Variant report

Variant	rs60695258
Chromosome Location	chr4:88022709-88022710
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:88014659..88016864-chr4:88019432..88023640,4	K562	blood:
2	chr4:87854450..87858445-chr4:88020078..88026757,11	MCF-7	breast:
3	chr4:88022117..88024925-chr4:88027985..88030710,2	K562	blood:
4	chr4:88021442..88026056-chr4:88026505..88030511,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000163633	Chromatin interaction
ENSG00000172493	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10018904	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10023056	0.86[ASN][1000 genomes]
rs10029915	0.86[ASN][1000 genomes]
rs10032710	0.84[ASN][1000 genomes]
rs13120301	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs151450	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs151451	0.99[ASN][1000 genomes]
rs17012512	0.86[ASN][1000 genomes]
rs17605615	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17668131	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1842685	0.85[ASN][1000 genomes]
rs2035403	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2280952	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2280954	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs236676	0.99[ASN][1000 genomes]
rs236679	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs236681	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3733377	0.99[ASN][1000 genomes]
rs3736668	0.91[ASN][1000 genomes]
rs3755980	0.90[ASN][1000 genomes]
rs3755983	0.91[ASN][1000 genomes]
rs3755985	0.99[ASN][1000 genomes]
rs3775209	0.90[ASN][1000 genomes]
rs3775211	0.91[ASN][1000 genomes]
rs3775226	0.90[ASN][1000 genomes]
rs3775228	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs66477840	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999176	chr4:87869996-88098136	Strong transcription Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv998335	chr4:87869996-88104414	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv1001017	chr4:87872160-88087003	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv537166	chr4:87872160-88087003	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv997750	chr4:87933945-88264127	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv879525	chr4:87964363-88033352	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:87995200-88029200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr4:87995400-88037800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr4:87995800-88023800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr4:87996800-88023600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr4:88001400-88025200	Weak transcription	Fetal Muscle Leg	muscle
6	chr4:88001800-88025200	Weak transcription	Gastric	stomach
7	chr4:88003400-88028600	Weak transcription	HSMMtube	muscle
8	chr4:88004400-88025200	Weak transcription	Fetal Muscle Trunk	muscle
9	chr4:88011800-88032800	Weak transcription	Colonic Mucosa	Colon
10	chr4:88014400-88024600	Weak transcription	HSMM	muscle
11	chr4:88014800-88024400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr4:88014800-88024600	Weak transcription	Stomach Mucosa	stomach
13	chr4:88014800-88024800	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr4:88015000-88024000	Weak transcription	NHLF	lung
15	chr4:88015200-88023200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr4:88015200-88024200	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr4:88015200-88024400	Strong transcription	GM12878-XiMat	blood
18	chr4:88015200-88024600	Weak transcription	Rectal Smooth Muscle	rectum
19	chr4:88015200-88024600	Weak transcription	A549	lung
20	chr4:88015200-88025200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr4:88015200-88025200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr4:88015200-88028800	Weak transcription	Aorta	Aorta
23	chr4:88015200-88028800	Weak transcription	Fetal Heart	heart
24	chr4:88015200-88029200	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr4:88015400-88022800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr4:88015400-88023800	Weak transcription	Osteobl	bone
27	chr4:88015400-88025200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr4:88015400-88025200	Weak transcription	Esophagus	oesophagus
29	chr4:88015400-88025200	Weak transcription	Left Ventricle	heart
30	chr4:88015400-88025200	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr4:88015600-88023800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr4:88015600-88024000	Weak transcription	HUVEC	blood vessel
33	chr4:88015600-88026800	Weak transcription	Fetal Lung	lung
34	chr4:88015800-88022800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr4:88015800-88023400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr4:88015800-88024800	Weak transcription	HMEC	breast
37	chr4:88015800-88035400	Weak transcription	Right Ventricle	heart
38	chr4:88016000-88024600	Weak transcription	Hela-S3	cervix
39	chr4:88016000-88026400	Weak transcription	Primary B cells from peripheral blood	blood
40	chr4:88016200-88024400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr4:88016400-88023200	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr4:88016600-88026800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr4:88017200-88023000	Weak transcription	Adipose Nuclei	Adipose
44	chr4:88017400-88023800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr4:88017600-88024000	Strong transcription	Primary B cells from cord blood	blood
46	chr4:88018000-88023800	Enhancers	iPS-15b Cell Line	embryonic stem cell
47	chr4:88018000-88026600	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr4:88018200-88025200	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr4:88018400-88023000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr4:88018600-88022800	Weak transcription	NHEK	skin

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