Variant report

Variant	rs553094294
Chromosome Location	chr16:71916862-71916863
allele	G/T
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	CTCF	chr16:71916860-71917010	BJ	skin:	n/a	n/a
2	PML	chr16:71916219-71916862	GM12878	blood:	n/a	n/a
3	EBF1	chr16:71916344-71917509	GM12878	blood:	n/a	n/a
4	WRNIP1	chr16:71916427-71917397	GM12878	blood:	n/a	n/a
5	CTCF	chr16:71916840-71916990	HA-sp	spinal cord:	n/a	n/a
6	TAF1	chr16:71916835-71918785	H1-neurons	neurons:	n/a	n/a
7	POLR2A	chr16:71916839-71918754	H1-neurons	neurons:	n/a	n/a
8	ZBTB7A	chr16:71916839-71918759	ECC-1	luminal epithelium:	n/a	chr16:71917750-71917759
9	RELA	chr16:71916349-71917527	GM18951	blood:	n/a	n/a
10	CTCF	chr16:71916860-71917010	HPF	lung:	n/a	n/a
11	CTCF	chr16:71916117-71918628	SK-N-SH	brain:	n/a	chr16:71917743-71917759 chr16:71917742-71917760
12	RFX5	chr16:71916860-71916876	HepG2	liver:	n/a	n/a
13	CEBPB	chr16:71916410-71916956	K562	blood:	n/a	n/a
14	REST	chr16:71916268-71918981	H1-neurons	neurons:	n/a	chr16:71917704-71917722 chr16:71917883-71917896 chr16:71918681-71918699 chr16:71918681-71918694 chr16:71917886-71917899 chr16:71918678-71918691 chr16:71917703-71917723
15	ATF2	chr16:71916219-71916867	GM12878	blood:	n/a	n/a
16	POLR2A	chr16:71916847-71917015	HepG2	liver:	n/a	n/a
17	PAX5	chr16:71916258-71916878	GM12878	blood:	n/a	chr16:71916323-71916332 chr16:71916525-71916544
18	RUNX3	chr16:71916313-71917171	GM12878	blood:	n/a	chr16:71916684-71916699
19	CUX1	chr16:71916318-71917464	GM12878	blood:	n/a	n/a
20	CTCF	chr16:71916290-71916918	IMR90	lung:	n/a	n/a
21	SMC3	chr16:71916289-71918777	SK-N-SH	brain:	n/a	n/a
22	POLR2A	chr16:71916397-71918588	GM12878	blood:	n/a	n/a
23	FOXM1	chr16:71916246-71917074	GM12878	blood:	n/a	n/a
24	TBL1XR1	chr16:71916317-71917778	GM12878	blood:	n/a	n/a
25	CTCF	chr16:71916184-71916944	A549	lung:	n/a	n/a
26	RFX5	chr16:71916306-71917120	Hela-S3	cervix:	n/a	n/a
27	MTA3	chr16:71916372-71917623	GM12878	blood:	n/a	n/a
28	CTCF	chr16:71916780-71916930	GM12873	blood:	n/a	n/a
29	TCF7L2	chr16:71916321-71916970	PANC-1	pancreas:	n/a	n/a
30	MAZ	chr16:71916312-71918705	GM12878	blood:	n/a	chr16:71918570-71918580 chr16:71918180-71918190 chr16:71917463-71917472 chr16:71918283-71918293
31	NFIC	chr16:71916284-71916907	GM12878	blood:	n/a	n/a
32	YY1	chr16:71916300-71916906	GM12878	blood:	n/a	n/a
33	RUNX3	chr16:71916259-71917134	GM12878	blood:	n/a	chr16:71916684-71916699
34	MXI1	chr16:71916364-71918710	GM12878	blood:	n/a	n/a
35	TBP	chr16:71916330-71917291	GM12878	blood:	n/a	n/a
36	NFIC	chr16:71916215-71917569	GM12878	blood:	n/a	n/a
37	MXI1	chr16:71916250-71919068	SK-N-SH	brain:	n/a	n/a
38	CTCF	chr16:71916820-71916970	SAEC	small airway:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:71879026..71881212-chr16:71914841..71917763,3	MCF-7	breast:
2	chr16:71912441..71914997-chr16:71916463..71919857,4	K562	blood:
3	chr16:71840534..71843948-chr16:71913805..71919381,8	MCF-7	breast:
4	chr16:71841119..71843508-chr16:71916755..71918312,2	K562	blood:
5	chr16:71913427..71915836-chr16:71916588..71919509,4	K562	blood:
6	chr16:71756102..71758936-chr16:71915033..71919382,3	MCF-7	breast:
7	chr16:71879784..71882644-chr16:71915890..71918554,5	K562	blood:
8	chr16:71840886..71843601-chr16:71915608..71919137,4	MCF-7	breast:
9	chr16:71916310..71918495-chr16:71961448..71964132,2	K562	blood:
10	chr16:71841119..71844188-chr16:71916755..71919955,4	K562	blood:
11	chr16:71916398..71918691-chr16:71923967..71926523,2	K562	blood:
12	chr16:71916483..71919796-chr16:71926616..71929598,5	K562	blood:
13	chr16:71879784..71882644-chr16:71915005..71918554,5	K562	blood:
14	chr16:71879516..71883331-chr16:71913609..71918904,8	MCF-7	breast:
15	chr16:71916766..71921844-chr16:71926616..71932994,12	K562	blood:

