Variant report

Variant	esv3408222
Chromosome Location	chr3:196361347-196361727
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	ATF2	chr3:196361092-196361475	GM12878	blood:	n/a	n/a
2	ATF2	chr3:196361091-196361518	GM12878	blood:	n/a	n/a
3	BATF	chr3:196361154-196361477	GM12878	blood:	n/a	n/a
4	BCL11A	chr3:196361095-196361444	GM12878	blood:	n/a	chr3:196361290-196361299
5	BCL11A	chr3:196361132-196361484	GM12878	blood:	n/a	chr3:196361290-196361299
6	BCL3	chr3:196361107-196361480	GM12878	blood:	n/a	chr3:196361290-196361299
7	BCLAF1	chr3:196361123-196361444	GM12878	blood:	n/a	chr3:196361290-196361299
8	BHLHE40	chr3:196361142-196361521	GM12878	blood:	n/a	n/a
9	CHD2	chr3:196360562-196361500	GM12878	blood:	n/a	n/a
10	CUX1	chr3:196361196-196361406	GM12878	blood:	n/a	n/a
11	EBF1	chr3:196360752-196361476	GM12878	blood:	n/a	n/a
12	EBF1	chr3:196361072-196361457	GM12878	blood:	n/a	n/a
13	EBF1	chr3:196361090-196361515	GM12878	blood:	n/a	n/a
14	EGR1	chr3:196361038-196361369	GM12878	blood:	n/a	chr3:196361220-196361234 chr3:196361141-196361151 chr3:196361225-196361232 chr3:196361139-196361153 chr3:196361141-196361150 chr3:196361140-196361153 chr3:196361139-196361154 chr3:196361140-196361153 chr3:196361140-196361153
15	ELF1	chr3:196360425-196361536	GM12878	blood:	n/a	chr3:196360981-196360994
16	EP300	chr3:196360431-196361529	GM12878	blood:	n/a	n/a
17	EP300	chr3:196361151-196361486	GM12878	blood:	n/a	n/a
18	EP300	chr3:196361131-196361543	GM12878	blood:	n/a	n/a
19	EP300	chr3:196361037-196361448	GM12878	blood:	n/a	n/a
20	FOXM1	chr3:196361027-196361538	GM12878	blood:	n/a	n/a
21	IKZF1	chr3:196361180-196361479	GM12878	blood:	n/a	n/a
22	IRF4	chr3:196361060-196361505	GM12878	blood:	n/a	n/a
23	IRF4	chr3:196360975-196361486	GM12878	blood:	n/a	n/a
24	MAX	chr3:196361164-196361525	K562	blood:	n/a	chr3:196361330-196361339
25	MAX	chr3:196360563-196361457	NB4	blood:	n/a	chr3:196361330-196361339 chr3:196360809-196360816
26	MAX	chr3:196360776-196361502	GM12878	blood:	n/a	chr3:196361330-196361339 chr3:196360809-196360816
27	MAZ	chr3:196361117-196361537	GM12878	blood:	n/a	chr3:196361330-196361339
28	MEF2A	chr3:196361081-196361446	GM12878	blood:	n/a	n/a
29	MTA3	chr3:196360795-196361502	GM12878	blood:	n/a	n/a
30	MTA3	chr3:196360242-196361605	GM12878	blood:	n/a	n/a
31	MXI1	chr3:196361162-196361428	GM12878	blood:	n/a	n/a
32	MYC	chr3:196360680-196361369	K562	blood:	n/a	chr3:196361330-196361339 chr3:196360809-196360816
33	MYC	chr3:196360378-196361481	NB4	blood:	n/a	chr3:196361330-196361339 chr3:196360809-196360816
34	NFATC1	chr3:196361111-196361511	GM12878	blood:	n/a	n/a
35	NFIC	chr3:196360977-196361644	GM12878	blood:	n/a	n/a
36	NFIC	chr3:196361030-196361478	GM12878	blood:	n/a	n/a
37	PAX5	chr3:196361113-196361473	GM12878	blood:	n/a	n/a
38	PAX5	chr3:196360951-196361519	GM12878	blood:	n/a	chr3:196360985-196360994
39	PML	chr3:196361026-196361610	GM12878	blood:	n/a	n/a
40	POLR2A	chr3:196360426-196361475	GM19193	blood:	n/a	n/a
41	POLR2A	chr3:196358547-196361460	GM12892	blood:	n/a	n/a
42	POLR2A	chr3:196358282-196361457	GM12891	blood:	n/a	n/a
43	POLR2A	chr3:196360291-196362194	HL-60	blood:	n/a	n/a
44	POLR2A	chr3:196358486-196362153	NB4	blood:	n/a	n/a
45	POLR2A	chr3:196360275-196361624	HL-60	blood:	n/a	n/a
46	POLR2A	chr3:196360374-196361484	GM12878	blood:	n/a	n/a
47	POLR2A	chr3:196361361-196361430	GM12878	blood:	n/a	n/a
48	POLR2A	chr3:196360255-196361494	GM12878	blood:	n/a	n/a
49	POU2F2	chr3:196361003-196361550	GM12878	blood:	n/a	chr3:196361312-196361324 chr3:196361133-196361145
50	POU2F2	chr3:196361122-196361484	GM12891	blood:	n/a	chr3:196361312-196361324 chr3:196361133-196361145

No.	Distal block	Cell Line	Cell type
1	chr3:196360616..196362488-chr3:196400415..196403548,3	K562	blood:
2	chr3:196359722..196361449-chr3:196369958..196371504,2	MCF-7	breast:
3	chr3:196356110..196358354-chr3:196361482..196363401,2	MCF-7	breast:
4	chr3:196312738..196315414-chr3:196359776..196362202,2	K562	blood:

Variant related genes	Relation type
NRROS	TF binding region
PIGX	TF binding region
LINC01063	TF binding region

Extended variants
