Variant report

Variant	rs7030566
Chromosome Location	chr9:123270945-123270946
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:123263216..123265024-chr9:123268935..123271826,2	MCF-7	breast:
2	chr9:123270617..123272132-chr9:123336738..123338470,2	K562	blood:
3	chr9:123269055..123271832-chr9:123289922..123291457,2	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs73660266	1.00[AMR][1000 genomes]
rs73660267	0.81[AFR][1000 genomes]
rs73660268	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73660269	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73660271	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv825069	chr9:123220951-123294240	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	esv33143	chr9:123253701-123471089	Weak transcription Bivalent Enhancer Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv831711	chr9:123265308-123467641	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:123208800-123294200	Weak transcription	Stomach Mucosa	stomach
2	chr9:123237600-123287600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr9:123239800-123278800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr9:123243600-123287200	Weak transcription	NHLF	lung
5	chr9:123245000-123275800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr9:123246000-123285000	Weak transcription	Psoas Muscle	Psoas
7	chr9:123249600-123273400	Weak transcription	HMEC	breast
8	chr9:123249800-123274800	Weak transcription	Placenta	Placenta
9	chr9:123250200-123271200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr9:123250200-123274200	Weak transcription	Right Ventricle	heart
11	chr9:123250200-123286800	Weak transcription	Colonic Mucosa	Colon
12	chr9:123253000-123272800	Weak transcription	NHDF-Ad	bronchial
13	chr9:123253000-123273400	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr9:123253000-123276200	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr9:123253200-123275800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr9:123253400-123272600	Weak transcription	Esophagus	oesophagus
17	chr9:123253400-123272800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr9:123253400-123273200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr9:123253400-123274800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr9:123253400-123275600	Weak transcription	Colon Smooth Muscle	Colon
21	chr9:123253400-123275600	Weak transcription	Small Intestine	intestine
22	chr9:123253400-123279000	Weak transcription	Pancreas	Pancrea
23	chr9:123253400-123279000	Weak transcription	NH-A	brain
24	chr9:123253600-123287200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr9:123253800-123277600	Weak transcription	HUVEC	blood vessel
26	chr9:123254200-123286400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr9:123260800-123278800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr9:123262600-123273200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr9:123262600-123277400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr9:123263000-123278000	Strong transcription	Rectal Mucosa Donor 29	rectum
31	chr9:123263200-123272800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr9:123263200-123273600	Strong transcription	Monocytes-CD14+_RO01746	blood
33	chr9:123263200-123283200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr9:123263600-123277200	Strong transcription	Fetal Intestine Large	intestine
35	chr9:123263600-123313800	Strong transcription	Fetal Thymus	thymus
36	chr9:123263600-123314200	Strong transcription	Primary B cells from peripheral blood	blood
37	chr9:123263800-123273200	Strong transcription	Hela-S3	cervix
38	chr9:123263800-123282400	Strong transcription	Primary T cells fromperipheralblood	blood
39	chr9:123264000-123273200	Strong transcription	A549	lung
40	chr9:123264000-123282800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr9:123264200-123274600	Weak transcription	Osteobl	bone
42	chr9:123264400-123273400	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr9:123264800-123276200	Weak transcription	Brain Anterior Caudate	brain
44	chr9:123264800-123276400	Weak transcription	Gastric	stomach
45	chr9:123266200-123274400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr9:123266200-123279000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr9:123267000-123271000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr9:123267000-123275800	Weak transcription	Spleen	Spleen
49	chr9:123267400-123271000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
50	chr9:123267400-123296200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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