Variant report

Variant	rs147361288
Chromosome Location	chr14:65194653-65194654
allele	A/G
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:7)
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	chr14:65194527-65194730	MCF-7	breast:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:65182060..65184778-chr14:65193626..65195204,2	MCF-7	breast:
2	chr14:65192290..65195649-chr14:65222693..65231374,9	MCF-7	breast:
3	chr14:65192632..65194965-chr14:65195428..65197963,2	MCF-7	breast:
4	chr14:65193061..65195371-chr14:65207484..65209223,2	MCF-7	breast:
5	chr14:65168529..65178400-chr14:65179583..65195815,52	MCF-7	breast:
6	chr14:65193907..65195958-chr14:65196523..65198377,4	MCF-7	breast:
7	chr14:65192502..65194918-chr14:65380878..65383744,2	MCF-7	breast:

No data

Variant related genes	Relation type
PLEKHG3	TF binding region
ENSG00000258289	Chromatin interaction
ENSG00000126822	Chromatin interaction
ENSG00000125954	Chromatin interaction
ENSG00000070182	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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:113 , 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	chr14:65183000-65196200	Genic enhancers	Fetal Intestine Small	intestine
4	chr14:65184000-65208800	Weak transcription	Fetal Brain Male	brain
5	chr14:65187000-65197400	Enhancers	Primary T cells from cord blood	blood
6	chr14:65187400-65195200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
7	chr14:65188800-65195400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr14:65189800-65207000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr14:65191400-65197800	Enhancers	Primary T killer memory cells from peripheral blood	blood
10	chr14:65191600-65195000	Weak transcription	Fetal Kidney	kidney
11	chr14:65191600-65196200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr14:65191600-65198000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr14:65192400-65197600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr14:65192400-65210400	Weak transcription	Osteobl	bone
15	chr14:65192600-65196000	Weak transcription	NHDF-Ad	bronchial
16	chr14:65193000-65197200	Genic enhancers	Fetal Muscle Trunk	muscle
17	chr14:65193200-65195000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr14:65193200-65195600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr14:65193200-65200800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr14:65193200-65212200	Weak transcription	Fetal Heart	heart
21	chr14:65193400-65194800	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr14:65193400-65195000	Strong transcription	Spleen	Spleen
23	chr14:65193400-65195200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr14:65193400-65196200	Weak transcription	NHLF	lung
25	chr14:65193400-65198200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr14:65193400-65212400	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr14:65193400-65212400	Weak transcription	HSMMtube	muscle
28	chr14:65193600-65195000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
29	chr14:65193600-65198400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr14:65193600-65203200	Strong transcription	Fetal Stomach	stomach
31	chr14:65193600-65209200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr14:65193600-65212800	Weak transcription	HUVEC	blood vessel
33	chr14:65193800-65194800	Genic enhancers	Pancreas	Pancrea
34	chr14:65193800-65195000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr14:65193800-65195000	Weak transcription	HepG2	liver
36	chr14:65193800-65196000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr14:65193800-65196800	Weak transcription	Fetal Thymus	thymus
38	chr14:65193800-65201200	Strong transcription	Fetal Muscle Leg	muscle
39	chr14:65193800-65212200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr14:65193800-65214400	Strong transcription	Primary monocytes fromperipheralblood	blood
41	chr14:65194000-65194800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr14:65194000-65195000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr14:65194000-65195000	Genic enhancers	NHEK	skin
44	chr14:65194000-65196600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr14:65194000-65197400	Weak transcription	Hela-S3	cervix
46	chr14:65194000-65198600	Weak transcription	Stomach Mucosa	stomach
47	chr14:65194000-65200600	Strong transcription	A549	lung
48	chr14:65194000-65201200	Strong transcription	H1 Cell Line	embryonic stem cell
49	chr14:65194000-65203000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
50	chr14:65194000-65203000	Strong transcription	Placenta	Placenta

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