Variant report

Variant	rs151451
Chromosome Location	chr4:88006367-88006368
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:87927747..87929657-chr4:88004396..88007701,4	MCF-7	breast:
2	chr4:87925271..87927953-chr4:88006288..88008752,2	K562	blood:
3	chr4:88005383..88008853-chr4:88008930..88010972,3	K562	blood:
4	chr4:88004411..88007536-chr4:88008930..88011901,3	K562	blood:
5	chr4:87925271..87928107-chr4:88005926..88008504,3	K562	blood:

Variant related genes	Relation type
ENSG00000172493	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10018904	0.86[ASN][1000 genomes]
rs10023056	1.00[CEU][hapmap];0.95[CHB][hapmap];0.85[JPT][hapmap];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10029915	0.88[CEU][hapmap];0.95[CHB][hapmap];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10032244	0.82[CEU][hapmap]
rs10032710	1.00[CEU][hapmap];0.85[CHB][hapmap];0.84[JPT][hapmap];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10516788	0.94[CEU][hapmap]
rs13120301	0.82[CHB][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs151450	0.97[ASN][1000 genomes]
rs17012234	0.94[CEU][hapmap]
rs17012334	0.94[CEU][hapmap];0.92[EUR][1000 genomes]
rs17012512	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17605615	1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs17668131	0.86[ASN][1000 genomes]
rs17701999	0.94[CEU][hapmap]
rs17752307	0.89[CEU][hapmap]
rs1842685	1.00[CEU][hapmap];0.91[CHB][hapmap];0.84[JPT][hapmap];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2035403	0.99[ASN][1000 genomes]
rs2061498	0.92[EUR][1000 genomes]
rs2280952	0.86[ASN][1000 genomes]
rs2280954	0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs236676	0.94[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs236679	0.86[ASN][1000 genomes]
rs236681	0.82[CHB][hapmap];0.94[JPT][hapmap];0.85[ASN][1000 genomes]
rs340638	0.82[CEU][hapmap]
rs340643	0.82[CEU][hapmap]
rs3733377	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3736668	0.94[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3755980	0.94[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3755983	0.83[CEU][hapmap];0.94[CHB][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3755985	0.89[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3775209	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3775211	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3775226	0.83[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3775228	0.82[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs4693801	0.85[AFR][1000 genomes]
rs55982755	0.92[EUR][1000 genomes]
rs60695258	0.99[ASN][1000 genomes]
rs66477840	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6819155	0.94[CEU][hapmap]
rs6839933	0.81[CEU][hapmap]
rs6840258	0.88[CEU][hapmap]
rs6854749	0.89[CEU][hapmap]
rs72667747	0.92[AFR][1000 genomes]
rs72667750	0.92[AFR][1000 genomes]
rs72667757	0.92[AFR][1000 genomes]
rs7665282	0.89[CEU][hapmap]
rs767315	0.88[CEU][hapmap]
rs7682652	0.89[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	nsv999098	chr4:87899091-88016048	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Bivalent Enhancer 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	25 gene(s)	inside rSNPs	diseases
7	nsv537167	chr4:87899091-88016048	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
8	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
9	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:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:87990200-88008000	Weak transcription	Spleen	Spleen
2	chr4:87995200-88009400	Weak transcription	HepG2	liver
3	chr4:87995200-88010600	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr4:87995200-88029200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr4:87995400-88037800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr4:87995600-88011200	Weak transcription	Colonic Mucosa	Colon
7	chr4:87995800-88023800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr4:87996800-88023600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr4:87998800-88008000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr4:87999400-88007600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr4:87999400-88010600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr4:87999600-88006400	Enhancers	Rectal Smooth Muscle	rectum
13	chr4:87999600-88008200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr4:87999600-88010600	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr4:87999600-88011000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr4:87999800-88007000	Weak transcription	Duodenum Mucosa	Duodenum
17	chr4:88000000-88007000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr4:88000200-88010600	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr4:88000400-88007400	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr4:88000400-88020800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr4:88000600-88006600	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr4:88000600-88008400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr4:88000600-88013000	Weak transcription	A549	lung
24	chr4:88000800-88008400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr4:88001200-88007800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr4:88001200-88011400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr4:88001400-88013800	Weak transcription	HSMM	muscle
28	chr4:88001400-88025200	Weak transcription	Fetal Muscle Leg	muscle
29	chr4:88001600-88008200	Weak transcription	Fetal Kidney	kidney
30	chr4:88001600-88014000	Weak transcription	Small Intestine	intestine
31	chr4:88001800-88006800	Weak transcription	Fetal Intestine Small	intestine
32	chr4:88001800-88008200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr4:88001800-88010600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr4:88001800-88011800	Weak transcription	Fetal Stomach	stomach
35	chr4:88001800-88013200	Weak transcription	Stomach Mucosa	stomach
36	chr4:88001800-88013400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr4:88001800-88013800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr4:88001800-88025200	Weak transcription	Gastric	stomach
39	chr4:88002000-88007000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr4:88002000-88007200	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr4:88002000-88007400	Weak transcription	Pancreas	Pancrea
42	chr4:88002000-88007600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr4:88002000-88007600	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr4:88002000-88008200	Weak transcription	Esophagus	oesophagus
45	chr4:88002000-88008400	Weak transcription	Lung	lung
46	chr4:88002000-88009800	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr4:88002200-88008000	Weak transcription	Fetal Heart	heart
48	chr4:88003000-88008000	Weak transcription	NHLF	lung
49	chr4:88003400-88008400	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr4:88003400-88028600	Weak transcription	HSMMtube	muscle

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