Variant report

Variant	esv2762269
Chromosome Location	chr2:101163732-101173190
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	CTCF	chr2:101171330-101171450	Spleen_OC	spleen:	n/a	n/a
4	CTCF	chr2:101171180-101171330	GM12871	blood:	n/a	n/a
5	CTCF	chr2:101171255-101171382	K562	blood:	n/a	n/a
6	CTCF	chr2:101171325-101171439	GM12891	blood:	n/a	n/a
7	CTCF	chr2:101172762-101172800	GM20000	blood:	n/a	n/a
8	E2F6	chr2:101171464-101171579	K562	blood:	n/a	chr2:101171493-101171502
9	ELF1	chr2:101171261-101171628	K562	blood:	n/a	chr2:101171473-101171484 chr2:101171471-101171484 chr2:101171472-101171483
10	ELF1	chr2:101171231-101171647	GM12878	blood:	n/a	chr2:101171473-101171484 chr2:101171471-101171484 chr2:101171472-101171483
11	GTF2F1	chr2:101171500-101171507	K562	blood:	n/a	n/a
12	JUND	chr2:101171456-101171630	K562	blood:	n/a	n/a
13	MAZ	chr2:101171372-101171572	K562	blood:	n/a	n/a
14	MYC	chr2:101171488-101171662	NB4	blood:	n/a	n/a
15	RCOR1	chr2:101171364-101171636	K562	blood:	n/a	n/a
16	SPI1	chr2:101171390-101171627	K562	blood:	n/a	chr2:101171471-101171484 chr2:101171471-101171484 chr2:101171474-101171483 chr2:101171472-101171485
17	SPI1	chr2:101171276-101171648	GM12891	blood:	n/a	chr2:101171471-101171484 chr2:101171471-101171484 chr2:101171474-101171483 chr2:101171472-101171485
18	SPI1	chr2:101171351-101171578	GM12878	blood:	n/a	chr2:101171471-101171484 chr2:101171471-101171484 chr2:101171474-101171483 chr2:101171472-101171485
19	SPI1	chr2:101171310-101171646	K562	blood:	n/a	chr2:101171471-101171484 chr2:101171471-101171484 chr2:101171474-101171483 chr2:101171472-101171485
20	SPI1	chr2:101171179-101171699	GM12878	blood:	n/a	chr2:101171471-101171484 chr2:101171471-101171484 chr2:101171474-101171483 chr2:101171472-101171485
21	SPI1	chr2:101171347-101171642	GM12878	blood:	n/a	chr2:101171471-101171484 chr2:101171471-101171484 chr2:101171474-101171483 chr2:101171472-101171485
22	SPI1	chr2:101171205-101171691	GM12891	blood:	n/a	chr2:101171471-101171484 chr2:101171471-101171484 chr2:101171474-101171483 chr2:101171472-101171485
23	SPI1	chr2:101171222-101171785	HL-60	blood:	n/a	chr2:101171471-101171484 chr2:101171471-101171484 chr2:101171474-101171483 chr2:101171472-101171485
24	SPI1	chr2:101171238-101171708	HL-60	blood:	n/a	chr2:101171471-101171484 chr2:101171471-101171484 chr2:101171474-101171483 chr2:101171472-101171485
25	STAT3	chr2:101169579-101169585	MCF10A-Er-Src	breast:	n/a	n/a
26	TEAD4	chr2:101171352-101171703	K562	blood:	n/a	n/a
27	UBTF	chr2:101171406-101171408	K562	blood:	n/a	n/a
28	YY1	chr2:101170468-101170608	K562	blood:	n/a	n/a
29	ZNF143	chr2:101171472-101171504	K562	blood:	n/a	chr2:101171484-101171502
30	ZNF384	chr2:101166217-101166302	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:101165305..101167071-chr2:101179398..101180985,2	MCF-7	breast:
2	chr2:101162282..101164234-chr2:101167765..101170231,2	K562	blood:
3	chr2:101168802..101170842-chr2:101177618..101179671,2	MCF-7	breast:
4	chr2:101170496..101172300-chr2:101184687..101186587,2	K562	blood:
5	chr2:101173110..101176005-chr2:101176273..101179578,3	MCF-7	breast:
6	chr2:101168787..101171601-chr2:101616547..101618990,2	K562	blood:
7	chr2:101162282..101164234-chr2:101167765..101170231,2	K562	blood:
8	chr2:101161687..101164111-chr2:101178480..101180693,2	MCF-7	breast:
9	chr2:101164431..101166078-chr2:101177913..101179569,2	K562	blood:

