Variant report

Variant	rs9940974
Chromosome Location	chr16:81720968-81720969
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	GATA1	chr16:81719208-81720999	PBDE	blood:	n/a	chr16:81720174-81720184 chr16:81719830-81719840
2	POLR2A	chr16:81719670-81721044	PBDE	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:81719413..81721967-chr16:81724796..81726301,2	MCF-7	breast:
2	chr16:81713510..81715254-chr16:81720788..81723045,2	K562	blood:
3	chr16:81719217..81721536-chr16:81727180..81729899,2	MCF-7	breast:
4	chr16:81715171..81717714-chr16:81719737..81721979,2	MCF-7	breast:

Variant related genes	Relation type
CMIP	TF binding region
ENSG00000153815	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs13330642	0.92[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1058519	chr16:81177767-81735333	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
2	nsv948448	chr16:81198147-81906766	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers 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	37 gene(s)	inside rSNPs	diseases
3	nsv907011	chr16:81639190-81757252	Genic enhancers Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81682400-81722400	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr16:81683800-81721800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr16:81684400-81722200	Strong transcription	Primary monocytes fromperipheralblood	blood
4	chr16:81684400-81722200	Strong transcription	Primary neutrophils fromperipheralblood	blood
5	chr16:81686600-81721600	Weak transcription	NH-A	brain
6	chr16:81686600-81725000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr16:81688400-81736800	Weak transcription	NHDF-Ad	bronchial
8	chr16:81689800-81722200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
9	chr16:81689800-81722400	Strong transcription	Fetal Intestine Large	intestine
10	chr16:81691200-81721200	Strong transcription	Liver	Liver
11	chr16:81698800-81721400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr16:81699200-81725600	Weak transcription	Osteobl	bone
13	chr16:81699400-81726000	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr16:81701000-81725200	Weak transcription	Aorta	Aorta
15	chr16:81701200-81722200	Strong transcription	Fetal Intestine Small	intestine
16	chr16:81702200-81721800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr16:81702200-81722200	Strong transcription	HepG2	liver
18	chr16:81702600-81721600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr16:81703200-81722200	Strong transcription	Primary B cells from peripheral blood	blood
20	chr16:81704200-81724600	Weak transcription	Hela-S3	cervix
21	chr16:81706600-81725200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr16:81708000-81721200	Weak transcription	GM12878-XiMat	blood
23	chr16:81713200-81721000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr16:81713200-81721400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr16:81713200-81721400	Weak transcription	K562	blood
26	chr16:81713200-81721600	Weak transcription	HSMM	muscle
27	chr16:81713200-81721600	Weak transcription	HSMMtube	muscle
28	chr16:81713200-81722400	Strong transcription	A549	lung
29	chr16:81713200-81724800	Weak transcription	Stomach Mucosa	stomach
30	chr16:81713200-81725200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr16:81713200-81726000	Weak transcription	Fetal Brain Male	brain
32	chr16:81713200-81726200	Weak transcription	Small Intestine	intestine
33	chr16:81713200-81727200	Weak transcription	NHLF	lung
34	chr16:81713200-81740600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr16:81713200-81744400	Weak transcription	Fetal Kidney	kidney
36	chr16:81713400-81722000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr16:81713400-81725600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr16:81713400-81726600	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr16:81713800-81721400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr16:81713800-81725600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr16:81713800-81725800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr16:81714200-81721400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr16:81714200-81725600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr16:81714400-81721400	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr16:81714600-81725000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr16:81714600-81725400	Weak transcription	Rectal Smooth Muscle	rectum
47	chr16:81714800-81721200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr16:81714800-81722200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr16:81714800-81725200	Weak transcription	Left Ventricle	heart
50	chr16:81714800-81725400	Weak transcription	Brain Hippocampus Middle	brain

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