Variant report

Variant	rs9307143
Chromosome Location	chr4:95465866-95465867
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:95464708..95469426-chr4:95470140..95474023,5	K562	blood:
2	chr4:95372608..95374440-chr4:95464990..95467964,2	MCF-7	breast:
3	chr4:95458379..95460078-chr4:95465243..95467289,2	K562	blood:
4	chr4:95460565..95462692-chr4:95465018..95467575,2	K562	blood:
5	chr4:95372341..95373893-chr4:95463516..95466280,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000163110	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10026467	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10516952	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11725792	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11735827	0.91[EUR][1000 genomes]
rs17021775	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17021818	0.86[EUR][1000 genomes]
rs28579984	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28612590	0.86[EUR][1000 genomes]
rs28690414	0.86[EUR][1000 genomes]
rs28717041	0.86[EUR][1000 genomes]
rs3792662	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3792665	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3805265	0.86[EUR][1000 genomes]
rs3805282	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55858829	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9307145	0.86[EUR][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	nsv993495	chr4:94992315-95482578	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv594901	chr4:95254730-95493246	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv1003743	chr4:95255957-95469831	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:95422400-95482800	Weak transcription	Fetal Muscle Trunk	muscle
2	chr4:95442000-95469600	Weak transcription	Primary T cells from cord blood	blood
3	chr4:95449200-95470200	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr4:95456800-95469800	Weak transcription	Ovary	ovary
5	chr4:95456800-95470200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr4:95457000-95469800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr4:95457400-95469800	Weak transcription	Fetal Muscle Leg	muscle
8	chr4:95457400-95470000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr4:95457400-95485400	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr4:95457800-95466400	Weak transcription	Brain Substantia Nigra	brain
11	chr4:95458000-95469800	Weak transcription	Small Intestine	intestine
12	chr4:95458000-95480400	Weak transcription	Brain Hippocampus Middle	brain
13	chr4:95458200-95483000	Weak transcription	Duodenum Mucosa	Duodenum
14	chr4:95458200-95488800	Weak transcription	Stomach Smooth Muscle	stomach
15	chr4:95458400-95468600	Weak transcription	Liver	Liver
16	chr4:95458400-95469800	Weak transcription	Fetal Intestine Large	intestine
17	chr4:95459000-95473000	Weak transcription	Fetal Kidney	kidney
18	chr4:95459000-95480400	Weak transcription	Adipose Nuclei	Adipose
19	chr4:95459600-95471000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr4:95459800-95466400	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr4:95459800-95481200	Weak transcription	Aorta	Aorta
22	chr4:95460000-95466000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr4:95460200-95472400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr4:95460400-95469800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr4:95462200-95466400	Weak transcription	Rectal Smooth Muscle	rectum
26	chr4:95462200-95468400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr4:95462400-95466000	Weak transcription	K562	blood
28	chr4:95462600-95470200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr4:95463000-95466000	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr4:95463000-95468400	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr4:95463000-95469600	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr4:95463000-95469600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr4:95463000-95480400	Weak transcription	Right Ventricle	heart
34	chr4:95463000-95487800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr4:95463200-95470000	Weak transcription	Fetal Intestine Small	intestine
36	chr4:95463200-95481200	Weak transcription	Left Ventricle	heart
37	chr4:95464600-95466000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr4:95464800-95466000	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr4:95464800-95467600	Enhancers	Fetal Heart	heart
40	chr4:95465000-95467600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr4:95465200-95466000	Enhancers	Placenta	Placenta
42	chr4:95465200-95466000	Enhancers	A549	lung
43	chr4:95465200-95466000	Enhancers	NH-A	brain
44	chr4:95465200-95466200	Enhancers	Skeletal Muscle Female	skeletal muscle
45	chr4:95465200-95467000	Enhancers	Hela-S3	cervix
46	chr4:95465200-95467000	Enhancers	HepG2	liver
47	chr4:95465200-95467000	Enhancers	NHDF-Ad	bronchial
48	chr4:95465200-95467200	Enhancers	NHEK	skin
49	chr4:95465200-95467400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr4:95465200-95467400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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