Variant related genes	Relation type
ENSG00000261765	TF binding region
ZNF821	TF binding region
IST1	TF binding region
ENSG00000040199	Chromatin interaction
ENSG00000261513	Chromatin interaction
ENSG00000263320	Chromatin interaction
ENSG00000102984	Chromatin interaction
ENSG00000166747	Chromatin interaction
ENSG00000224470	Chromatin interaction
ENSG00000182149	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3347477	chr16:71555148-71985177	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv948468	chr16:71727571-72651914	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
3	nsv1056439	chr16:71916498-72051144	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	esv3328027	chr16:71916676-71919424	Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71899000-71917000	Weak transcription	Pancreas	Pancrea
2	chr16:71900200-71917200	Weak transcription	Gastric	stomach
3	chr16:71911600-71917000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr16:71911600-71917000	Weak transcription	Lung	lung
5	chr16:71914200-71917000	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr16:71914600-71917000	Weak transcription	Ovary	ovary
7	chr16:71914800-71917000	Weak transcription	Left Ventricle	heart
8	chr16:71914800-71918800	Flanking Active TSS	Primary B cells from cord blood	blood
9	chr16:71915400-71917000	Active TSS	Fetal Brain Female	brain
10	chr16:71916200-71917400	Flanking Active TSS	Primary T cells from cord blood	blood
11	chr16:71916200-71919000	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr16:71916400-71917000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr16:71916400-71917000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr16:71916400-71917000	Flanking Active TSS	Fetal Intestine Small	intestine
15	chr16:71916400-71917000	Enhancers	Placenta Amnion	Placenta Amnion
16	chr16:71916400-71917000	Flanking Active TSS	Dnd41	blood
17	chr16:71916400-71917200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr16:71916400-71917200	Flanking Active TSS	Brain Germinal Matrix	brain
19	chr16:71916400-71917200	Flanking Active TSS	Fetal Lung	lung
20	chr16:71916400-71917200	Flanking Active TSS	A549	lung
21	chr16:71916400-71917400	Flanking Active TSS	Primary B cells from peripheral blood	blood
22	chr16:71916400-71917400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
23	chr16:71916400-71917400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
24	chr16:71916400-71917400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
25	chr16:71916400-71917400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
26	chr16:71916400-71917400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
27	chr16:71916400-71917400	Flanking Active TSS	HUVEC	blood vessel
28	chr16:71916400-71917400	Flanking Active TSS	K562	blood
29	chr16:71916400-71917400	Flanking Active TSS	NHEK	skin
30	chr16:71916400-71917600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
31	chr16:71916400-71917600	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
32	chr16:71916400-71917800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr16:71916400-71918800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr16:71916400-71919000	Flanking Active TSS	Primary hematopoietic stem cells	blood
35	chr16:71916600-71917000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
36	chr16:71916600-71917000	Flanking Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr16:71916600-71917000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr16:71916600-71917000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
39	chr16:71916600-71917000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
40	chr16:71916600-71917000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr16:71916600-71917000	Flanking Active TSS	Brain Anterior Caudate	brain
42	chr16:71916600-71917000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
43	chr16:71916600-71917000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
44	chr16:71916600-71917000	Flanking Bivalent TSS/Enh	Thymus	Thymus
45	chr16:71916600-71917000	Flanking Active TSS	HepG2	liver
46	chr16:71916600-71917200	Flanking Active TSS	H1 Cell Line	embryonic stem cell
47	chr16:71916600-71917200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr16:71916600-71917200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
49	chr16:71916600-71917200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
50	chr16:71916600-71917200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell

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