Variant report

Variant	rs17101525
Chromosome Location	chr14:64457224-64457225
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs11158524	0.82[MKK][hapmap];0.85[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17101447	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17101451	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17101516	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17101669	1.00[AMR][1000 genomes]
rs17101673	1.00[AMR][1000 genomes]
rs34625768	1.00[AMR][1000 genomes]
rs57051751	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57259697	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58382551	1.00[AMR][1000 genomes]
rs59237063	1.00[AMR][1000 genomes]
rs59585806	1.00[AMR][1000 genomes]
rs60378481	1.00[AMR][1000 genomes]
rs6573540	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6573546	1.00[AMR][1000 genomes]
rs7141086	1.00[AMR][1000 genomes]
rs7147564	1.00[AMR][1000 genomes]
rs7148856	1.00[AMR][1000 genomes]
rs7152768	1.00[AMR][1000 genomes]
rs7152843	1.00[AMR][1000 genomes]
rs7155113	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7155539	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7156636	1.00[AMR][1000 genomes]
rs7157465	1.00[AMR][1000 genomes]
rs7161183	1.00[AMR][1000 genomes]
rs8007874	1.00[AMR][1000 genomes]
rs8012830	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8017849	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8018044	1.00[AMR][1000 genomes]
rs8018232	1.00[AMR][1000 genomes]
rs8018843	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8022052	1.00[AMR][1000 genomes]
rs8022302	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915909	chr14:63620440-64560369	Active TSS Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv1038825	chr14:64109441-64491720	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	esv1793389	chr14:64346190-64457224	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv902019	chr14:64395569-64882380	Enhancers Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
5	nsv456326	chr14:64420413-64754361	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
6	nsv564905	chr14:64420413-64754361	Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
7	nsv902020	chr14:64434288-64506541	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:64395000-64491000	Weak transcription	Psoas Muscle	Psoas
2	chr14:64416800-64458600	Weak transcription	Gastric	stomach
3	chr14:64417000-64459200	Weak transcription	NHEK	skin
4	chr14:64417000-64466000	Weak transcription	Colon Smooth Muscle	Colon
5	chr14:64417200-64458600	Weak transcription	Esophagus	oesophagus
6	chr14:64417400-64466200	Weak transcription	Right Ventricle	heart
7	chr14:64417600-64459200	Weak transcription	Pancreas	Pancrea
8	chr14:64418000-64463000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr14:64418400-64458600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr14:64419000-64463000	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr14:64419200-64489000	Weak transcription	Small Intestine	intestine
12	chr14:64419400-64459000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr14:64419400-64459200	Weak transcription	HMEC	breast
14	chr14:64420000-64458000	Weak transcription	Colonic Mucosa	Colon
15	chr14:64420200-64459000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr14:64420600-64462600	Weak transcription	HUVEC	blood vessel
17	chr14:64421600-64466000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr14:64423800-64463000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr14:64428400-64459400	Weak transcription	Aorta	Aorta
20	chr14:64429600-64458000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr14:64431000-64458200	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr14:64431200-64463800	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr14:64431200-64464800	Weak transcription	Stomach Mucosa	stomach
24	chr14:64433400-64465800	Weak transcription	Fetal Heart	heart
25	chr14:64434800-64458600	Weak transcription	Lung	lung
26	chr14:64435200-64457600	Weak transcription	Adipose Nuclei	Adipose
27	chr14:64435200-64458200	Weak transcription	Fetal Muscle Trunk	muscle
28	chr14:64435200-64471800	Weak transcription	Hela-S3	cervix
29	chr14:64435400-64463600	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr14:64439200-64465600	Weak transcription	Rectal Smooth Muscle	rectum
31	chr14:64439600-64462800	Weak transcription	Fetal Brain Male	brain
32	chr14:64439800-64467800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr14:64440800-64466000	Weak transcription	Primary B cells from peripheral blood	blood
34	chr14:64440800-64480400	Strong transcription	Primary T cells fromperipheralblood	blood
35	chr14:64441600-64467600	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr14:64442400-64491000	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr14:64442800-64458400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr14:64443000-64457600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr14:64443200-64458400	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr14:64443600-64458200	Weak transcription	Primary B cells from cord blood	blood
41	chr14:64444800-64457600	Weak transcription	Primary T cells from cord blood	blood
42	chr14:64445000-64457600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr14:64445000-64457600	Weak transcription	Liver	Liver
44	chr14:64445000-64457600	Weak transcription	Fetal Kidney	kidney
45	chr14:64445200-64459600	Weak transcription	Ovary	ovary
46	chr14:64445800-64458000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr14:64445800-64463800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr14:64446000-64459200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr14:64449200-64458000	Weak transcription	GM12878-XiMat	blood
50	chr14:64449200-64458200	Weak transcription	Sigmoid Colon	Sigmoid Colon

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