Variant report

Variant	rs2247805
Chromosome Location	chr9:78999016-78999017
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:78997883..78999693-chr9:79006777..79009304,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000135002	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1575554	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2247444	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2247914	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2490578	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2490580	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2490581	0.88[EUR][1000 genomes]
rs2490585	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2490587	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2501921	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2501924	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2501926	1.00[CEU][hapmap];0.85[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2501931	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2501936	1.00[CEU][hapmap];0.82[YRI][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs587766	1.00[CEU][hapmap]
rs7033581	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7036849	0.82[YRI][hapmap]
rs767364	1.00[CEU][hapmap];0.85[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869152	chr9:78742197-79583399	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv931033	chr9:78850330-79366454	Genic enhancers Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv893478	chr9:78933874-79101006	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv893479	chr9:78971253-79275226	Weak transcription Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:78986600-79008400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr9:78987600-79007800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr9:78988200-79002600	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr9:78988200-79003200	Weak transcription	HSMMtube	muscle
5	chr9:78988200-79008400	Weak transcription	Brain Substantia Nigra	brain
6	chr9:78988200-79008400	Weak transcription	Fetal Heart	heart
7	chr9:78988400-78999600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr9:78988400-79002200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr9:78988600-79001000	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr9:78988600-79001000	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr9:78988600-79002400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr9:78988600-79007800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr9:78988600-79008200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr9:78988800-78999800	Weak transcription	Brain Anterior Caudate	brain
15	chr9:78988800-79006000	Weak transcription	Brain Angular Gyrus	brain
16	chr9:78988800-79007200	Weak transcription	Brain Hippocampus Middle	brain
17	chr9:78988800-79008400	Weak transcription	Brain Cingulate Gyrus	brain
18	chr9:78989000-78999800	Weak transcription	GM12878-XiMat	blood
19	chr9:78989000-79000000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr9:78989000-79000200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr9:78989800-78999800	Weak transcription	Aorta	Aorta
22	chr9:78990000-79005400	Weak transcription	Small Intestine	intestine
23	chr9:78990200-79007800	Weak transcription	Fetal Brain Male	brain
24	chr9:78990200-79008400	Weak transcription	Right Ventricle	heart
25	chr9:78990400-78999200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr9:78990400-78999200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr9:78990400-78999200	Weak transcription	Stomach Smooth Muscle	stomach
28	chr9:78990400-78999600	Weak transcription	Left Ventricle	heart
29	chr9:78990400-78999600	Weak transcription	HSMM	muscle
30	chr9:78990400-78999800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr9:78990400-78999800	Weak transcription	Fetal Muscle Leg	muscle
32	chr9:78990400-79001000	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr9:78990400-79002600	Weak transcription	Esophagus	oesophagus
34	chr9:78990400-79008200	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr9:78990400-79008400	Weak transcription	Fetal Kidney	kidney
36	chr9:78990600-78999600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr9:78990600-78999800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr9:78990600-78999800	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr9:78990600-78999800	Weak transcription	HepG2	liver
40	chr9:78990600-79002400	Weak transcription	Fetal Intestine Small	intestine
41	chr9:78990600-79003000	Weak transcription	Colon Smooth Muscle	Colon
42	chr9:78990600-79005600	Weak transcription	K562	blood
43	chr9:78990600-79008400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
44	chr9:78990600-79008400	Weak transcription	Fetal Lung	lung
45	chr9:78990600-79008400	Weak transcription	Rectal Smooth Muscle	rectum
46	chr9:78990800-78999200	Weak transcription	Duodenum Mucosa	Duodenum
47	chr9:78990800-79008400	Weak transcription	NHLF	lung
48	chr9:78991000-79002400	Weak transcription	Fetal Stomach	stomach
49	chr9:78992200-79008600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr9:78994000-78999200	Weak transcription	Skeletal Muscle Female	skeletal muscle

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