Variant report

Variant	rs74056389
Chromosome Location	chr14:65180489-65180490
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SETDB1	chr14:65180098-65180911	U2OS	brain:	n/a	n/a
2	KAP1	chr14:65180224-65180698	K562	blood:	n/a	n/a
3	MYC	chr14:65180306-65180574	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:65168529..65178400-chr14:65179583..65195815,52	MCF-7	breast:

Variant related genes	Relation type
PLEKHG3	TF binding region
ENSG00000126822	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10130553	1.00[AMR][1000 genomes]
rs10133196	1.00[AMR][1000 genomes]
rs10135368	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10138311	1.00[ASN][1000 genomes]
rs12101185	1.00[AMR][1000 genomes]
rs17101973	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17102000	1.00[ASN][1000 genomes]
rs17102003	1.00[ASN][1000 genomes]
rs17102005	1.00[ASN][1000 genomes]
rs17102007	1.00[ASN][1000 genomes]
rs41381946	1.00[AMR][1000 genomes]
rs41456047	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4453374	1.00[ASN][1000 genomes]
rs55845128	1.00[AMR][1000 genomes]
rs58703532	1.00[AMR][1000 genomes]
rs59115111	1.00[ASN][1000 genomes]
rs60242081	1.00[AMR][1000 genomes]
rs73271697	1.00[ASN][1000 genomes]
rs73271700	1.00[AMR][1000 genomes]
rs74056006	1.00[AMR][1000 genomes]
rs74056027	1.00[AMR][1000 genomes]
rs74056031	1.00[AMR][1000 genomes]
rs74056080	1.00[AMR][1000 genomes]
rs74056321	1.00[AMR][1000 genomes]
rs74056335	1.00[AMR][1000 genomes]
rs74056355	1.00[AMR][1000 genomes]
rs74056368	1.00[AMR][1000 genomes]
rs74056388	1.00[ASN][1000 genomes]
rs74056391	1.00[ASN][1000 genomes]
rs74056392	1.00[AFR][1000 genomes]
rs74056393	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74056394	1.00[ASN][1000 genomes]
rs74056396	1.00[ASN][1000 genomes]
rs74056398	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74056399	1.00[AMR][1000 genomes]
rs74056402	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74056451	1.00[AMR][1000 genomes]
rs74056453	1.00[AMR][1000 genomes]
rs74056462	1.00[AMR][1000 genomes]
rs74058205	1.00[AMR][1000 genomes]
rs74058206	1.00[AMR][1000 genomes]
rs74058207	1.00[AMR][1000 genomes]
rs74058208	1.00[AMR][1000 genomes]
rs74058211	1.00[AMR][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	nsv1049097	chr14:65027753-65202018	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	esv1818582	chr14:65172898-65256685	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	11 gene(s)	inside rSNPs	diseases
3	nsv1035833	chr14:65176371-65246181	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65175200-65181000	Weak transcription	Hela-S3	cervix
2	chr14:65175200-65181800	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr14:65176000-65186400	Weak transcription	Osteobl	bone
4	chr14:65176200-65181400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
5	chr14:65176200-65182000	Weak transcription	Colonic Mucosa	Colon
6	chr14:65176400-65181200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr14:65176400-65181400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr14:65176400-65181800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr14:65176400-65182000	Weak transcription	Stomach Mucosa	stomach
10	chr14:65176800-65181400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr14:65176800-65181600	Weak transcription	Esophagus	oesophagus
12	chr14:65176800-65182000	Weak transcription	Gastric	stomach
13	chr14:65177000-65180800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr14:65177000-65181400	Weak transcription	Pancreas	Pancrea
15	chr14:65177000-65181800	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr14:65177000-65189200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr14:65177200-65181400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr14:65177200-65183400	Enhancers	Primary neutrophils fromperipheralblood	blood
19	chr14:65177400-65180800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr14:65177600-65180600	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr14:65177600-65181400	Weak transcription	Aorta	Aorta
22	chr14:65177800-65181200	Weak transcription	Placenta	Placenta
23	chr14:65178000-65180800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr14:65178000-65180800	Weak transcription	Brain Angular Gyrus	brain
25	chr14:65178000-65181400	Weak transcription	Left Ventricle	heart
26	chr14:65178000-65181400	Weak transcription	Lung	lung
27	chr14:65178000-65181400	Weak transcription	Right Atrium	heart
28	chr14:65178000-65181600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr14:65178000-65181800	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr14:65178000-65182000	Weak transcription	Ovary	ovary
31	chr14:65178000-65182000	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr14:65178200-65180800	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr14:65178200-65181000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr14:65178200-65181000	Weak transcription	NHEK	skin
35	chr14:65178200-65181200	Weak transcription	Primary T helper cells PMA-I stimulated	--
36	chr14:65178200-65181400	Weak transcription	Fetal Intestine Small	intestine
37	chr14:65178200-65181800	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr14:65178200-65182000	Weak transcription	Fetal Stomach	stomach
39	chr14:65178200-65182000	Weak transcription	Rectal Smooth Muscle	rectum
40	chr14:65178200-65182000	Weak transcription	Stomach Smooth Muscle	stomach
41	chr14:65178800-65180800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr14:65179000-65180800	Weak transcription	Brain Anterior Caudate	brain
43	chr14:65179000-65180800	Weak transcription	Brain Cingulate Gyrus	brain
44	chr14:65179000-65181200	Weak transcription	Liver	Liver
45	chr14:65179000-65181600	Weak transcription	Colon Smooth Muscle	Colon
46	chr14:65179000-65181800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr14:65179200-65181000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
48	chr14:65179200-65181400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr14:65179400-65181400	Weak transcription	Fetal Muscle Trunk	muscle
50	chr14:65179800-65180800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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