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

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

Extended variants
information (count: 253 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:253 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543665701	chr2:101163751-101163752	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs560400948	chr2:101163822-101163823	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs188788303	chr2:101163825-101163826	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs532176243	chr2:101163846-101163847	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs4461279	chr2:101163919-101163920	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs545507738	chr2:101163926-101163927	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs565261545	chr2:101163929-101163930	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs531017232	chr2:101163943-101163944	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs550599780	chr2:101163958-101163959	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs567316223	chr2:101163973-101163974	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs111820201	chr2:101164023-101164024	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs193227275	chr2:101164044-101164045	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs567068552	chr2:101164118-101164119	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs185236508	chr2:101164124-101164125	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs187474871	chr2:101164125-101164126	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs541788579	chr2:101164167-101164168	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs145054976	chr2:101164181-101164182	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs147557577	chr2:101164225-101164226	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs191878524	chr2:101164235-101164236	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs142292877	chr2:101164253-101164254	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs540551996	chr2:101164254-101164255	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs554082836	chr2:101164268-101164269	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs577043271	chr2:101164275-101164276	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs545712443	chr2:101164300-101164301	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs562692481	chr2:101164329-101164330	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs530951099	chr2:101164343-101164344	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs5832921	chr2:101164398-101164399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs397985308	chr2:101164419-101164420	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs544251853	chr2:101164425-101164426	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs560955799	chr2:101164714-101164715	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs3927268	chr2:101164724-101164725	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs117698426	chr2:101164733-101164734	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs546909178	chr2:101164764-101164765	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs1533655	chr2:101164813-101164814	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs10200086	chr2:101164891-101164892	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs375157455	chr2:101164935-101164936	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs184175948	chr2:101164944-101164945	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs537951702	chr2:101164979-101164980	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs554673904	chr2:101164997-101164998	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs369400769	chr2:101165082-101165083	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs568086852	chr2:101165105-101165106	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs34429335	chr2:101165131-101165132	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs548138171	chr2:101165300-101165301	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs533801590	chr2:101165302-101165303	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs553711030	chr2:101165324-101165325	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs188453370	chr2:101165339-101165340	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs368094863	chr2:101165398-101165399	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs79054376	chr2:101165429-101165430	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs180861833	chr2:101165459-101165460	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs149738728	chr2:101165472-101165473	Enhancers 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:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:101161600-101165200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr2:101163800-101164600	Enhancers	Brain Hippocampus Middle	brain
3	chr2:101164400-101165000	Enhancers	Brain Cingulate Gyrus	brain
4	chr2:101164400-101165000	Enhancers	Brain Inferior Temporal Lobe	brain
5	chr2:101164400-101165400	Enhancers	Brain Angular Gyrus	brain
6	chr2:101164400-101165600	Enhancers	Brain Substantia Nigra	brain
7	chr2:101164600-101165200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
8	chr2:101164600-101165400	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr2:101164600-101165400	Enhancers	Brain Anterior Caudate	brain
10	chr2:101164600-101165400	Flanking Active TSS	Brain Hippocampus Middle	brain
11	chr2:101164800-101165800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr2:101165000-101165400	Enhancers	H9 Cell Line	embryonic stem cell
13	chr2:101165000-101165400	Flanking Active TSS	Brain Cingulate Gyrus	brain
14	chr2:101165000-101165400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
15	chr2:101165000-101165600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr2:101165000-101165600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr2:101165000-101165800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr2:101165200-101165400	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr2:101165200-101165600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr2:101165200-101165800	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr2:101165200-101166400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr2:101165400-101165600	Enhancers	Brain Hippocampus Middle	brain
23	chr2:101165400-101165600	Enhancers	Brain Inferior Temporal Lobe	brain
24	chr2:101165400-101166600	Weak transcription	Brain Anterior Caudate	brain
25	chr2:101165400-101166800	Enhancers	Brain Cingulate Gyrus	brain
26	chr2:101165600-101166000	Weak transcription	Brain Hippocampus Middle	brain
27	chr2:101165600-101166000	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr2:101165600-101166000	Weak transcription	Brain Substantia Nigra	brain
29	chr2:101166000-101166600	Enhancers	Brain Hippocampus Middle	brain
30	chr2:101166000-101166800	Enhancers	Brain Inferior Temporal Lobe	brain
31	chr2:101166000-101166800	Enhancers	Brain Substantia Nigra	brain
32	chr2:101166600-101166800	Enhancers	Brain Anterior Caudate	brain
33	chr2:101170400-101171200	Enhancers	Primary T helper naive cells from peripheral blood	blood
34	chr2:101170400-101171200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
35	chr2:101170600-101171200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
36	chr2:101170600-101171400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
37	chr2:101170800-101171200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
38	chr2:101170800-101171400	Enhancers	Primary T cells fromperipheralblood	blood
39	chr2:101170800-101172000	Enhancers	Primary T cells from cord blood	blood
40	chr2:101170800-101172000	Enhancers	Primary T killer memory cells from peripheral blood	blood
41	chr2:101170800-101173400	Enhancers	Primary T helper cells fromperipheralblood	blood
42	chr2:101171000-101171200	Enhancers	Primary T helper cells PMA-I stimulated	--
43	chr2:101171000-101171200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
44	chr2:101171000-101171200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr2:101171000-101171600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
46	chr2:101171000-101171600	Enhancers	Spleen	Spleen
47	chr2:101171000-101172000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
48	chr2:101171200-101171400	Bivalent Enhancer	Placenta	Placenta
49	chr2:101171200-101171600	Enhancers	Primary B cells from peripheral blood	blood
50	chr2:101171200-101171600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood

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