information (count: 37 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:37 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs374592618	chr3:196361391-196361392	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs367653130	chr3:196361398-196361399	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs554533607	chr3:196361407-196361408	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs189335710	chr3:196361413-196361414	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs540920487	chr3:196361423-196361424	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs72499686	chr3:196361439-196361440	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs11278910	chr3:196361446-196361447	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs79057529	chr3:196361463-196361464	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs74608435	chr3:196361477-196361478	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs77642699	chr3:196361481-196361482	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs574392099	chr3:196361503-196361504	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs71617345	chr3:196361507-196361508	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs59572597	chr3:196361517-196361518	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs61637406	chr3:196361526-196361527	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs75931074	chr3:196361528-196361529	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs543169009	chr3:196361530-196361531	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs534581729	chr3:196361532-196361533	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs57787034	chr3:196361537-196361538	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs60802800	chr3:196361543-196361544	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs552193634	chr3:196361556-196361557	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs61313832	chr3:196361561-196361562	Weak transcription Enhancers Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
22	rs58544440	chr3:196361562-196361563	Weak transcription Enhancers Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
23	rs57531278	chr3:196361571-196361572	Weak transcription Enhancers Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
24	rs62944060	chr3:196361591-196361592	Weak transcription Enhancers Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
25	rs188134612	chr3:196361607-196361608	Enhancers Weak transcription Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
26	rs538361188	chr3:196361608-196361609	Enhancers Weak transcription Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
27	rs113592013	chr3:196361617-196361618	Enhancers Weak transcription Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
28	rs181294934	chr3:196361619-196361620	Enhancers Weak transcription Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
29	rs62979960	chr3:196361622-196361623	Enhancers Weak transcription Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
30	rs186459777	chr3:196361654-196361655	Enhancers Weak transcription Flanking Active TSS	TF binding region	3 gene(s)	Overlapped CNVs	n/a
31	rs557293171	chr3:196361683-196361684	Enhancers Weak transcription Flanking Active TSS	TF binding region	3 gene(s)	Overlapped CNVs	n/a
32	rs117126947	chr3:196361685-196361686	Enhancers Weak transcription Flanking Active TSS	TF binding region	3 gene(s)	Overlapped CNVs	n/a
33	rs78253831	chr3:196361695-196361696	Enhancers Weak transcription Flanking Active TSS	TF binding region	3 gene(s)	Overlapped CNVs	n/a
34	rs77453405	chr3:196361700-196361701	Enhancers Weak transcription Flanking Active TSS	TF binding region	3 gene(s)	Overlapped CNVs	n/a
35	rs35263115	chr3:196361706-196361707	Enhancers Weak transcription Flanking Active TSS	TF binding region	3 gene(s)	Overlapped CNVs	n/a
36	rs374325473	chr3:196361710-196361711	Enhancers Weak transcription Flanking Active TSS	TF binding region	3 gene(s)	Overlapped CNVs	n/a
37	rs75204537	chr3:196361723-196361724	Enhancers Weak transcription Flanking Active TSS	TF binding region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	21115979	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	16608533	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
Cancer	16751803	CNVD
abnormal development	18461090	CNVD
Autism	19653912	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Prostate cancer	18632612	CNVD
Cervical cancer	21062161	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Austim spectrum disorder	21302340	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	16397240	CNVD
Epilepsy	20736978	CNVD
Mental retardation	20736978	CNVD
speech impairment	20736978	CNVD
Intracranial aneurysm	16715129	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Mental retardation	17124404	CNVD
Congenital anomalies of the kidney and urinary tract	20299530	CNVD
Developmental delay	21147756	CNVD
Breast cancer	21509527	CNVD
Cancer	21129771	CNVD
Myelofibrosis	22110671	CNVD
