Variant report

Variant	rs7212886
Chromosome Location	chr17:20208921-20208922
allele	A/G
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	CEBPB	chr17:20208913-20209118	IMR90	lung:	n/a	n/a

Variant related genes	Relation type
SPECC1	TF binding region

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs28563081	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7214833	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7223481	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73981866	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73981871	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9325893	0.93[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9890419	1.00[AMR][1000 genomes]
rs9894809	0.93[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9910699	0.93[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9911147	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9913192	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv907868	chr17:19768924-20217122	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Active TSS 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	25 gene(s)	inside rSNPs	diseases
2	nsv1067100	chr17:20007480-20464520	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
3	nsv543260	chr17:20007480-20464520	Strong transcription Weak transcription Enhancers Active TSS Flanking 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	37 gene(s)	inside rSNPs	diseases
4	nsv428669	chr17:20071969-20245033	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv1064854	chr17:20086562-20225751	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	esv2761953	chr17:20086562-20225763	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv574581	chr17:20088492-20699545	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
8	nsv1065758	chr17:20141912-20464366	Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
9	nsv543262	chr17:20141912-20464366	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
10	nsv1057389	chr17:20158343-20256498	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv427993	chr17:20171398-20482061	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
12	nsv916440	chr17:20171468-20839266	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
13	nsv520772	chr17:20184501-20522444	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
14	nsv521025	chr17:20198024-20514921	Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:20136400-20209800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr17:20170400-20209600	Weak transcription	HMEC	breast
3	chr17:20185200-20209800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr17:20186000-20209400	Weak transcription	Spleen	Spleen
5	chr17:20186200-20209800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr17:20187800-20223800	Weak transcription	Pancreas	Pancrea
7	chr17:20188600-20209800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr17:20188600-20209800	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr17:20197800-20209800	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr17:20200000-20209600	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr17:20200800-20209200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr17:20200800-20209400	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr17:20201000-20220000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr17:20201200-20209400	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr17:20201400-20209800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr17:20201800-20209400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr17:20202400-20209200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr17:20203800-20209600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr17:20204000-20209800	Weak transcription	Fetal Intestine Small	intestine
20	chr17:20204200-20209800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr17:20204200-20209800	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr17:20204400-20209800	Weak transcription	Aorta	Aorta
23	chr17:20204400-20209800	Weak transcription	Fetal Intestine Large	intestine
24	chr17:20204400-20216800	Weak transcription	Gastric	stomach
25	chr17:20204600-20209800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr17:20204800-20209800	Weak transcription	HSMM	muscle
27	chr17:20204800-20209800	Weak transcription	HSMMtube	muscle
28	chr17:20204800-20212200	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr17:20205800-20210400	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr17:20206000-20209600	Weak transcription	Osteobl	bone
31	chr17:20206600-20209400	Weak transcription	Brain Hippocampus Middle	brain
32	chr17:20206800-20209400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr17:20206800-20209400	Weak transcription	Brain Cingulate Gyrus	brain
34	chr17:20206800-20209400	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr17:20206800-20209600	Weak transcription	Fetal Stomach	stomach
36	chr17:20206800-20209800	Weak transcription	Brain Angular Gyrus	brain
37	chr17:20206800-20209800	Weak transcription	Brain Anterior Caudate	brain
38	chr17:20206800-20210600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr17:20207800-20211000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr17:20207800-20211200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
41	chr17:20207800-20211400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr17:20208000-20211400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr17:20208000-20212000	ZNF genes & repeats	A549	lung
44	chr17:20208000-20212200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr17:20208200-20209800	Strong transcription	Ovary	ovary
46	chr17:20208200-20211400	Strong transcription	Hela-S3	cervix
47	chr17:20208400-20209400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr17:20208400-20209400	Strong transcription	Adipose Nuclei	Adipose
49	chr17:20208400-20209800	Weak transcription	Primary B cells from cord blood	blood
50	chr17:20208400-20209800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links