Variant report

Variant	rs7030040
Chromosome Location	chr9:108468269-108468270
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	chr9:108456694..108458530-chr9:108468137..108470116,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000095209	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs12345407	1.00[EUR][1000 genomes]
rs16924820	1.00[EUR][1000 genomes]
rs16924997	0.83[EUR][1000 genomes]
rs34006675	1.00[EUR][1000 genomes]
rs35232724	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs57288965	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs57544538	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs57694909	1.00[EUR][1000 genomes]
rs58554531	1.00[EUR][1000 genomes]
rs58943241	1.00[EUR][1000 genomes]
rs59314159	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59747314	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6477452	1.00[EUR][1000 genomes]
rs7022006	0.96[AFR][1000 genomes]
rs7047325	1.00[EUR][1000 genomes]
rs73516084	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73518117	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73518124	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73518141	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73518160	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73518170	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73518183	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73520071	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73520092	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73520094	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73522007	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73522022	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73522055	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73522056	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73522061	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73522067	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7866807	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7870562	1.00[EUR][1000 genomes]
rs7873482	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv893693	chr9:108427062-108683134	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv615116	chr9:108468129-108546438	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:108457800-108472800	Weak transcription	Spleen	Spleen
2	chr9:108457800-108476200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr9:108457800-108492200	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr9:108458000-108468400	Weak transcription	Stomach Smooth Muscle	stomach
5	chr9:108458000-108472400	Weak transcription	HSMM	muscle
6	chr9:108458000-108473000	Weak transcription	Left Ventricle	heart
7	chr9:108458000-108475200	Weak transcription	Fetal Thymus	thymus
8	chr9:108458000-108475600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr9:108458000-108475600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr9:108458000-108475600	Weak transcription	Thymus	Thymus
11	chr9:108458000-108476000	Weak transcription	Ovary	ovary
12	chr9:108458000-108479200	Weak transcription	Fetal Brain Male	brain
13	chr9:108458000-108497800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr9:108458200-108468400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr9:108458200-108468600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr9:108458200-108470600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr9:108458200-108476400	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr9:108458200-108478800	Weak transcription	Brain Hippocampus Middle	brain
19	chr9:108458200-108480800	Weak transcription	Brain Angular Gyrus	brain
20	chr9:108458200-108491400	Weak transcription	HSMMtube	muscle
21	chr9:108458200-108491600	Weak transcription	Brain Anterior Caudate	brain
22	chr9:108458200-108495400	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr9:108458200-108497000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr9:108458400-108470200	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr9:108458400-108470400	Weak transcription	Liver	Liver
26	chr9:108458600-108472600	Weak transcription	Duodenum Mucosa	Duodenum
27	chr9:108458800-108470600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr9:108459000-108476000	Weak transcription	Fetal Brain Female	brain
29	chr9:108459200-108468600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr9:108459200-108472400	Weak transcription	Dnd41	blood
31	chr9:108459200-108489400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr9:108459600-108470200	Weak transcription	Primary T helper cells PMA-I stimulated	--
33	chr9:108462600-108472600	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr9:108463200-108478400	Weak transcription	Hela-S3	cervix
35	chr9:108463200-108496800	Weak transcription	HepG2	liver
36	chr9:108463400-108487600	Weak transcription	Primary B cells from cord blood	blood
37	chr9:108463800-108470600	Weak transcription	Primary hematopoietic stem cells	blood
38	chr9:108463800-108472400	Weak transcription	K562	blood
39	chr9:108464000-108468400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr9:108464000-108468400	Weak transcription	Small Intestine	intestine
41	chr9:108464000-108474800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr9:108464200-108468400	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr9:108464200-108474800	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr9:108464400-108468600	Weak transcription	Fetal Intestine Large	intestine
45	chr9:108464400-108471800	Weak transcription	Psoas Muscle	Psoas
46	chr9:108464400-108476000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr9:108464800-108468400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr9:108465000-108496600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr9:108465200-108470600	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr9:108465600-108470400	Weak transcription	GM12878-XiMat	blood

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