Variant report

Variant	rs4647542
Chromosome Location	chr9:97869554-97869555
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:97845277..97847054-chr9:97867436..97869989,2	K562	blood:
2	chr9:97867131..97870318-chr9:97872764..97875795,5	MCF-7	breast:
3	chr9:97683150..97685264-chr9:97867859..97870450,2	MCF-7	breast:
4	chr9:97765734..97769902-chr9:97866720..97870876,4	MCF-7	breast:
5	chr9:97772446..97776004-chr9:97866953..97870204,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000148120	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10512252	1.00[AMR][1000 genomes]
rs16905559	1.00[AMR][1000 genomes]
rs16911849	1.00[AMR][1000 genomes]
rs4647347	1.00[AMR][1000 genomes]
rs4647353	1.00[AMR][1000 genomes]
rs4647375	1.00[AMR][1000 genomes]
rs4647456	1.00[YRI][hapmap]
rs4647467	1.00[AMR][1000 genomes]
rs4647503	1.00[AMR][1000 genomes]
rs4647536	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs4647538	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56340483	1.00[AMR][1000 genomes]
rs73657015	1.00[AMR][1000 genomes]
rs73657016	1.00[AMR][1000 genomes]
rs7852735	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933919	chr9:97619512-97919344	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	293 gene(s)	inside rSNPs	diseases
2	nsv1038106	chr9:97793038-97881416	Weak transcription Strong transcription Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	274 gene(s)	inside rSNPs	diseases
3	nsv1038523	chr9:97797032-97923774	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	274 gene(s)	inside rSNPs	diseases
4	nsv540175	chr9:97797032-97923774	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	274 gene(s)	inside rSNPs	diseases
5	nsv831656	chr9:97831551-97989980	Weak transcription Strong transcription Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	274 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:97813000-97873000	Weak transcription	K562	blood
2	chr9:97820600-97875000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr9:97838000-97871200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr9:97844000-97898400	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr9:97846200-97880000	Weak transcription	Primary B cells from cord blood	blood
6	chr9:97847600-97878400	Weak transcription	Dnd41	blood
7	chr9:97855200-97876800	Weak transcription	GM12878-XiMat	blood
8	chr9:97855400-97884800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr9:97855600-97876400	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr9:97855600-97878600	Weak transcription	Stomach Mucosa	stomach
11	chr9:97856200-97872600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr9:97857800-97869600	Weak transcription	HUVEC	blood vessel
13	chr9:97858600-97877200	Strong transcription	Fetal Intestine Large	intestine
14	chr9:97858600-97878400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr9:97858800-97870800	Genic enhancers	Fetal Muscle Trunk	muscle
16	chr9:97860000-97875600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr9:97860400-97879000	Strong transcription	Liver	Liver
18	chr9:97860600-97870200	Strong transcription	Thymus	Thymus
19	chr9:97861200-97877200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr9:97861200-97889800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr9:97862200-97870200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr9:97862800-97874000	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr9:97863200-97875600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr9:97863400-97874800	Weak transcription	Primary hematopoietic stem cells	blood
25	chr9:97863600-97883600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr9:97864000-97877800	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr9:97865000-97870400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr9:97865000-97870400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr9:97865200-97876800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr9:97865200-97877200	Weak transcription	Small Intestine	intestine
31	chr9:97865600-97870800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr9:97865600-97883600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr9:97865800-97877600	Strong transcription	Fetal Intestine Small	intestine
34	chr9:97866000-97883400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr9:97866000-97889600	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr9:97866200-97889600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr9:97866400-97875200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr9:97866400-97886600	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr9:97866600-97869600	Enhancers	Placenta Amnion	Placenta Amnion
40	chr9:97866600-97869800	Weak transcription	Fetal Brain Male	brain
41	chr9:97866600-97873600	Genic enhancers	Skeletal Muscle Male	skeletal muscle
42	chr9:97867000-97869600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr9:97867000-97869600	Strong transcription	Duodenum Mucosa	Duodenum
44	chr9:97867000-97870800	Strong transcription	Right Ventricle	heart
45	chr9:97867000-97873000	Strong transcription	Fetal Stomach	stomach
46	chr9:97867000-97878800	Weak transcription	Right Atrium	heart
47	chr9:97867200-97869600	Strong transcription	Fetal Brain Female	brain
48	chr9:97867400-97869600	Strong transcription	Ovary	ovary
49	chr9:97867400-97870200	Strong transcription	Adipose Nuclei	Adipose
50	chr9:97867800-97869600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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