Variant report

Variant	rs17102016
Chromosome Location	chr14:65196782-65196783
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:65196734-65196837	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:65193907..65195958-chr14:65196523..65198377,4	MCF-7	breast:
2	chr14:65195829..65198759-chr14:65228499..65232345,3	MCF-7	breast:
3	chr14:65195242..65196824-chr14:65201352..65202977,2	MCF-7	breast:
4	chr14:65196332..65199526-chr14:65204522..65207283,4	MCF-7	breast:
5	chr14:65192632..65194965-chr14:65195428..65197963,2	MCF-7	breast:
6	chr14:65171254..65174488-chr14:65196605..65199995,3	MCF-7	breast:

No data

Variant related genes	Relation type
PLEKHG3	TF binding region
ENSG00000070182	Chromatin interaction
ENSG00000126822	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs17102018	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17102019	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17102020	1.00[ASN][1000 genomes]
rs28685073	1.00[ASN][1000 genomes]
rs57913362	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs755972	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
4	esv1801406	chr14:65193725-65264416	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65181000-65197600	Enhancers	Primary T helper cells fromperipheralblood	blood
2	chr14:65181200-65197000	Enhancers	Primary T helper cells PMA-I stimulated	--
3	chr14:65184000-65208800	Weak transcription	Fetal Brain Male	brain
4	chr14:65187000-65197400	Enhancers	Primary T cells from cord blood	blood
5	chr14:65189800-65207000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr14:65191400-65197800	Enhancers	Primary T killer memory cells from peripheral blood	blood
7	chr14:65191600-65198000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr14:65192400-65197600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr14:65192400-65210400	Weak transcription	Osteobl	bone
10	chr14:65193000-65197200	Genic enhancers	Fetal Muscle Trunk	muscle
11	chr14:65193200-65200800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr14:65193200-65212200	Weak transcription	Fetal Heart	heart
13	chr14:65193400-65198200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr14:65193400-65212400	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr14:65193400-65212400	Weak transcription	HSMMtube	muscle
16	chr14:65193600-65198400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr14:65193600-65203200	Strong transcription	Fetal Stomach	stomach
18	chr14:65193600-65209200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr14:65193600-65212800	Weak transcription	HUVEC	blood vessel
20	chr14:65193800-65196800	Weak transcription	Fetal Thymus	thymus
21	chr14:65193800-65201200	Strong transcription	Fetal Muscle Leg	muscle
22	chr14:65193800-65212200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr14:65193800-65214400	Strong transcription	Primary monocytes fromperipheralblood	blood
24	chr14:65194000-65197400	Weak transcription	Hela-S3	cervix
25	chr14:65194000-65198600	Weak transcription	Stomach Mucosa	stomach
26	chr14:65194000-65200600	Strong transcription	A549	lung
27	chr14:65194000-65201200	Strong transcription	H1 Cell Line	embryonic stem cell
28	chr14:65194000-65203000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
29	chr14:65194000-65203000	Strong transcription	Placenta	Placenta
30	chr14:65194000-65209000	Weak transcription	Small Intestine	intestine
31	chr14:65194200-65197000	Genic enhancers	Brain Substantia Nigra	brain
32	chr14:65194200-65198600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr14:65194200-65200600	Strong transcription	Colon Smooth Muscle	Colon
34	chr14:65194200-65201000	Strong transcription	Ovary	ovary
35	chr14:65194200-65204800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
36	chr14:65194200-65216200	Strong transcription	Cortex derived primary cultured neurospheres	brain
37	chr14:65194400-65196800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr14:65194400-65197600	Genic enhancers	Brain Hippocampus Middle	brain
39	chr14:65194400-65199800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
40	chr14:65194400-65200400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr14:65194400-65200400	Strong transcription	Brain Germinal Matrix	brain
42	chr14:65194400-65200400	Strong transcription	Gastric	stomach
43	chr14:65194400-65200800	Strong transcription	HUES64 Cell Line	embryonic stem cell
44	chr14:65194400-65200800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr14:65194400-65200800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr14:65194400-65200800	Strong transcription	Duodenum Mucosa	Duodenum
47	chr14:65194400-65201000	Strong transcription	Monocytes-CD14+_RO01746	blood
48	chr14:65194400-65201200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr14:65194600-65197200	Genic enhancers	Skeletal Muscle Male	skeletal muscle
50	chr14:65194600-65197400	Genic enhancers	Adipose Nuclei	Adipose

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