Variant report

Variant	rs9307228
Chromosome Location	chr4:99570810-99570811
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	chr4:99566031..99568525-chr4:99568795..99571513,2	MCF-7	breast:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10034419	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12505801	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12507328	0.92[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1528545	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2866014	0.99[ASN][1000 genomes]
rs28713515	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61519543	0.80[ASN][1000 genomes]
rs6532755	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6837798	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6837860	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6837959	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7661136	0.95[ASN][1000 genomes]
rs7671702	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7686325	0.95[ASN][1000 genomes]
rs871473	0.98[ASN][1000 genomes]
rs9991053	0.85[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv594940	chr4:99542475-99573350	Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:99548000-99577000	Weak transcription	Esophagus	oesophagus
2	chr4:99564000-99571600	Enhancers	Brain Inferior Temporal Lobe	brain
3	chr4:99564400-99575600	Weak transcription	Fetal Kidney	kidney
4	chr4:99565200-99571200	Weak transcription	A549	lung
5	chr4:99565200-99571200	Weak transcription	NHEK	skin
6	chr4:99565200-99571400	Weak transcription	Primary hematopoietic stem cells	blood
7	chr4:99565200-99571400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr4:99565200-99571400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr4:99565800-99571200	Enhancers	Brain Anterior Caudate	brain
10	chr4:99565800-99571200	Enhancers	Brain Substantia Nigra	brain
11	chr4:99566000-99571200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
12	chr4:99566000-99575200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr4:99567000-99571000	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr4:99567000-99571000	Enhancers	HUVEC	blood vessel
15	chr4:99567600-99574200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr4:99567600-99574400	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr4:99567600-99574800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr4:99568200-99571600	Enhancers	Fetal Brain Female	brain
19	chr4:99568200-99571600	Enhancers	NHDF-Ad	bronchial
20	chr4:99568400-99575000	Weak transcription	Thymus	Thymus
21	chr4:99569200-99571200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr4:99569200-99571200	Enhancers	Ovary	ovary
23	chr4:99569400-99571000	Enhancers	NH-A	brain
24	chr4:99569600-99578200	Weak transcription	Aorta	Aorta
25	chr4:99569600-99578400	Weak transcription	Spleen	Spleen
26	chr4:99569800-99571600	Enhancers	Brain Cingulate Gyrus	brain
27	chr4:99570000-99576800	Weak transcription	Fetal Stomach	stomach
28	chr4:99570200-99571000	Weak transcription	Brain Angular Gyrus	brain
29	chr4:99570200-99571600	Enhancers	Osteobl	bone
30	chr4:99570200-99571800	Weak transcription	HMEC	breast
31	chr4:99570200-99573800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr4:99570200-99573800	Weak transcription	Fetal Brain Male	brain
33	chr4:99570200-99577000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr4:99570200-99577000	Weak transcription	Fetal Heart	heart
35	chr4:99570400-99571400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr4:99570400-99573800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr4:99570600-99571200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr4:99570600-99572000	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr4:99570600-99572200	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr4:99570600-99573800	Weak transcription	Brain Hippocampus Middle	brain
41	chr4:99570800-99571000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr4:99570800-99571000	Enhancers	Cortex derived primary cultured neurospheres	brain
43	chr4:99570800-99571200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr4:99570800-99571200	Strong transcription	HSMM	muscle
45	chr4:99570800-99571400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr4:99570800-99571600	ZNF genes & repeats	NHLF	lung

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