Variant report

Variant	rs7665282
Chromosome Location	chr4:87900850-87900851
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:87894083..87901163-chr4:87926378..87930735,13	K562	blood:
2	chr4:87895920..87900923-chr4:87925411..87930708,9	MCF-7	breast:
3	chr4:87854810..87857706-chr4:87898102..87901903,3	MCF-7	breast:
4	chr4:87891928..87895544-chr4:87897508..87902479,6	K562	blood:

Variant related genes	Relation type
ENSG00000172493	Chromatin interaction
ENSG00000163633	Chromatin interaction

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10015639	0.84[EUR][1000 genomes]
rs10023056	0.86[CEU][hapmap]
rs10032244	0.90[CEU][hapmap]
rs10032710	0.90[CEU][hapmap]
rs10516785	0.89[CHB][hapmap];0.94[JPT][hapmap];0.96[ASN][1000 genomes]
rs10516786	0.89[CHB][hapmap];0.94[JPT][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10516788	1.00[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap];0.90[YRI][hapmap];0.80[ASN][1000 genomes]
rs1471251	0.90[CHB][hapmap];0.89[JPT][hapmap]
rs151451	0.89[CEU][hapmap]
rs17012170	0.80[CHB][hapmap];0.83[JPT][hapmap];0.85[ASN][1000 genomes]
rs17012200	0.89[CHB][hapmap];0.94[JPT][hapmap];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17012213	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17012216	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17012234	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17012334	0.86[CEU][hapmap]
rs17604480	0.80[ASN][1000 genomes]
rs17701999	1.00[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap];0.82[ASN][1000 genomes]
rs17752307	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1842685	0.90[CEU][hapmap]
rs236676	0.84[CEU][hapmap]
rs340633	0.85[CEU][hapmap]
rs340637	0.91[CEU][hapmap]
rs340638	0.90[CEU][hapmap]
rs340642	0.91[CEU][hapmap]
rs340643	0.90[CEU][hapmap]
rs340650	0.91[CEU][hapmap]
rs3733377	0.90[CEU][hapmap]
rs3736668	0.80[CEU][hapmap]
rs3755980	0.84[CEU][hapmap]
rs4693795	0.84[CHB][hapmap];0.84[JPT][hapmap];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4693801	0.88[ASN][1000 genomes]
rs55787557	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs55851914	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55879154	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs55913164	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56023922	0.84[ASN][1000 genomes]
rs56050898	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs56201818	0.82[ASN][1000 genomes]
rs56378441	0.84[AFR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56390363	0.87[AFR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56395939	0.80[ASN][1000 genomes]
rs56406125	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6531941	0.84[EUR][1000 genomes]
rs6819155	1.00[CEU][hapmap];0.90[CHB][hapmap];0.89[JPT][hapmap];0.90[YRI][hapmap]
rs6839933	0.89[CEU][hapmap]
rs6840258	1.00[CEU][hapmap];0.95[CHB][hapmap];0.84[JPT][hapmap];0.89[YRI][hapmap]
rs6854749	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.80[ASN][1000 genomes]
rs72667735	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72667736	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72667737	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72667739	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72667741	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72667747	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72667748	0.85[AFR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72667750	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72667751	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72667752	0.90[AFR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72667753	0.82[AFR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72667754	0.86[AFR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72667757	0.80[ASN][1000 genomes]
rs72667759	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72667765	0.80[ASN][1000 genomes]
rs767315	0.95[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.80[ASN][1000 genomes]
rs7682652	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.86[YRI][hapmap];0.92[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7695426	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:87872600-87926200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr4:87882600-87920200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr4:87882800-87912400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr4:87892200-87907000	Weak transcription	Brain Anterior Caudate	brain
5	chr4:87892400-87920600	Weak transcription	Stomach Smooth Muscle	stomach
6	chr4:87892800-87909400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr4:87894400-87911000	Weak transcription	Pancreas	Pancrea
8	chr4:87894600-87904200	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr4:87894600-87915600	Weak transcription	Lung	lung
10	chr4:87894600-87921000	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr4:87895200-87909400	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr4:87895400-87920000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr4:87896200-87902800	Weak transcription	Primary T cells from cord blood	blood
14	chr4:87896200-87916000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr4:87896200-87919200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr4:87896400-87902800	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr4:87896800-87918800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr4:87897200-87901000	Enhancers	Fetal Intestine Large	intestine
19	chr4:87897200-87902600	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr4:87897600-87915600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr4:87897800-87903000	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr4:87898000-87903000	Weak transcription	Thymus	Thymus
23	chr4:87898200-87915400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr4:87898600-87901600	Enhancers	Primary B cells from peripheral blood	blood
25	chr4:87898600-87902800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr4:87898800-87902800	Weak transcription	Brain Hippocampus Middle	brain
27	chr4:87899000-87901200	Enhancers	HepG2	liver
28	chr4:87899000-87902800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr4:87899000-87902800	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr4:87899000-87915400	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr4:87899000-87915400	Weak transcription	Left Ventricle	heart
32	chr4:87899000-87920600	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr4:87899000-87921200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr4:87899200-87902000	Weak transcription	Gastric	stomach
35	chr4:87899200-87902200	Weak transcription	Fetal Thymus	thymus
36	chr4:87899200-87902200	Weak transcription	Spleen	Spleen
37	chr4:87899200-87902400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr4:87899200-87902400	Weak transcription	Dnd41	blood
39	chr4:87899200-87902600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr4:87899200-87902600	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr4:87899200-87902800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr4:87899200-87902800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr4:87899200-87902800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr4:87899200-87903000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr4:87899200-87903000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr4:87899200-87903200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr4:87899200-87903400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr4:87899200-87905000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr4:87899200-87905400	Weak transcription	Colon Smooth Muscle	Colon
50	chr4:87899200-87911000	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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