Variant report

Variant	nsv961700
Chromosome Location	chr2:101160858-101173899
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	BHLHE40	chr2:101171499-101171520	K562	blood:	n/a	n/a
2	CEBPB	chr2:101170586-101170767	K562	blood:	n/a	n/a
3	CEBPB	chr2:101162175-101162364	HepG2	liver:	n/a	n/a
4	CTCF	chr2:101171255-101171382	K562	blood:	n/a	n/a
5	CTCF	chr2:101171325-101171439	GM12891	blood:	n/a	n/a
6	CTCF	chr2:101172762-101172800	GM20000	blood:	n/a	n/a
7	CTCF	chr2:101171330-101171450	Spleen_OC	spleen:	n/a	n/a
8	CTCF	chr2:101171180-101171330	GM12871	blood:	n/a	n/a
9	CUX1	chr2:101162294-101162298	K562	blood:	n/a	n/a
10	E2F6	chr2:101171464-101171579	K562	blood:	n/a	chr2:101171493-101171502
11	ELF1	chr2:101171261-101171628	K562	blood:	n/a	chr2:101171473-101171484 chr2:101171471-101171484 chr2:101171472-101171483
12	ELF1	chr2:101171231-101171647	GM12878	blood:	n/a	chr2:101171473-101171484 chr2:101171471-101171484 chr2:101171472-101171483
13	FOXA1	chr2:101162029-101162360	HepG2	liver:	n/a	n/a
14	FOXA2	chr2:101162112-101162369	HepG2	liver:	n/a	n/a
15	GTF2F1	chr2:101171500-101171507	K562	blood:	n/a	n/a
16	JUND	chr2:101171456-101171630	K562	blood:	n/a	n/a
17	MAFF	chr2:101161697-101162025	HepG2	liver:	n/a	chr2:101161862-101161880
18	MAFK	chr2:101161691-101162020	HepG2	liver:	n/a	chr2:101161863-101161878 chr2:101161858-101161878
19	MAFK	chr2:101161741-101161892	Hela-S3	cervix:	n/a	chr2:101161863-101161878 chr2:101161858-101161878
20	MAFK	chr2:101161790-101161996	IMR90	lung:	n/a	chr2:101161863-101161878 chr2:101161858-101161878
21	MAFK	chr2:101161696-101162042	HepG2	liver:	n/a	chr2:101161863-101161878 chr2:101161858-101161878
22	MAX	chr2:101161866-101162020	H1-hESC	embryonic stem cell:	n/a	n/a
23	MAZ	chr2:101171372-101171572	K562	blood:	n/a	n/a
24	MYC	chr2:101171488-101171662	NB4	blood:	n/a	n/a
25	RCOR1	chr2:101171364-101171636	K562	blood:	n/a	n/a
26	SPI1	chr2:101162994-101163190	K562	blood:	n/a	chr2:101163122-101163131 chr2:101163121-101163134 chr2:101163120-101163133
27	SPI1	chr2:101163024-101163216	GM12878	blood:	n/a	chr2:101163122-101163131 chr2:101163121-101163134 chr2:101163120-101163133
28	SPI1	chr2:101171179-101171699	GM12878	blood:	n/a	chr2:101171471-101171484 chr2:101171471-101171484 chr2:101171474-101171483 chr2:101171472-101171485
29	SPI1	chr2:101171276-101171648	GM12891	blood:	n/a	chr2:101171471-101171484 chr2:101171471-101171484 chr2:101171474-101171483 chr2:101171472-101171485
30	SPI1	chr2:101171310-101171646	K562	blood:	n/a	chr2:101171471-101171484 chr2:101171471-101171484 chr2:101171474-101171483 chr2:101171472-101171485
31	SPI1	chr2:101171390-101171627	K562	blood:	n/a	chr2:101171471-101171484 chr2:101171471-101171484 chr2:101171474-101171483 chr2:101171472-101171485
32	SPI1	chr2:101162976-101163332	HL-60	blood:	n/a	chr2:101163122-101163131 chr2:101163121-101163134 chr2:101163120-101163133
33	SPI1	chr2:101171222-101171785	HL-60	blood:	n/a	chr2:101171471-101171484 chr2:101171471-101171484 chr2:101171474-101171483 chr2:101171472-101171485
34	SPI1	chr2:101171351-101171578	GM12878	blood:	n/a	chr2:101171471-101171484 chr2:101171471-101171484 chr2:101171474-101171483 chr2:101171472-101171485
35	SPI1	chr2:101162909-101163211	HL-60	blood:	n/a	chr2:101163122-101163131 chr2:101163121-101163134 chr2:101163120-101163133
36	SPI1	chr2:101171238-101171708	HL-60	blood:	n/a	chr2:101171471-101171484 chr2:101171471-101171484 chr2:101171474-101171483 chr2:101171472-101171485
37	SPI1	chr2:101171347-101171642	GM12878	blood:	n/a	chr2:101171471-101171484 chr2:101171471-101171484 chr2:101171474-101171483 chr2:101171472-101171485
38	SPI1	chr2:101171205-101171691	GM12891	blood:	n/a	chr2:101171471-101171484 chr2:101171471-101171484 chr2:101171474-101171483 chr2:101171472-101171485
39	STAT3	chr2:101169579-101169585	MCF10A-Er-Src	breast:	n/a	n/a
40	TBP	chr2:101161789-101161873	K562	blood:	n/a	n/a
41	TEAD4	chr2:101171352-101171703	K562	blood:	n/a	n/a
42	UBTF	chr2:101171406-101171408	K562	blood:	n/a	n/a
43	YY1	chr2:101170468-101170608	K562	blood:	n/a	n/a
44	ZNF143	chr2:101171472-101171504	K562	blood:	n/a	chr2:101171484-101171502
45	ZNF384	chr2:101166217-101166302	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:101148585..101151519-chr2:101160434..101163318,2	K562	blood:
2	chr2:101170496..101172300-chr2:101184687..101186587,2	K562	blood:
3	chr2:101168802..101170842-chr2:101177618..101179671,2	MCF-7	breast:
4	chr2:101162282..101164234-chr2:101167765..101170231,2	K562	blood:
5	chr2:101162282..101164234-chr2:101167765..101170231,2	K562	blood:
6	chr2:101058472..101060178-chr2:101158909..101160957,2	MCF-7	breast:
7	chr2:101168787..101171601-chr2:101616547..101618990,2	K562	blood:
8	chr2:101173110..101176005-chr2:101176273..101179578,3	MCF-7	breast:
9	chr2:101165305..101167071-chr2:101179398..101180985,2	MCF-7	breast:
10	chr2:101164431..101166078-chr2:101177913..101179569,2	K562	blood:
11	chr2:101173640..101176087-chr2:101178117..101180155,3	MCF-7	breast:
12	chr2:101161687..101164111-chr2:101178480..101180693,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CHST10-3	chr2:101168991-101171100	l_1898_chr2:101168990-101174253_ovary
2	lnc-CHST10-3	chr2:101171136-101171222	l_1898_chr2:101168990-101174253_ovary
3	lnc-PDCL3-2	chr2:101172512-101172782	NONHSAT072779

Variant related genes	Relation type
RN7SL611P	TF binding region
ENSG00000115539	chromatin interactions
ENSG00000071082	chromatin interactions
ENSG00000223947	chromatin interactions

Extended variants
information (count: 378 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:378 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9917224	chr2:101161050-101161051	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs11678434	chr2:101161081-101161082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs148238125	chr2:101161089-101161090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs374818842	chr2:101161116-101161117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs556855699	chr2:101161121-101161122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs570164310	chr2:101161157-101161158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs535941244	chr2:101161187-101161188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs555842654	chr2:101161194-101161195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs572421579	chr2:101161195-101161196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs541764035	chr2:101161197-101161198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs558403575	chr2:101161211-101161212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs531841640	chr2:101161262-101161263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs13393125	chr2:101161277-101161278	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs185094684	chr2:101161288-101161289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs150417218	chr2:101161327-101161328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs542269157	chr2:101161328-101161329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs558933847	chr2:101161356-101161357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs374619900	chr2:101161363-101161364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs551406954	chr2:101161368-101161369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs562261931	chr2:101161370-101161371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs188768170	chr2:101161387-101161388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs548456360	chr2:101161390-101161391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs545219190	chr2:101161616-101161617	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs187208842	chr2:101161628-101161629	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs138154224	chr2:101161705-101161706	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs1114285	chr2:101161725-101161726	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs558994299	chr2:101161748-101161749	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs192089459	chr2:101161756-101161757	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs181802034	chr2:101161786-101161787	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs564716531	chr2:101161790-101161791	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs1401753	chr2:101161798-101161799	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs186830086	chr2:101161799-101161800	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs142808112	chr2:101161990-101161991	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs529888156	chr2:101162012-101162013	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs546796873	chr2:101162094-101162095	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs6730933	chr2:101162104-101162105	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs34247189	chr2:101162128-101162129	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs570142949	chr2:101162151-101162152	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs139031162	chr2:101162187-101162188	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs534799646	chr2:101162267-101162268	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs551803069	chr2:101162286-101162287	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs190237696	chr2:101162315-101162316	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs371606807	chr2:101162316-101162317	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs537760139	chr2:101162318-101162319	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs182448637	chr2:101162319-101162320	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs186819158	chr2:101162327-101162328	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs61509237	chr2:101162328-101162329	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs536473537	chr2:101162359-101162360	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs35215507	chr2:101162394-101162395	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs376321620	chr2:101162420-101162421	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:51)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	17483303	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Ovarian cancer	21781307	CNVD