Neurodevelopmental disorder	16760732	CNVD
Schizophrenia	22118685	CNVD
Schizophrenia	22958593	CNVD
Schizophrenia	21285140	CNVD
Schizophrenia	20970697	CNVD
Mental retardation	19951919	CNVD
Autism	20970697	CNVD
Developmental delay	18471269	CNVD
Intellectual disability	22045946	CNVD
Breast cancer	21045282	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Ovarian cancer	20844748	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Uveal melanoma	20484589	CNVD
3q29 microdeletion syndrome	20500065	CNVD
Biliary cancer	20453639	CNVD
3q29 microdeletion syndrome	22283845	CNVD
3q29 microdeletion syndrome	21626679	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21364760	CNVD
Urothelial carcinoma	21177765	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Autism	20808228	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:196359600-196362200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr3:196359800-196361400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
3	chr3:196359800-196361400	Flanking Active TSS	Primary B cells from cord blood	blood
4	chr3:196359800-196361400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr3:196359800-196362200	Flanking Active TSS	Fetal Thymus	thymus
6	chr3:196359800-196362200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
7	chr3:196360000-196361400	Enhancers	Primary T killer memory cells from peripheral blood	blood
8	chr3:196360000-196362000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
9	chr3:196360000-196363000	Weak transcription	NHDF-Ad	bronchial
10	chr3:196360000-196366200	Weak transcription	Esophagus	oesophagus
11	chr3:196360200-196361400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr3:196360200-196361400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
13	chr3:196360200-196361400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr3:196360200-196361400	Enhancers	HepG2	liver
15	chr3:196360200-196361800	Enhancers	Fetal Muscle Trunk	muscle
16	chr3:196360200-196362000	Enhancers	Fetal Muscle Leg	muscle
17	chr3:196360200-196362000	Enhancers	Spleen	Spleen
18	chr3:196360200-196362200	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr3:196360200-196362400	Enhancers	Primary T cells fromperipheralblood	blood
20	chr3:196360200-196363000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr3:196360200-196366000	Weak transcription	Right Atrium	heart
22	chr3:196360200-196366200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr3:196360200-196366200	Weak transcription	Right Ventricle	heart
24	chr3:196360400-196361400	Flanking Active TSS	Thymus	Thymus
25	chr3:196360400-196361400	Flanking Active TSS	K562	blood
26	chr3:196360400-196362000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
27	chr3:196360400-196362400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr3:196360400-196365600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
29	chr3:196360400-196365600	Weak transcription	Brain Substantia Nigra	brain
30	chr3:196360400-196365800	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr3:196360600-196361400	Enhancers	Stomach Smooth Muscle	stomach
32	chr3:196360600-196361600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr3:196360600-196362200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr3:196360600-196365600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr3:196360600-196365800	Weak transcription	Brain Hippocampus Middle	brain
36	chr3:196360800-196361600	Enhancers	Primary T cells from cord blood	blood
37	chr3:196360800-196361800	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr3:196360800-196362200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
39	chr3:196360800-196362200	Flanking Active TSS	Dnd41	blood
40	chr3:196360800-196363200	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr3:196360800-196365600	Weak transcription	Brain Germinal Matrix	brain
42	chr3:196360800-196365600	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr3:196360800-196365800	Weak transcription	Brain Anterior Caudate	brain
44	chr3:196360800-196366000	Weak transcription	Small Intestine	intestine
45	chr3:196360800-196366200	Weak transcription	Pancreas	Pancrea
46	chr3:196361000-196362000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr3:196361000-196362000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr3:196361000-196362000	Weak transcription	Fetal Intestine Large	intestine
49	chr3:196361000-196362000	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr3:196361000-196362200	Enhancers	GM12878-XiMat	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links