Variant report

Variant	rs17103839
Chromosome Location	chr14:67491123-67491124
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:67486765..67488657-chr14:67488979..67491560,2	K562	blood:
2	chr14:67485290..67488265-chr14:67490060..67491590,2	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs17103832	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17103837	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17103859	0.91[AFR][1000 genomes]
rs17103943	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17103973	1.00[CEU][hapmap]
rs17104115	1.00[ASW][hapmap]
rs17836680	1.00[MEX][hapmap]
rs1950283	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2207256	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2319499	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2874000	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2874001	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3902649	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4086004	0.91[AMR][1000 genomes]
rs41285472	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41285474	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41285532	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41314529	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4338730	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4477618	1.00[CEU][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4537958	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs45515505	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72715303	0.91[AFR][1000 genomes]
rs72715304	1.00[AFR][1000 genomes]
rs72715306	1.00[AFR][1000 genomes]
rs72715310	0.91[AFR][1000 genomes]
rs72715322	0.91[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3385263	chr14:66514718-67511481	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	nsv525460	chr14:66851185-67626594	Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	esv1834170	chr14:67103140-67527235	Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv2829998	chr14:67103579-67626594	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	esv1838724	chr14:67232573-67527235	Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	esv2763071	chr14:67284476-67597237	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv902058	chr14:67310195-67760538	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
8	nsv902059	chr14:67352226-67760538	ZNF genes & repeats Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
9	esv2751285	chr14:67364747-67886781	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
10	nsv902060	chr14:67417083-67760538	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
11	esv1841498	chr14:67434470-67634318	Strong transcription Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	nsv564960	chr14:67449344-67549803	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	nsv1038122	chr14:67487040-67528205	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs17103839	CSF3	trans	brain	seeQTL
rs17103839	C2CD4B	trans	brain	seeQTL

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:67416400-67491200	Weak transcription	Left Ventricle	heart
2	chr14:67418000-67491400	Weak transcription	Ovary	ovary
3	chr14:67424800-67499000	Weak transcription	Aorta	Aorta
4	chr14:67427600-67498800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr14:67438000-67491400	Weak transcription	Fetal Intestine Small	intestine
6	chr14:67449800-67491400	Weak transcription	Right Ventricle	heart
7	chr14:67463800-67492800	Weak transcription	Brain Substantia Nigra	brain
8	chr14:67465600-67491200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr14:67478200-67491200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr14:67483800-67491400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr14:67485200-67511200	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr14:67485400-67498800	Weak transcription	Fetal Intestine Large	intestine
13	chr14:67485800-67491200	Weak transcription	Gastric	stomach
14	chr14:67486800-67498800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr14:67486800-67499000	Weak transcription	Pancreas	Pancrea
16	chr14:67488400-67511200	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr14:67488800-67511200	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr14:67489200-67491200	Weak transcription	Primary hematopoietic stem cells	blood
19	chr14:67489600-67491200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr14:67489600-67498800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr14:67489800-67498800	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr14:67490200-67491600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr14:67490200-67491800	ZNF genes & repeats	GM12878-XiMat	blood
24	chr14:67490200-67494600	Strong transcription	Liver	Liver
25	chr14:67490600-67491200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr14:67490600-67491600	Strong transcription	Duodenum Smooth Muscle	Duodenum
27	chr14:67490800-67491200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr14:67490800-67491400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr14:67490800-67491400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr14:67491000-67491600	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr14:67491000-67491600	Strong transcription	Adipose Nuclei	Adipose
32	chr14:67491000-67492000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
33	chr14:67491000-67492600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr14:67491000-67501200	Weak transcription	Stomach Smooth Muscle	stomach

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