Variant report

Variant	rs17103917
Chromosome Location	chr14:67555969-67555970
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:67551144..67554191-chr14:67555429..67558378,3	K562	blood:

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

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]
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]
rs17103847	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]
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:9 , 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	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
3	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
4	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
5	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
6	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
7	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
8	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
9	nsv1045518	chr14:67529049-67959582	Strong transcription Bivalent Enhancer Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:67511600-67556200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr14:67534800-67576400	Weak transcription	Pancreas	Pancrea
3	chr14:67545200-67569600	Weak transcription	Brain Hippocampus Middle	brain
4	chr14:67545200-67569800	Weak transcription	Colon Smooth Muscle	Colon
5	chr14:67545200-67570400	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr14:67545400-67572000	Weak transcription	Brain Substantia Nigra	brain
7	chr14:67545600-67558200	Weak transcription	Brain Cingulate Gyrus	brain
8	chr14:67548400-67590200	Weak transcription	Esophagus	oesophagus
9	chr14:67548800-67567400	Weak transcription	Left Ventricle	heart
10	chr14:67549200-67562000	Weak transcription	Primary hematopoietic stem cells	blood
11	chr14:67549200-67570800	Weak transcription	Psoas Muscle	Psoas
12	chr14:67549400-67561600	Weak transcription	Adipose Nuclei	Adipose
13	chr14:67549400-67569600	Weak transcription	Brain Anterior Caudate	brain
14	chr14:67549600-67568800	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr14:67549600-67569600	Weak transcription	Aorta	Aorta
16	chr14:67550200-67571200	Weak transcription	Dnd41	blood
17	chr14:67551000-67589000	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr14:67551200-67568800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr14:67552600-67558000	Weak transcription	Primary T cells from cord blood	blood
20	chr14:67553600-67569400	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr14:67553800-67569400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr14:67554200-67558400	Weak transcription	GM12878-XiMat	blood
23	chr14:67554400-67569400	Weak transcription	Fetal Brain Female	brain
24	chr14:67554600-67604200	Weak transcription	HMEC	breast
25	chr14:67554800-67557400	Weak transcription	Fetal Muscle Trunk	muscle
26	chr14:67554800-67567400	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr14:67555000-67560400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr14:67555000-67571000	Weak transcription	Duodenum Mucosa	Duodenum
29	chr14:67555400-67556400	Enhancers	Fetal Lung	lung
30	chr14:67555400-67557000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr14:67555400-67557200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr14:67555400-67561800	Strong transcription	Liver	Liver
33	chr14:67555400-67589600	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr14:67555400-67589600	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr14:67555800-67558000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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