Variant report

Variant	rs3805282
Chromosome Location	chr4:95458317-95458318
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:95456523..95459012-chr4:95469903..95471763,2	MCF-7	breast:
2	chr4:95457924..95459634-chr4:95461855..95464045,2	K562	blood:
3	chr4:95455791..95459041-chr4:95471671..95474537,3	K562	blood:
4	chr4:95371767..95374402-chr4:95456594..95458553,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000203436	Chromatin interaction
ENSG00000163110	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10003483	1.00[CEU][hapmap]
rs10019452	0.86[JPT][hapmap]
rs10026467	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10516952	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11722955	0.86[JPT][hapmap];1.00[MEX][hapmap]
rs11725792	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11731783	0.86[JPT][hapmap];1.00[MEX][hapmap]
rs11735827	1.00[CEU][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.83[TSI][hapmap];0.86[EUR][1000 genomes]
rs17021775	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17021818	0.94[GIH][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap];0.80[EUR][1000 genomes]
rs17021930	1.00[MEX][hapmap]
rs17336470	0.86[JPT][hapmap];1.00[MEX][hapmap]
rs28579984	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28612590	0.80[EUR][1000 genomes]
rs28690414	0.80[EUR][1000 genomes]
rs28717041	0.80[EUR][1000 genomes]
rs3792662	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3792665	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3805265	0.88[GIH][hapmap];0.85[JPT][hapmap];0.83[TSI][hapmap];0.80[EUR][1000 genomes]
rs55858829	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6840774	0.86[JPT][hapmap]
rs6843496	1.00[CEU][hapmap]
rs9307143	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9307145	0.86[JPT][hapmap];0.80[EUR][1000 genomes]
rs9996560	1.00[CEU][hapmap]
rs9997947	0.86[JPT][hapmap]

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:86 , 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	chr4:95449800-95460400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr4:95450400-95465800	Weak transcription	Lung	lung
6	chr4:95450600-95459600	Weak transcription	Brain Angular Gyrus	brain
7	chr4:95453800-95459400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr4:95453800-95459600	Weak transcription	NHDF-Ad	bronchial
9	chr4:95453800-95460400	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr4:95453800-95465400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr4:95454200-95458400	Enhancers	Fetal Intestine Large	intestine
12	chr4:95454400-95458400	Enhancers	Placenta Amnion	Placenta Amnion
13	chr4:95454400-95459000	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr4:95454600-95458400	Enhancers	Liver	Liver
15	chr4:95454600-95458400	Enhancers	Rectal Smooth Muscle	rectum
16	chr4:95454600-95460200	Enhancers	Colon Smooth Muscle	Colon
17	chr4:95454600-95462600	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr4:95455000-95459000	Enhancers	Adipose Nuclei	Adipose
19	chr4:95455400-95458800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr4:95455600-95460000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr4:95455800-95460200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr4:95456000-95459600	Enhancers	H1 Cell Line	embryonic stem cell
23	chr4:95456200-95463200	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr4:95456400-95459600	Enhancers	A549	lung
25	chr4:95456400-95460600	Weak transcription	NHEK	skin
26	chr4:95456400-95462800	Enhancers	HSMMtube	muscle
27	chr4:95456600-95458400	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr4:95456600-95459800	Enhancers	Duodenum Smooth Muscle	Duodenum
29	chr4:95456600-95460200	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr4:95456600-95460800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr4:95456800-95460800	Weak transcription	HMEC	breast
32	chr4:95456800-95465000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr4:95456800-95469800	Weak transcription	Ovary	ovary
34	chr4:95456800-95470200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr4:95457000-95459600	Enhancers	HSMM	muscle
36	chr4:95457000-95469800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr4:95457200-95458400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
38	chr4:95457200-95458400	Enhancers	Muscle Satellite Cultured Cells	--
39	chr4:95457200-95458400	Enhancers	Fetal Kidney	kidney
40	chr4:95457200-95459600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr4:95457200-95459800	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr4:95457200-95460000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr4:95457400-95458400	Enhancers	GM12878-XiMat	blood
44	chr4:95457400-95459600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr4:95457400-95459600	Weak transcription	Aorta	Aorta
46	chr4:95457400-95459600	Weak transcription	Psoas Muscle	Psoas
47	chr4:95457400-95459800	Enhancers	Stomach Mucosa	stomach
48	chr4:95457400-95459800	Enhancers	Osteobl	bone
49	chr4:95457400-95461400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr4:95457400-95461600	Weak transcription	H9 Cell Line	embryonic stem cell

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