681062	chr17:37753368-37753369	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs57541860	chr17:37753369-37753370	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs528406856	chr17:37753442-37753443	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs7504080	chr17:37753458-37753459	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs551628138	chr17:37753494-37753495	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs3907837	chr17:37753499-37753500	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs368705622	chr17:37753506-37753507	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs549852432	chr17:37753519-37753520	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs565175563	chr17:37753545-37753546	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs532265414	chr17:37753549-37753550	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs547815952	chr17:37753550-37753551	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs566052410	chr17:37753593-37753594	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs536760794	chr17:37753604-37753605	Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs577682820	chr17:37753614-37753615	Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription	n/a	n/a	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:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:37748800-37754400	Weak transcription	Pancreas	Pancrea
2	chr17:37751200-37756000	Bivalent Enhancer	Fetal Brain Male	brain
3	chr17:37751400-37752200	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr17:37751400-37752600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
5	chr17:37751400-37753200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
6	chr17:37751400-37755000	Bivalent Enhancer	Brain Germinal Matrix	brain
7	chr17:37751800-37752800	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr17:37752000-37752200	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
9	chr17:37752000-37752200	Bivalent Enhancer	Fetal Brain Female	brain
10	chr17:37752000-37753000	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
11	chr17:37752200-37753200	Flanking Active TSS	Fetal Brain Female	brain
12	chr17:37752200-37753600	Bivalent Enhancer	HSMMtube	muscle
13	chr17:37752400-37752600	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
14	chr17:37752400-37752600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
15	chr17:37752400-37754800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
16	chr17:37752600-37752800	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
17	chr17:37752800-37753000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr17:37752800-37753000	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
19	chr17:37752800-37753000	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
20	chr17:37752800-37753000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr17:37752800-37753000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr17:37752800-37753000	Bivalent Enhancer	Placenta	Placenta
23	chr17:37752800-37753000	Bivalent Enhancer	Spleen	Spleen
24	chr17:37752800-37753200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
25	chr17:37752800-37753200	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr17:37752800-37753200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr17:37752800-37753400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr17:37752800-37753400	Bivalent Enhancer	HSMM	muscle
29	chr17:37752800-37753600	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
30	chr17:37752800-37754400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
31	chr17:37752800-37755600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
32	chr17:37752800-37756400	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
33	chr17:37752800-37756800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
34	chr17:37752800-37757800	Bivalent Enhancer	Fetal Muscle Leg	muscle
35	chr17:37752800-37760200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
36	chr17:37753000-37753200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr17:37753000-37753200	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
38	chr17:37753000-37753400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
39	chr17:37753000-37753400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr17:37753200-37753400	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
41	chr17:37753200-37753400	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
42	chr17:37753200-37753400	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr17:37753200-37753400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
44	chr17:37753200-37753400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
45	chr17:37753200-37753400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
46	chr17:37753200-37753400	Bivalent Enhancer	Brain Hippocampus Middle	brain
47	chr17:37753200-37753400	Bivalent Enhancer	Brain Inferior Temporal Lobe	brain
48	chr17:37753200-37753400	Active TSS	Fetal Brain Female	brain
49	chr17:37753200-37756400	Bivalent Enhancer	Left Ventricle	heart
50	chr17:37753400-37753600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell

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