Variant report

Variant	rs552531110
Chromosome Location	chr16:74642691-74642692
allele	A/C
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	SIN3AK20	chr16:74642605-74643439	MCF-7	breast:	n/a	n/a
2	SIN3AK20	chr16:74642658-74643477	MCF-7	breast:	n/a	n/a
3	GATA3	chr16:74642604-74643443	SK-N-SH	brain:	n/a	chr16:74642953-74642962 chr16:74643003-74643011
4	TCF12	chr16:74642674-74643435	MCF-7	breast:	n/a	n/a
5	GATA1	chr16:74642681-74643308	K562	blood:	n/a	chr16:74642953-74642962 chr16:74643003-74643011
6	TCF12	chr16:74642690-74643355	SK-N-SH	brain:	n/a	n/a
7	GATA3	chr16:74642522-74643435	MCF-7	breast:	n/a	chr16:74642953-74642962 chr16:74643003-74643011
8	GATA3	chr16:74642604-74643355	MCF-7	breast:	n/a	chr16:74642953-74642962 chr16:74643003-74643011
9	JUND	chr16:74642652-74643227	MCF-7	breast:	n/a	chr16:74643037-74643047
10	CEBPD	chr16:74642677-74643281	K562	blood:	n/a	n/a
11	GATA3	chr16:74642571-74643295	SK-N-SH	brain:	n/a	chr16:74642953-74642962 chr16:74643003-74643011

No.	Distal block	Cell Line	Cell type
1	chr16:74328724..74332172-chr16:74639853..74642931,3	MCF-7	breast:
2	chr16:74641807..74643534-chr16:74646200..74648998,2	MCF-7	breast:
3	chr16:74638616..74642828-chr16:74644117..74647520,5	K562	blood:

Variant related genes	Relation type
GLG1	TF binding region
ENSG00000270945	Chromatin interaction
ENSG00000261404	Chromatin interaction
ENSG00000103035	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916687	chr16:74241238-74896721	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	102 gene(s)	inside rSNPs	diseases
2	nsv949374	chr16:74466960-75172358	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
3	nsv1060629	chr16:74483574-74660669	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv1062517	chr16:74483574-74710623	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	nsv833279	chr16:74490746-74663073	Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv1061095	chr16:74519718-75407020	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
7	nsv906905	chr16:74527618-74679244	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
8	nsv974837	chr16:74642496-74646718	Enhancers Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:74641200-74643000	Weak transcription	Small Intestine	intestine
2	chr16:74641200-74653800	Weak transcription	Spleen	Spleen
3	chr16:74641400-74642800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr16:74641400-74655800	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr16:74641400-74656000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr16:74641600-74643000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr16:74641600-74643000	Enhancers	Placenta	Placenta
8	chr16:74641600-74643200	Enhancers	Pancreas	Pancrea
9	chr16:74641600-74643400	Enhancers	Fetal Thymus	thymus
10	chr16:74641600-74643800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr16:74641600-74644200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr16:74641600-74644200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
13	chr16:74641600-74644600	Enhancers	Primary T cells fromperipheralblood	blood
14	chr16:74641600-74644600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr16:74641600-74644800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr16:74641600-74651000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr16:74641600-74656000	Weak transcription	Aorta	Aorta
18	chr16:74641600-74657000	Weak transcription	Gastric	stomach
19	chr16:74641600-74657800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr16:74641800-74642800	Enhancers	Primary T killer memory cells from peripheral blood	blood
21	chr16:74641800-74643600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr16:74641800-74643800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
23	chr16:74641800-74644000	Enhancers	Primary T helper cells fromperipheralblood	blood
24	chr16:74641800-74644600	Enhancers	Primary T helper naive cells from peripheral blood	blood
25	chr16:74641800-74644800	Enhancers	Primary T cells from cord blood	blood
26	chr16:74641800-74653600	Weak transcription	GM12878-XiMat	blood
27	chr16:74641800-74654600	Weak transcription	Primary B cells from peripheral blood	blood
28	chr16:74641800-74655200	Weak transcription	Primary B cells from cord blood	blood
29	chr16:74641800-74655400	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr16:74641800-74655400	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr16:74641800-74655800	Weak transcription	NHEK	skin
32	chr16:74641800-74656200	Weak transcription	HUVEC	blood vessel
33	chr16:74641800-74656600	Weak transcription	Brain Cingulate Gyrus	brain
34	chr16:74642000-74642800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
35	chr16:74642000-74642800	Enhancers	Primary T helper cells PMA-I stimulated	--
36	chr16:74642000-74642800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr16:74642000-74643000	Enhancers	Hela-S3	cervix
38	chr16:74642000-74643000	Enhancers	K562	blood
39	chr16:74642000-74643200	Enhancers	Primary hematopoietic stem cells	blood
40	chr16:74642000-74643600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr16:74642000-74643800	Enhancers	Dnd41	blood
42	chr16:74642000-74645600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr16:74642000-74647800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr16:74642000-74651000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr16:74642000-74652200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr16:74642000-74653200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr16:74642000-74654400	Weak transcription	Duodenum Mucosa	Duodenum
48	chr16:74642000-74655200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr16:74642000-74655200	Weak transcription	Fetal Brain Female	brain
50	chr16:74642000-74655800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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