Variant report

Variant	rs8018843
Chromosome Location	chr14:64462530-64462531
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11158524	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17101447	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17101451	1.00[AMR][1000 genomes]
rs17101516	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17101525	0.98[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	1.00[AMR][1000 genomes]
rs57259697	0.98[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	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	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7155539	0.83[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	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8017849	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8018044	1.00[AMR][1000 genomes]
rs8018232	1.00[AMR][1000 genomes]
rs8022052	1.00[AMR][1000 genomes]
rs8022302	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	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
4	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
5	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
6	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:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:64395000-64491000	Weak transcription	Psoas Muscle	Psoas
2	chr14:64417000-64466000	Weak transcription	Colon Smooth Muscle	Colon
3	chr14:64417400-64466200	Weak transcription	Right Ventricle	heart
4	chr14:64418000-64463000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr14:64419000-64463000	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr14:64419200-64489000	Weak transcription	Small Intestine	intestine
7	chr14:64420600-64462600	Weak transcription	HUVEC	blood vessel
8	chr14:64421600-64466000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr14:64423800-64463000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr14:64431200-64463800	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr14:64431200-64464800	Weak transcription	Stomach Mucosa	stomach
12	chr14:64433400-64465800	Weak transcription	Fetal Heart	heart
13	chr14:64435200-64471800	Weak transcription	Hela-S3	cervix
14	chr14:64435400-64463600	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr14:64439200-64465600	Weak transcription	Rectal Smooth Muscle	rectum
16	chr14:64439600-64462800	Weak transcription	Fetal Brain Male	brain
17	chr14:64439800-64467800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr14:64440800-64466000	Weak transcription	Primary B cells from peripheral blood	blood
19	chr14:64440800-64480400	Strong transcription	Primary T cells fromperipheralblood	blood
20	chr14:64441600-64467600	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr14:64442400-64491000	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr14:64445800-64463800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr14:64449200-64466200	Weak transcription	Spleen	Spleen
24	chr14:64450000-64465800	Weak transcription	Stomach Smooth Muscle	stomach
25	chr14:64452400-64480600	Strong transcription	Primary T helper cells fromperipheralblood	blood
26	chr14:64452600-64479200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr14:64456600-64462800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr14:64456600-64468200	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr14:64456800-64466000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr14:64457000-64470600	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr14:64457000-64474600	Strong transcription	Primary T helper cells PMA-I stimulated	--
32	chr14:64457000-64480000	Strong transcription	Dnd41	blood
33	chr14:64457000-64502000	Strong transcription	Placenta	Placenta
34	chr14:64457000-64519200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr14:64457200-64465600	Strong transcription	Thymus	Thymus
36	chr14:64457200-64470600	Strong transcription	HUES64 Cell Line	embryonic stem cell
37	chr14:64457200-64476000	Strong transcription	Fetal Brain Female	brain
38	chr14:64457200-64480200	Strong transcription	Primary neutrophils fromperipheralblood	blood
39	chr14:64457600-64467800	Strong transcription	Duodenum Mucosa	Duodenum
40	chr14:64458200-64463600	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr14:64458200-64464400	Weak transcription	Fetal Thymus	thymus
42	chr14:64458200-64468000	Strong transcription	Sigmoid Colon	Sigmoid Colon
43	chr14:64458600-64463000	Weak transcription	Primary B cells from cord blood	blood
44	chr14:64458800-64463600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr14:64458800-64463600	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr14:64458800-64490400	Weak transcription	Colonic Mucosa	Colon
47	chr14:64459000-64463000	Weak transcription	Liver	Liver
48	chr14:64459000-64463600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr14:64459000-64468400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr14:64459400-64462600	Weak transcription	Fetal Intestine Large	intestine

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