Variant report

Variant	rs2305688
Chromosome Location	chr16:70779144-70779145
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr16:70778811-70779156	NB4	blood:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:70728939..70732766-chr16:70778342..70782420,7	MCF-7	breast:
2	chr16:70715424..70721545-chr16:70778213..70783786,16	MCF-7	breast:
3	chr16:70724785..70727476-chr16:70778008..70779690,2	MCF-7	breast:
4	chr16:70726776..70729774-chr16:70778926..70781727,2	K562	blood:
5	chr16:70728125..70734937-chr16:70778355..70783574,11	MCF-7	breast:
6	chr16:70716857..70722605-chr16:70776377..70783146,15	MCF-7	breast:
7	chr16:70710951..70713595-chr16:70779027..70782774,3	MCF-7	breast:
8	chr16:70556680..70559302-chr16:70779045..70781738,2	MCF-7	breast:
9	chr16:70777980..70780022-chr16:70780577..70783431,2	K562	blood:
10	chr16:70713469..70715146-chr16:70778729..70780747,2	MCF-7	breast:

No data

Variant related genes	Relation type
VAC14	TF binding region
ENSG00000260156	TF binding region
ENSG00000132613	Chromatin interaction
ENSG00000103043	Chromatin interaction
ENSG00000260156	Chromatin interaction
ENSG00000189091	Chromatin interaction
ENSG00000103051	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs12449025	0.94[ASW][hapmap];0.97[CHD][hapmap];0.86[GIH][hapmap];0.80[LWK][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs3785422	0.85[CHB][hapmap]
rs6499335	0.82[MEX][hapmap]

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	nsv517391	chr16:70666410-70840490	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv457517	chr16:70666722-70840490	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv572945	chr16:70666722-70840490	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv906878	chr16:70677785-70782922	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS 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	19 gene(s)	inside rSNPs	diseases
5	nsv906879	chr16:70677785-70790831	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS 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	19 gene(s)	inside rSNPs	diseases
6	nsv906880	chr16:70677785-70796515	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
7	nsv1059226	chr16:70708698-70779144	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
8	nsv906889	chr16:70724001-70790831	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
9	nsv906890	chr16:70740707-70790831	Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
10	nsv1061191	chr16:70754975-71201367	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
11	nsv1059478	chr16:70773597-71237055	Flanking Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2305688	TPPP3	cis	parietal	SCAN
rs2305688	HP	cis	cerebellum	SCAN
rs2305688	DYNC1LI2	cis	parietal	SCAN

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70754400-70780000	Weak transcription	Hela-S3	cervix
2	chr16:70760000-70784200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr16:70762400-70779600	Weak transcription	Aorta	Aorta
4	chr16:70771200-70782000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr16:70771400-70783800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr16:70772400-70783000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr16:70772600-70779600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr16:70772600-70813400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr16:70773000-70779400	Weak transcription	Brain Angular Gyrus	brain
10	chr16:70773000-70779600	Weak transcription	Rectal Smooth Muscle	rectum
11	chr16:70773000-70805600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr16:70773000-70815800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr16:70773200-70779600	Weak transcription	Colon Smooth Muscle	Colon
14	chr16:70773200-70780000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr16:70773400-70816200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr16:70773800-70779600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr16:70774200-70779400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr16:70774200-70780600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr16:70774400-70779200	Strong transcription	Primary neutrophils fromperipheralblood	blood
20	chr16:70774600-70779400	Strong transcription	Dnd41	blood
21	chr16:70775200-70779600	Weak transcription	NHEK	skin
22	chr16:70775200-70780800	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr16:70775400-70779200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr16:70775400-70779600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr16:70775600-70779200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr16:70775600-70779600	Strong transcription	Sigmoid Colon	Sigmoid Colon
27	chr16:70775600-70779600	Weak transcription	NH-A	brain
28	chr16:70775600-70780000	Weak transcription	HUVEC	blood vessel
29	chr16:70775800-70779200	Weak transcription	HMEC	breast
30	chr16:70775800-70782600	Weak transcription	Fetal Kidney	kidney
31	chr16:70776000-70779800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr16:70776000-70780000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr16:70776000-70780000	Weak transcription	Right Atrium	heart
34	chr16:70776200-70779200	Weak transcription	Fetal Brain Male	brain
35	chr16:70776200-70780000	Strong transcription	Primary T cells from cord blood	blood
36	chr16:70776200-70780200	Strong transcription	Primary T cells fromperipheralblood	blood
37	chr16:70776400-70780000	Strong transcription	Fetal Stomach	stomach
38	chr16:70776600-70779200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr16:70776600-70779600	Strong transcription	Primary T helper cells PMA-I stimulated	--
40	chr16:70776600-70780000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr16:70776800-70779800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr16:70777000-70779200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr16:70777200-70779200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr16:70777400-70779400	Genic enhancers	Fetal Muscle Leg	muscle
45	chr16:70777400-70779800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr16:70777400-70780800	Strong transcription	H9 Cell Line	embryonic stem cell
47	chr16:70777400-70784400	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr16:70777600-70779400	Genic enhancers	Brain Dorsolateral Prefrontal Cortex	brain
49	chr16:70777600-70781200	Genic enhancers	Fetal Muscle Trunk	muscle
50	chr16:70777800-70779400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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