Variant report

Variant	rs944462
Chromosome Location	chr14:64642018-64642019
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	chr14:64641444..64643506-chr14:64666913..64669186,2	K562	blood:

Variant related genes	Relation type
ENSG00000054654	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11158529	1.00[YRI][hapmap]
rs11624917	1.00[AFR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11628107	1.00[YRI][hapmap]
rs11629158	1.00[YRI][hapmap]
rs12432035	1.00[YRI][hapmap]
rs12435492	1.00[YRI][hapmap]
rs1268656	0.89[CEU][hapmap];0.90[EUR][1000 genomes]
rs17825431	1.00[CEU][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1959008	1.00[AFR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3901129	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:64567400-64647200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
2	chr14:64578200-64649000	Strong transcription	Primary T helper cells fromperipheralblood	blood
3	chr14:64578600-64649000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr14:64581800-64650400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr14:64583400-64649000	Strong transcription	Rectal Mucosa Donor 29	rectum
6	chr14:64586000-64649000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
7	chr14:64591000-64649000	Strong transcription	Liver	Liver
8	chr14:64594600-64653200	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr14:64596400-64653000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr14:64600600-64667400	Weak transcription	Stomach Mucosa	stomach
11	chr14:64606200-64647200	Strong transcription	Primary T helper cells PMA-I stimulated	--
12	chr14:64609800-64653000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr14:64610600-64651000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr14:64614800-64644400	Weak transcription	HSMM	muscle
15	chr14:64617600-64649000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr14:64617800-64649000	Strong transcription	Primary T cells fromperipheralblood	blood
17	chr14:64620000-64651200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr14:64620400-64653000	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr14:64624800-64645800	Strong transcription	Fetal Intestine Large	intestine
20	chr14:64625000-64649000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr14:64625000-64658000	Weak transcription	HUVEC	blood vessel
22	chr14:64627200-64660400	Weak transcription	Fetal Heart	heart
23	chr14:64627400-64646400	Weak transcription	Brain Anterior Caudate	brain
24	chr14:64628200-64649000	Strong transcription	Duodenum Mucosa	Duodenum
25	chr14:64628600-64648800	Strong transcription	Skeletal Muscle Female	skeletal muscle
26	chr14:64634600-64648800	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr14:64635600-64647000	Weak transcription	Primary hematopoietic stem cells	blood
28	chr14:64636000-64645000	Weak transcription	Small Intestine	intestine
29	chr14:64636400-64658400	Weak transcription	HMEC	breast
30	chr14:64636600-64650800	Weak transcription	Rectal Smooth Muscle	rectum
31	chr14:64636800-64662600	Weak transcription	Psoas Muscle	Psoas
32	chr14:64637200-64648400	Weak transcription	Fetal Brain Male	brain
33	chr14:64637400-64642200	Weak transcription	Fetal Kidney	kidney
34	chr14:64637400-64643800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr14:64637400-64645000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr14:64637400-64645200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr14:64637400-64647600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr14:64637400-64648600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr14:64637400-64656800	Weak transcription	Hela-S3	cervix
40	chr14:64637400-64663600	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr14:64637600-64643800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr14:64637600-64644200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr14:64637600-64655200	Weak transcription	Primary B cells from peripheral blood	blood
44	chr14:64638000-64642400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr14:64638000-64648800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr14:64638600-64645400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr14:64638600-64650800	Weak transcription	Right Ventricle	heart
48	chr14:64638800-64644000	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr14:64639000-64644000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr14:64639000-64655000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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