Variant report

Variant	rs57937994
Chromosome Location	chr16:48397244-48397245
allele	C/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	POLR2A	chr16:48382423-48397803	K562	blood:	n/a	n/a
2	STAT3	chr16:48397011-48397333	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr16:48395008-48397782	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:48396253..48404408-chr16:48411826..48421166,27	K562	blood:
2	chr16:48387428..48394420-chr16:48394893..48400608,15	K562	blood:

Variant related genes	Relation type
SIAH1	TF binding region
ENSG00000196470	Chromatin interaction
ENSG00000102910	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs35374298	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57503116	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57833761	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60654623	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60747434	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60778835	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7192772	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73550078	1.00[AMR][1000 genomes]
rs73550084	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73550090	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73550093	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73550096	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73550097	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73550099	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73551446	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73551462	1.00[AMR][1000 genomes]
rs73551474	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73551482	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73552007	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73555664	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73562026	1.00[AMR][1000 genomes]
rs73562044	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73562047	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73562067	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73562076	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8048632	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8053521	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8056369	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8056984	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1061316	chr16:48264175-48594219	Weak transcription Strong transcription Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers 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	38 gene(s)	inside rSNPs	diseases
2	esv1821072	chr16:48268318-48504364	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv833219	chr16:48290595-48459301	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv1061708	chr16:48304343-48482594	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv542917	chr16:48304343-48482594	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	esv2758424	chr16:48329437-48479754	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
7	esv2758645	chr16:48329437-48479754	ZNF genes & repeats Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS 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	32 gene(s)	inside rSNPs	diseases
8	esv1837150	chr16:48375777-48470715	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
9	esv1802902	chr16:48394626-48419662	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	22 gene(s)	inside rSNPs	diseases
10	esv1836876	chr16:48395527-48459558	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
11	esv1842331	chr16:48395527-48459558	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:48370000-48398600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr16:48370400-48399200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr16:48370600-48399200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr16:48371000-48398200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr16:48383200-48399400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr16:48384000-48398800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr16:48385400-48399400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr16:48385600-48398800	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr16:48385600-48399400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr16:48386800-48398400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr16:48386800-48398400	Weak transcription	Small Intestine	intestine
12	chr16:48386800-48399000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr16:48386800-48399200	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr16:48387200-48398400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr16:48387400-48399000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr16:48387800-48398400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr16:48387800-48399400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr16:48388800-48397600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr16:48389400-48398400	Weak transcription	Ovary	ovary
20	chr16:48389400-48399000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr16:48389600-48398800	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr16:48390200-48398400	Weak transcription	Rectal Smooth Muscle	rectum
23	chr16:48390400-48398600	Weak transcription	Hela-S3	cervix
24	chr16:48390800-48397400	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr16:48390800-48399200	Weak transcription	HUVEC	blood vessel
26	chr16:48391600-48398800	Weak transcription	HSMMtube	muscle
27	chr16:48395400-48398400	Strong transcription	Dnd41	blood
28	chr16:48395800-48398200	Weak transcription	Fetal Kidney	kidney
29	chr16:48395800-48398400	Weak transcription	Fetal Brain Male	brain
30	chr16:48396000-48397400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr16:48396000-48398200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr16:48396000-48398200	Weak transcription	Fetal Brain Female	brain
33	chr16:48396000-48398400	Weak transcription	Brain Anterior Caudate	brain
34	chr16:48396000-48398600	Weak transcription	Colon Smooth Muscle	Colon
35	chr16:48396000-48399200	Weak transcription	NH-A	brain
36	chr16:48396000-48399400	Weak transcription	Primary B cells from cord blood	blood
37	chr16:48396000-48399400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr16:48396200-48398200	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr16:48396200-48398200	Weak transcription	Liver	Liver
40	chr16:48396200-48398200	Weak transcription	Fetal Heart	heart
41	chr16:48396200-48398400	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr16:48396200-48398400	Weak transcription	Gastric	stomach
43	chr16:48396200-48398600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr16:48396200-48399000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr16:48396200-48399000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr16:48396200-48399000	Weak transcription	Primary monocytes fromperipheralblood	blood
47	chr16:48396200-48399000	Weak transcription	Primary T helper cells fromperipheralblood	blood
48	chr16:48396200-48399200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr16:48396200-48399200	Weak transcription	Primary T cells fromperipheralblood	blood
50	chr16:48396200-48399200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links