Variant report

Variant	rs7042609
Chromosome Location	chr9:116231032-116231033
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:116228123..116231108-chr9:116235617..116238973,4	MCF-7	breast:
2	chr9:116218884..116220525-chr9:116229994..116232111,2	MCF-7	breast:
3	chr9:116224048..116227995-chr9:116229141..116233391,10	MCF-7	breast:
4	chr9:116171144..116173742-chr9:116230694..116232545,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000138835	Chromatin interaction
ENSG00000157653	Chromatin interaction
ENSG00000148229	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10981835	0.87[YRI][hapmap]
rs12346476	1.00[EUR][1000 genomes]
rs60969910	1.00[EUR][1000 genomes]
rs6478021	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7023224	1.00[EUR][1000 genomes]
rs7027261	1.00[EUR][1000 genomes]
rs7032245	1.00[EUR][1000 genomes]
rs7032414	1.00[EUR][1000 genomes]
rs7033489	1.00[EUR][1000 genomes]
rs7038258	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73538901	1.00[EUR][1000 genomes]
rs73544687	1.00[EUR][1000 genomes]
rs73544688	1.00[EUR][1000 genomes]
rs7851265	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7853612	1.00[EUR][1000 genomes]
rs7856713	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7864169	1.00[EUR][1000 genomes]
rs7865642	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7866866	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7867017	1.00[EUR][1000 genomes]
rs7870008	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];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	nsv530949	chr9:115821128-116487796	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv893747	chr9:116214058-116386438	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS 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	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:116219400-116240000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr9:116226600-116231200	Weak transcription	Brain Hippocampus Middle	brain
3	chr9:116226600-116241400	Weak transcription	Lung	lung
4	chr9:116226800-116231200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr9:116226800-116235200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr9:116226800-116241400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr9:116227000-116231400	Weak transcription	NHLF	lung
8	chr9:116227000-116232400	Weak transcription	Primary hematopoietic stem cells	blood
9	chr9:116227000-116233800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr9:116227400-116263800	Weak transcription	Colonic Mucosa	Colon
11	chr9:116228000-116236600	Weak transcription	Psoas Muscle	Psoas
12	chr9:116228200-116231400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr9:116228200-116231400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr9:116228200-116231400	Weak transcription	A549	lung
15	chr9:116228400-116233400	Weak transcription	Stomach Mucosa	stomach
16	chr9:116228400-116238200	Weak transcription	Fetal Intestine Small	intestine
17	chr9:116228400-116241400	Weak transcription	Fetal Thymus	thymus
18	chr9:116228400-116245000	Weak transcription	Fetal Intestine Large	intestine
19	chr9:116228600-116231400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr9:116228600-116233000	Enhancers	HepG2	liver
21	chr9:116228600-116236200	Weak transcription	Placenta	Placenta
22	chr9:116228600-116241400	Weak transcription	Duodenum Mucosa	Duodenum
23	chr9:116228800-116231400	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr9:116228800-116236000	Weak transcription	Rectal Smooth Muscle	rectum
25	chr9:116230200-116231800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr9:116230600-116232000	Enhancers	Fetal Heart	heart
27	chr9:116230800-116232400	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr9:116231000-116231200	Enhancers	Fetal Muscle Leg	muscle
29	chr9:116231000-116231400	Enhancers	Brain Cingulate Gyrus	brain
30	chr9:116231000-116231400	Active TSS	Fetal Muscle Trunk	muscle
31	chr9:116231000-116231600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr9:116231000-116231600	Enhancers	Aorta	Aorta
33	chr9:116231000-116231600	Enhancers	Brain Substantia Nigra	brain
34	chr9:116231000-116231600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr9:116231000-116231600	Enhancers	Fetal Stomach	stomach
36	chr9:116231000-116231600	Enhancers	Gastric	stomach
37	chr9:116231000-116231600	Enhancers	Left Ventricle	heart
38	chr9:116231000-116231600	Enhancers	Right Atrium	heart
39	chr9:116231000-116231600	Enhancers	Right Ventricle	heart
40	chr9:116231000-116231600	Enhancers	Stomach Smooth Muscle	stomach
41	chr9:116231000-116231600	Enhancers	Hela-S3	cervix
42	chr9:116231000-116231600	Enhancers	HSMM	muscle
43	chr9:116231000-116231800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr9:116231000-116231800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr9:116231000-116231800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr9:116231000-116231800	Enhancers	Brain Angular Gyrus	brain
47	chr9:116231000-116231800	Enhancers	Ovary	ovary
48	chr9:116231000-116231800	Enhancers	HSMMtube	muscle
49	chr9:116231000-116232400	Enhancers	Pancreas	Pancrea

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