Variant report

Variant	rs6887511
Chromosome Location	chr5:36888617-36888618
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:36887613..36889354-chr5:36924858..36926395,2	MCF-7	breast:
2	chr5:36876398..36879013-chr5:36886021..36888865,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164190	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs16903412	0.83[YRI][hapmap]
rs56725398	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58089157	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58132646	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58498167	1.00[AMR][1000 genomes]
rs59761392	0.85[AFR][1000 genomes]
rs60290055	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60570427	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61005381	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61062002	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61130125	1.00[AMR][1000 genomes]
rs6863554	1.00[AMR][1000 genomes]
rs73089413	1.00[AMR][1000 genomes]
rs73089416	1.00[AMR][1000 genomes]
rs73091691	1.00[AMR][1000 genomes]
rs73093808	1.00[AMR][1000 genomes]
rs73093847	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73093898	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73095712	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73095713	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73095726	0.84[AFR][1000 genomes];1.00[AMR][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	nsv492319	chr5:36570707-37061019	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv525478	chr5:36804225-37349895	Strong transcription Transcr. at gene 5' and 3' Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
3	nsv532133	chr5:36834932-36906436	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
4	esv1793961	chr5:36866835-37361728	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
5	nsv530225	chr5:36886635-37331912	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers 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	28 gene(s)	inside rSNPs	diseases
6	nsv830264	chr5:36887002-36941494	Strong transcription Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:36879200-36889400	Enhancers	Primary T killer memory cells from peripheral blood	blood
2	chr5:36879600-36889400	Weak transcription	HSMMtube	muscle
3	chr5:36879800-36891400	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr5:36880000-36889000	Weak transcription	Brain Anterior Caudate	brain
5	chr5:36880000-36891200	Weak transcription	Fetal Brain Female	brain
6	chr5:36880000-36897400	Weak transcription	NHLF	lung
7	chr5:36880400-36897800	Weak transcription	HUVEC	blood vessel
8	chr5:36881000-36899800	Weak transcription	Brain Substantia Nigra	brain
9	chr5:36881000-36900600	Weak transcription	Osteobl	bone
10	chr5:36881200-36890600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr5:36881200-36892400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr5:36881200-36900400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr5:36881400-36897400	Weak transcription	NHDF-Ad	bronchial
14	chr5:36881800-36895400	Weak transcription	Fetal Kidney	kidney
15	chr5:36882400-36899800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr5:36882800-36891400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr5:36884000-36892000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr5:36884200-36889600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr5:36884600-36897200	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr5:36885000-36899200	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr5:36885800-36890800	Enhancers	Primary T helper naive cells from peripheral blood	blood
22	chr5:36885800-36890800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
23	chr5:36886000-36894800	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr5:36886200-36889600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
25	chr5:36886200-36889800	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr5:36886200-36891400	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr5:36886200-36891400	Weak transcription	Aorta	Aorta
28	chr5:36886200-36891400	Weak transcription	HSMM	muscle
29	chr5:36886200-36893200	Weak transcription	Placenta	Placenta
30	chr5:36886200-36893400	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr5:36886200-36893400	Weak transcription	Fetal Muscle Trunk	muscle
32	chr5:36886200-36893600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr5:36886200-36894800	Weak transcription	Primary neutrophils fromperipheralblood	blood
34	chr5:36886200-36895000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr5:36886200-36897600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr5:36886200-36899000	Weak transcription	Fetal Thymus	thymus
37	chr5:36886400-36889400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
38	chr5:36886400-36889600	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr5:36886400-36889600	Enhancers	Primary T cells from cord blood	blood
40	chr5:36886400-36890800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr5:36886400-36890800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
42	chr5:36886400-36890800	Weak transcription	Monocytes-CD14+_RO01746	blood
43	chr5:36886400-36893000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr5:36886400-36893400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr5:36886400-36893600	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr5:36886400-36893600	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr5:36886400-36894800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr5:36886400-36896600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr5:36886400-36897600	Weak transcription	A549	lung
50	chr5:36886400-36898200	Weak transcription	Rectal Mucosa Donor 31	rectum

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