Variant report

Variant	rs17103847
Chromosome Location	chr14:67525126-67525127
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1405856	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1405857	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17103724	1.00[AMR][1000 genomes]
rs17103786	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17103794	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17103813	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17103815	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17103816	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17103822	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17103826	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17103833	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17103876	1.00[AFR][1000 genomes]
rs17103891	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17103910	1.00[AFR][1000 genomes]
rs17103917	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17103933	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17103940	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17103943	1.00[AFR][1000 genomes]
rs17103954	1.00[AMR][1000 genomes]
rs17103993	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17104026	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17104066	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17104069	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17104097	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17104112	1.00[AMR][1000 genomes]
rs17104116	1.00[AMR][1000 genomes]
rs1950686	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2026652	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2026654	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72715340	0.83[AFR][1000 genomes]
rs72715344	1.00[AFR][1000 genomes]
rs72715348	1.00[AFR][1000 genomes]
rs72715349	1.00[AFR][1000 genomes]
rs72715354	1.00[AFR][1000 genomes]
rs72715355	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:67511600-67527200	Weak transcription	Brain Angular Gyrus	brain
2	chr14:67511600-67528800	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr14:67511600-67529000	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr14:67511600-67529400	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr14:67511600-67530200	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr14:67511600-67530400	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr14:67511600-67536000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr14:67511600-67538000	Weak transcription	Stomach Smooth Muscle	stomach
9	chr14:67511600-67544600	Weak transcription	Brain Hippocampus Middle	brain
10	chr14:67511600-67544800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr14:67511600-67556200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr14:67512800-67525800	Weak transcription	Brain Cingulate Gyrus	brain
13	chr14:67517800-67544400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr14:67518000-67527800	Weak transcription	Left Ventricle	heart
15	chr14:67518000-67528400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr14:67518000-67534200	Weak transcription	Fetal Intestine Small	intestine
17	chr14:67518000-67534400	Weak transcription	Ovary	ovary
18	chr14:67518000-67535400	Weak transcription	Duodenum Mucosa	Duodenum
19	chr14:67518000-67544800	Weak transcription	Fetal Stomach	stomach
20	chr14:67519000-67525200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr14:67519800-67526200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr14:67520000-67525200	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr14:67521800-67535800	Weak transcription	Fetal Kidney	kidney
24	chr14:67523200-67526400	Weak transcription	Liver	Liver
25	chr14:67523400-67528000	Weak transcription	GM12878-XiMat	blood
26	chr14:67523600-67526000	Weak transcription	Adipose Nuclei	Adipose
27	chr14:67524000-67528400	Weak transcription	Fetal Intestine Large	intestine
28	chr14:67524000-67544600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr14:67524200-67529000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr14:67524200-67533400	Weak transcription	Brain Anterior Caudate	brain

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