Variant report

Variant	rs1497387
Chromosome Location	chr4:143337398-143337399
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	chr4:143333597..143335971-chr4:143337267..143338808,2	MCF-7	breast:
2	chr4:143334587..143337797-chr4:143392954..143395413,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000109452	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs13126113	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1906871	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2029409	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2029410	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4956441	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6847867	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv498005	chr4:142515689-143502988	Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv830100	chr4:143216951-143393305	Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:143329000-143338200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr4:143329000-143350000	Weak transcription	Primary hematopoietic stem cells	blood
3	chr4:143330000-143337400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr4:143330000-143338000	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr4:143330200-143344800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr4:143330400-143337400	Weak transcription	NHDF-Ad	bronchial
7	chr4:143331400-143337800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr4:143334200-143337400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr4:143334400-143337400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr4:143334800-143339200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr4:143335000-143337400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr4:143335200-143337400	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr4:143335200-143337600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr4:143335600-143337400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr4:143335800-143337800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr4:143335800-143338000	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr4:143336000-143338400	Weak transcription	Left Ventricle	heart
18	chr4:143336000-143341000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr4:143336200-143337400	Weak transcription	NHEK	skin
20	chr4:143336200-143337600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr4:143336200-143338000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr4:143336200-143340800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr4:143336400-143337400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr4:143336400-143337400	Weak transcription	HSMM	muscle
25	chr4:143336400-143337400	Weak transcription	HSMMtube	muscle
26	chr4:143336400-143337600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr4:143336400-143337800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr4:143336400-143338200	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr4:143336600-143338000	Enhancers	Primary T helper cells PMA-I stimulated	--
30	chr4:143337000-143337400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
31	chr4:143337000-143337400	Enhancers	Primary T helper naive cells from peripheral blood	blood
32	chr4:143337000-143337800	Enhancers	Primary T cells fromperipheralblood	blood
33	chr4:143337000-143338000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr4:143337000-143339000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr4:143337000-143339400	Enhancers	HMEC	breast
36	chr4:143337200-143337400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
37	chr4:143337200-143337400	Enhancers	Primary T helper cells fromperipheralblood	blood
38	chr4:143337200-143337600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
39	chr4:143337200-143337600	Enhancers	Primary T killer memory cells from peripheral blood	blood
40	chr4:143337200-143337800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
41	chr4:143337200-143338000	Enhancers	Primary T cells from cord blood	blood
42	chr4:143337200-143338000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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