Lung cancer	18438408	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21509527	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Glioblastoma multiforme	21138945	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:101161000-101161400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr2:101161600-101162200	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr2:101161600-101165200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr2:101161800-101162200	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr2:101161800-101162400	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr2:101162800-101163600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr2:101163000-101163400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr2:101163200-101163600	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr2:101163800-101164600	Enhancers	Brain Hippocampus Middle	brain
10	chr2:101164400-101165000	Enhancers	Brain Cingulate Gyrus	brain
11	chr2:101164400-101165000	Enhancers	Brain Inferior Temporal Lobe	brain
12	chr2:101164400-101165400	Enhancers	Brain Angular Gyrus	brain
13	chr2:101164400-101165600	Enhancers	Brain Substantia Nigra	brain
14	chr2:101164600-101165200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
15	chr2:101164600-101165400	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr2:101164600-101165400	Enhancers	Brain Anterior Caudate	brain
17	chr2:101164600-101165400	Flanking Active TSS	Brain Hippocampus Middle	brain
18	chr2:101164800-101165800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr2:101165000-101165400	Enhancers	H9 Cell Line	embryonic stem cell
20	chr2:101165000-101165400	Flanking Active TSS	Brain Cingulate Gyrus	brain
21	chr2:101165000-101165400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
22	chr2:101165000-101165600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr2:101165000-101165600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr2:101165000-101165800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr2:101165200-101165400	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr2:101165200-101165600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr2:101165200-101165800	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr2:101165200-101166400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr2:101165400-101165600	Enhancers	Brain Hippocampus Middle	brain
30	chr2:101165400-101165600	Enhancers	Brain Inferior Temporal Lobe	brain
31	chr2:101165400-101166600	Weak transcription	Brain Anterior Caudate	brain
32	chr2:101165400-101166800	Enhancers	Brain Cingulate Gyrus	brain
33	chr2:101165600-101166000	Weak transcription	Brain Hippocampus Middle	brain
34	chr2:101165600-101166000	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr2:101165600-101166000	Weak transcription	Brain Substantia Nigra	brain
36	chr2:101166000-101166600	Enhancers	Brain Hippocampus Middle	brain
37	chr2:101166000-101166800	Enhancers	Brain Inferior Temporal Lobe	brain
38	chr2:101166000-101166800	Enhancers	Brain Substantia Nigra	brain
39	chr2:101166600-101166800	Enhancers	Brain Anterior Caudate	brain
40	chr2:101170400-101171200	Enhancers	Primary T helper naive cells from peripheral blood	blood
41	chr2:101170400-101171200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
42	chr2:101170600-101171200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
43	chr2:101170600-101171400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
44	chr2:101170800-101171200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
45	chr2:101170800-101171400	Enhancers	Primary T cells fromperipheralblood	blood
46	chr2:101170800-101172000	Enhancers	Primary T cells from cord blood	blood
47	chr2:101170800-101172000	Enhancers	Primary T killer memory cells from peripheral blood	blood
48	chr2:101170800-101173400	Enhancers	Primary T helper cells fromperipheralblood	blood
49	chr2:101171000-101171200	Enhancers	Primary T helper cells PMA-I stimulated	--
50	chr2:101171000-101171200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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