Variant report

Variant	rs9997247
Chromosome Location	chr4:26988841-26988842
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:26876720..26878835-chr4:26986672..26989304,2	MCF-7	breast:

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10001152	1.00[AMR][1000 genomes]
rs10003072	1.00[AMR][1000 genomes]
rs10004586	1.00[AMR][1000 genomes]
rs10029816	1.00[AMR][1000 genomes]
rs10031739	1.00[AMR][1000 genomes]
rs10213141	1.00[AMR][1000 genomes]
rs10213530	1.00[AMR][1000 genomes]
rs11944899	1.00[AMR][1000 genomes]
rs13434414	1.00[AMR][1000 genomes]
rs16878680	1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs28368519	1.00[AMR][1000 genomes]
rs28371138	1.00[AMR][1000 genomes]
rs28445792	1.00[AMR][1000 genomes]
rs28447383	1.00[AMR][1000 genomes]
rs28453819	1.00[AMR][1000 genomes]
rs28493450	1.00[AMR][1000 genomes]
rs28626184	1.00[AMR][1000 genomes]
rs28638023	1.00[AMR][1000 genomes]
rs28647178	1.00[AMR][1000 genomes]
rs28653517	1.00[AMR][1000 genomes]
rs28667144	1.00[AMR][1000 genomes]
rs28688827	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28690636	1.00[AMR][1000 genomes]
rs28733863	1.00[AMR][1000 genomes]
rs28819422	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28850050	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4422408	1.00[AMR][1000 genomes]
rs56169951	1.00[AMR][1000 genomes]
rs61075882	0.86[AFR][1000 genomes]
rs6821940	1.00[AMR][1000 genomes]
rs6848664	1.00[AMR][1000 genomes]
rs6853163	1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs73811393	1.00[AMR][1000 genomes]
rs73811398	1.00[AMR][1000 genomes]
rs73813221	1.00[AMR][1000 genomes]
rs73813250	1.00[AMR][1000 genomes]
rs73813253	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7700093	1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs9990447	1.00[AMR][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	nsv470021	chr4:26721578-27067027	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv461312	chr4:26844674-27078376	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv593872	chr4:26844674-27078376	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv1000568	chr4:26886920-27049554	Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:26961800-26994000	Weak transcription	Monocytes-CD14+_RO01746	blood
2	chr4:26963600-26994200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr4:26966600-26989000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr4:26966600-26994600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr4:26975800-27003200	Weak transcription	Aorta	Aorta
6	chr4:26978000-26994600	Weak transcription	Fetal Stomach	stomach
7	chr4:26978400-27019200	Weak transcription	Fetal Intestine Small	intestine
8	chr4:26980400-26994800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr4:26980400-27019400	Weak transcription	Left Ventricle	heart
10	chr4:26984600-26989000	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr4:26984800-26989000	Weak transcription	HepG2	liver
12	chr4:26984800-26989400	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr4:26984800-26993400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr4:26984800-26993400	Weak transcription	Brain Hippocampus Middle	brain
15	chr4:26985400-26989600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr4:26985400-27019400	Weak transcription	Esophagus	oesophagus
17	chr4:26985800-26989000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
18	chr4:26986000-26994400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr4:26986200-26989400	Enhancers	Primary T helper naive cells from peripheral blood	blood
20	chr4:26986200-26989600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr4:26986200-26994400	Weak transcription	Right Atrium	heart
22	chr4:26986400-26989000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
23	chr4:26986400-26989000	Enhancers	Fetal Heart	heart
24	chr4:26986400-26989400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
25	chr4:26986400-26989400	Enhancers	HSMMtube	muscle
26	chr4:26986400-26994600	Weak transcription	Small Intestine	intestine
27	chr4:26986600-26989000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr4:26986600-26989200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
29	chr4:26986600-26989200	Enhancers	GM12878-XiMat	blood
30	chr4:26987000-26989000	Enhancers	HSMM	muscle
31	chr4:26987000-26989400	Enhancers	Primary T killer memory cells from peripheral blood	blood
32	chr4:26987200-26989000	Enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr4:26987200-26989600	Enhancers	Primary B cells from peripheral blood	blood
34	chr4:26987600-26989000	Enhancers	Primary T cells fromperipheralblood	blood
35	chr4:26987800-26994000	Weak transcription	Primary hematopoietic stem cells	blood
36	chr4:26987800-26994000	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr4:26987800-26994000	Weak transcription	Osteobl	bone
38	chr4:26988000-26989800	Enhancers	Primary T helper cells PMA-I stimulated	--
39	chr4:26988200-26989000	Enhancers	Primary T cells from cord blood	blood
40	chr4:26988400-26989400	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr4:26988400-26989600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr4:26988400-26994600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr4:26988400-26998000	Weak transcription	Dnd41	blood
44	chr4:26988600-26989000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr4:26988600-26989000	Enhancers	Fetal Thymus	thymus
46	chr4:26988600-26989000	Enhancers	Thymus	Thymus
47	chr4:26988600-26989400	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr4:26988600-26989400	Enhancers	Fetal Muscle Leg	muscle
49	chr4:26988600-26990000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr4:26988800-26989000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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