Variant report

Variant	rs3805285
Chromosome Location	chr4:95457872-95457873
allele	C/T
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	chr4:95455791..95459041-chr4:95471671..95474537,3	K562	blood:
3	chr4:95371767..95374402-chr4:95456594..95458553,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000163110	Chromatin interaction
ENSG00000203436	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1032420	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12645971	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13110115	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13143502	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13146878	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17394213	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1972011	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2452008	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2452010	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2452569	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2452570	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2452571	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2452572	0.89[ASN][1000 genomes]
rs2452574	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2452575	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2452576	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2452577	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2452580	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2452582	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2452584	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2452585	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2452586	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2452589	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2510768	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2510769	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2510772	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2510774	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2510775	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2510776	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2510777	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2510779	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2510780	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2510781	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3792666	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4699505	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][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:87 , 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	chr4:95452600-95458000	Enhancers	HUVEC	blood vessel
8	chr4:95453800-95459400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr4:95453800-95459600	Weak transcription	NHDF-Ad	bronchial
10	chr4:95453800-95460400	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr4:95453800-95465400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr4:95454200-95458400	Enhancers	Fetal Intestine Large	intestine
13	chr4:95454400-95458200	Enhancers	Fetal Intestine Small	intestine
14	chr4:95454400-95458400	Enhancers	Placenta Amnion	Placenta Amnion
15	chr4:95454400-95459000	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr4:95454600-95458400	Enhancers	Liver	Liver
17	chr4:95454600-95458400	Enhancers	Rectal Smooth Muscle	rectum
18	chr4:95454600-95460200	Enhancers	Colon Smooth Muscle	Colon
19	chr4:95454600-95462600	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr4:95454800-95458200	Enhancers	Placenta	Placenta
21	chr4:95455000-95458000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr4:95455000-95459000	Enhancers	Adipose Nuclei	Adipose
23	chr4:95455400-95458800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr4:95455600-95460000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr4:95455800-95458000	Enhancers	Brain Hippocampus Middle	brain
26	chr4:95455800-95458000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr4:95455800-95460200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr4:95456000-95458000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr4:95456000-95459600	Enhancers	H1 Cell Line	embryonic stem cell
30	chr4:95456200-95458000	Enhancers	Small Intestine	intestine
31	chr4:95456200-95458200	Enhancers	Stomach Smooth Muscle	stomach
32	chr4:95456200-95463200	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr4:95456400-95459600	Enhancers	A549	lung
34	chr4:95456400-95460600	Weak transcription	NHEK	skin
35	chr4:95456400-95462800	Enhancers	HSMMtube	muscle
36	chr4:95456600-95458000	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr4:95456600-95458400	Enhancers	Skeletal Muscle Female	skeletal muscle
38	chr4:95456600-95459800	Enhancers	Duodenum Smooth Muscle	Duodenum
39	chr4:95456600-95460200	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr4:95456600-95460800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr4:95456800-95458200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr4:95456800-95460800	Weak transcription	HMEC	breast
43	chr4:95456800-95465000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr4:95456800-95469800	Weak transcription	Ovary	ovary
45	chr4:95456800-95470200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr4:95457000-95459600	Enhancers	HSMM	muscle
47	chr4:95457000-95469800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr4:95457200-95458000	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr4:95457200-95458200	Enhancers	NHLF	lung
50	chr4:95457200-95458400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell

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