Variant report

Variant	rs4693795
Chromosome Location	chr4:87868056-87868057
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:87866421..87869517-chr4:87926538..87929020,3	MCF-7	breast:
2	chr4:87866229..87868544-chr4:87942788..87945492,2	K562	blood:
3	chr4:87864190..87869754-chr4:87925812..87929793,8	K562	blood:
4	chr4:87866938..87869563-chr4:87883119..87884691,2	K562	blood:
5	chr4:87867281..87868896-chr4:87929541..87932174,2	MCF-7	breast:
6	chr4:87866844..87868969-chr4:88158554..88161014,2	K562	blood:
7	chr4:87859835..87862279-chr4:87865985..87868737,2	MCF-7	breast:
8	chr4:87854383..87857849-chr4:87866968..87869833,6	K562	blood:
9	chr4:87853595..87871697-chr4:87924007..87941983,77	K562	blood:
10	chr4:87857968..87859669-chr4:87867267..87869680,2	MCF-7	breast:
11	chr4:87867208..87869675-chr4:87927269..87929156,3	MCF-7	breast:
12	chr4:87867715..87870000-chr4:87883212..87884800,2	K562	blood:
13	chr4:87866229..87868745-chr4:87943992..87946336,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000172493	Chromatin interaction
ENSG00000163633	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10015639	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs10050311	0.87[CEU][hapmap]
rs1010902	0.88[EUR][1000 genomes]
rs1010903	0.89[EUR][1000 genomes]
rs10516785	0.95[CHB][hapmap];0.83[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs10516786	1.00[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap];0.81[YRI][hapmap];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10516788	0.83[JPT][hapmap]
rs11097124	0.82[EUR][1000 genomes]
rs1447994	0.85[EUR][1000 genomes]
rs1471251	0.83[JPT][hapmap]
rs17012170	0.93[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17012200	1.00[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17012213	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17012216	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17012234	0.84[CHB][hapmap];0.83[JPT][hapmap];0.83[ASN][1000 genomes]
rs17694112	0.81[CEU][hapmap]
rs17701999	0.83[JPT][hapmap]
rs17751427	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17751557	0.93[CEU][hapmap];0.84[CHB][hapmap];0.96[EUR][1000 genomes]
rs17752307	0.85[CHB][hapmap];0.89[JPT][hapmap];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1985944	0.89[EUR][1000 genomes]
rs2053771	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2287147	0.81[CEU][hapmap]
rs4693153	0.96[EUR][1000 genomes]
rs4693154	0.94[CEU][hapmap];0.90[CHB][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4693801	0.83[ASN][1000 genomes]
rs55698195	0.87[EUR][1000 genomes]
rs55831707	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs55851914	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55879154	0.83[ASN][1000 genomes]
rs55913164	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56201068	0.87[EUR][1000 genomes]
rs56378441	0.82[ASN][1000 genomes]
rs56390363	0.82[ASN][1000 genomes]
rs56406125	0.82[ASN][1000 genomes]
rs61651372	0.96[EUR][1000 genomes]
rs6531941	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs6819155	0.83[JPT][hapmap]
rs6854749	0.80[CHB][hapmap];0.85[JPT][hapmap]
rs72667703	0.89[EUR][1000 genomes]
rs72667705	0.88[EUR][1000 genomes]
rs72667716	0.96[EUR][1000 genomes]
rs72667721	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72667724	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72667727	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72667735	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72667736	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72667737	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72667739	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72667741	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72667747	0.83[ASN][1000 genomes]
rs72667748	0.83[ASN][1000 genomes]
rs72667750	0.83[ASN][1000 genomes]
rs72667751	0.82[ASN][1000 genomes]
rs72667752	0.82[ASN][1000 genomes]
rs72667753	0.82[ASN][1000 genomes]
rs72667754	0.82[ASN][1000 genomes]
rs7665282	0.84[CHB][hapmap];0.84[JPT][hapmap];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs767315	0.84[CHB][hapmap];0.89[JPT][hapmap]
rs7682652	0.85[CHB][hapmap];0.85[JPT][hapmap];0.83[ASN][1000 genomes]
rs7695426	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv594787	chr4:87221827-87888667	Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1013308	chr4:87769694-87870168	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv508297	chr4:87778783-87868508	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
4	nsv1009937	chr4:87795314-88008345	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:87857600-87882000	Weak transcription	Spleen	Spleen
2	chr4:87857800-87880200	Weak transcription	HSMM	muscle
3	chr4:87858200-87869400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr4:87858600-87881000	Weak transcription	Stomach Smooth Muscle	stomach
5	chr4:87861000-87878000	Weak transcription	HMEC	breast
6	chr4:87861400-87877200	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr4:87861400-87880800	Weak transcription	Aorta	Aorta
8	chr4:87861600-87868400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr4:87861600-87868400	Weak transcription	Brain Cingulate Gyrus	brain
10	chr4:87861600-87869200	Weak transcription	Brain Hippocampus Middle	brain
11	chr4:87861600-87870400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr4:87861800-87868200	Weak transcription	Adipose Nuclei	Adipose
13	chr4:87861800-87871600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr4:87861800-87871600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr4:87861800-87878000	Weak transcription	Osteobl	bone
16	chr4:87861800-87880000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr4:87861800-87880600	Weak transcription	Fetal Kidney	kidney
18	chr4:87862400-87871200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr4:87863200-87868200	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr4:87863400-87869200	Enhancers	Dnd41	blood
21	chr4:87863400-87871600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr4:87863600-87871800	Weak transcription	NHDF-Ad	bronchial
23	chr4:87863800-87868200	Weak transcription	Primary T cells from cord blood	blood
24	chr4:87864000-87868200	Weak transcription	Brain Anterior Caudate	brain
25	chr4:87864000-87868400	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr4:87864000-87868400	Enhancers	Placenta	Placenta
27	chr4:87864000-87870000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr4:87864000-87871800	Weak transcription	NHEK	skin
29	chr4:87864000-87878000	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr4:87864400-87868200	Enhancers	GM12878-XiMat	blood
31	chr4:87864400-87868200	Weak transcription	HUVEC	blood vessel
32	chr4:87864400-87868400	Weak transcription	Fetal Intestine Small	intestine
33	chr4:87864400-87871800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr4:87864400-87871800	Weak transcription	Fetal Intestine Large	intestine
35	chr4:87864400-87874400	Weak transcription	Liver	Liver
36	chr4:87864400-87880600	Weak transcription	Gastric	stomach
37	chr4:87864400-87880800	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr4:87864600-87874400	Weak transcription	Hela-S3	cervix
39	chr4:87865000-87868600	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr4:87865400-87868400	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr4:87865400-87869400	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr4:87865400-87869600	Enhancers	Primary hematopoietic stem cells	blood
43	chr4:87865400-87870200	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr4:87865400-87870200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr4:87865600-87868400	Enhancers	Left Ventricle	heart
46	chr4:87865600-87869000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
47	chr4:87865800-87868200	Enhancers	iPS-20b Cell Line	embryonic stem cell
48	chr4:87865800-87868600	Enhancers	H1 Cell Line	embryonic stem cell
49	chr4:87865800-87869200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr4:87865800-87869800	Enhancers	Primary hematopoietic stem cells short term culture	blood

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