Variant report

Variant	rs930830
Chromosome Location	chr4:15151976-15151977
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:15151866..15154106-chr4:15163665..15166328,2	K562	blood:
2	chr4:15150301..15152511-chr4:15236661..15238880,2	MCF-7	breast:
3	chr4:15147026..15148733-chr4:15150694..15153161,2	K562	blood:
4	chr4:15150136..15153304-chr4:15153460..15156952,4	K562	blood:
5	chr4:15003236..15005803-chr4:15150742..15153240,2	MCF-7	breast:
6	chr4:15151269..15153011-chr4:15154397..15156902,2	MCF-7	breast:
7	chr4:15005175..15008149-chr4:15150879..15152551,3	MCF-7	breast:
8	chr4:15073427..15076210-chr4:15151543..15153967,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000137449	Chromatin interaction
ENSG00000247624	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12646654	0.87[ASN][1000 genomes]
rs12647022	0.95[ASN][1000 genomes]
rs12647052	0.95[ASN][1000 genomes]
rs12651481	0.95[ASN][1000 genomes]
rs1455202	0.93[ASN][1000 genomes]
rs1455204	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs16891503	0.95[ASN][1000 genomes]
rs1813151	0.93[ASN][1000 genomes]
rs2604560	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs28530620	0.91[ASN][1000 genomes]
rs3899794	1.00[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs57804406	0.93[ASN][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	esv3448986	chr4:14928802-15805558	Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	nsv829868	chr4:14964559-15164706	Transcr. at gene 5' and 3' Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:15146800-15152000	Enhancers	Fetal Heart	heart
2	chr4:15147400-15152400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr4:15148400-15152000	Enhancers	Ovary	ovary
4	chr4:15148600-15152400	Enhancers	Left Ventricle	heart
5	chr4:15148600-15152400	Enhancers	Right Ventricle	heart
6	chr4:15148800-15152200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr4:15148800-15152200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr4:15148800-15152200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr4:15148800-15153000	Enhancers	HepG2	liver
10	chr4:15149000-15152400	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr4:15149000-15152800	Enhancers	Brain Angular Gyrus	brain
12	chr4:15149200-15152400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr4:15149200-15153000	Enhancers	Brain Inferior Temporal Lobe	brain
14	chr4:15149400-15152400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr4:15149800-15152000	Enhancers	H9 Cell Line	embryonic stem cell
16	chr4:15149800-15152000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr4:15149800-15152000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr4:15149800-15152000	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr4:15149800-15152200	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr4:15149800-15152200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr4:15149800-15152200	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr4:15149800-15152200	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr4:15149800-15152200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr4:15149800-15152400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr4:15149800-15152600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr4:15149800-15152600	Enhancers	Right Atrium	heart
27	chr4:15149800-15152800	Enhancers	NHDF-Ad	bronchial
28	chr4:15150000-15152000	Enhancers	H1 Cell Line	embryonic stem cell
29	chr4:15150000-15152200	Enhancers	NH-A	brain
30	chr4:15150000-15152400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr4:15150000-15152400	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr4:15150000-15152400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr4:15150000-15152400	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr4:15150000-15152800	Enhancers	Brain Hippocampus Middle	brain
35	chr4:15150000-15152800	Enhancers	Duodenum Smooth Muscle	Duodenum
36	chr4:15150200-15152000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
37	chr4:15150200-15152200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr4:15150200-15152200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr4:15150200-15152400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr4:15150200-15152600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
41	chr4:15150200-15153000	Enhancers	Brain Substantia Nigra	brain
42	chr4:15150400-15152000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr4:15150400-15152000	Enhancers	Placenta Amnion	Placenta Amnion
44	chr4:15150400-15152200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr4:15150600-15152200	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr4:15150600-15152200	Enhancers	GM12878-XiMat	blood
47	chr4:15150600-15152400	Enhancers	HSMM	muscle
48	chr4:15150600-15152400	Enhancers	NHLF	lung
49	chr4:15150800-15152000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr4:15150800-15152000	Enhancers	Primary hematopoietic stem cells short term culture	blood

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