Variant report

Variant	rs6845221
Chromosome Location	chr4:143300013-143300014
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:143276856..143278860-chr4:143299385..143301357,2	MCF-7	breast:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10519654	1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10519658	0.90[YRI][hapmap];1.00[AMR][1000 genomes]
rs1489579	0.82[YRI][hapmap];1.00[AMR][1000 genomes]
rs16998546	1.00[AMR][1000 genomes]
rs17016047	1.00[AMR][1000 genomes]
rs17016073	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17016097	0.82[YRI][hapmap];1.00[AMR][1000 genomes]
rs28361347	1.00[AMR][1000 genomes]
rs28552507	1.00[AMR][1000 genomes]
rs55734648	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55924247	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58466279	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59339281	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60408738	1.00[AMR][1000 genomes]
rs61368063	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61643803	1.00[AMR][1000 genomes]
rs72941201	1.00[AMR][1000 genomes]
rs72944962	1.00[AMR][1000 genomes]
rs72944976	0.95[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	nsv498005	chr4:142515689-143502988	Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv1027781	chr4:142943485-143306567	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv830100	chr4:143216951-143393305	Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:143289000-143300600	Weak transcription	Stomach Smooth Muscle	stomach
2	chr4:143290400-143305800	Weak transcription	Primary hematopoietic stem cells	blood
3	chr4:143290400-143322000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr4:143293400-143302800	Enhancers	Primary T helper naive cells from peripheral blood	blood
5	chr4:143294200-143300800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr4:143294200-143305400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr4:143295200-143305000	Weak transcription	Small Intestine	intestine
8	chr4:143295400-143301400	Enhancers	Primary T killer memory cells from peripheral blood	blood
9	chr4:143296000-143301800	Enhancers	Fetal Heart	heart
10	chr4:143296200-143300600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr4:143296600-143310200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr4:143296800-143301000	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr4:143297000-143300400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr4:143297000-143300400	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr4:143297000-143300400	Weak transcription	Fetal Intestine Small	intestine
16	chr4:143297000-143300800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr4:143297000-143300800	Weak transcription	A549	lung
18	chr4:143297000-143301000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr4:143297200-143300400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr4:143297600-143300400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr4:143297800-143301000	Enhancers	Muscle Satellite Cultured Cells	--
22	chr4:143297800-143301000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr4:143298400-143302400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr4:143298600-143300400	Enhancers	Primary T cells from cord blood	blood
25	chr4:143298600-143300400	Enhancers	HSMMtube	muscle
26	chr4:143298600-143300400	Enhancers	Osteobl	bone
27	chr4:143298600-143301800	Enhancers	NHLF	lung
28	chr4:143299000-143300200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr4:143299000-143300600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr4:143299000-143301400	Enhancers	Placenta Amnion	Placenta Amnion
31	chr4:143299000-143302200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr4:143299000-143302200	Enhancers	NHDF-Ad	bronchial
33	chr4:143299000-143303200	Enhancers	Primary T helper cells fromperipheralblood	blood
34	chr4:143299200-143300800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr4:143299200-143301000	Weak transcription	Dnd41	blood
36	chr4:143299200-143301400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
37	chr4:143299200-143301600	Enhancers	Skeletal Muscle Male	skeletal muscle
38	chr4:143299200-143302200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr4:143299400-143301400	Enhancers	Fetal Muscle Leg	muscle
40	chr4:143299400-143302200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr4:143299600-143300400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr4:143299600-143300400	Weak transcription	Psoas Muscle	Psoas
43	chr4:143299600-143300800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr4:143299600-143300800	Weak transcription	Primary T cells fromperipheralblood	blood
45	chr4:143299600-143300800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
46	chr4:143299600-143300800	Weak transcription	Ovary	ovary
47	chr4:143299600-143301000	Weak transcription	Left Ventricle	heart
48	chr4:143299600-143301000	Weak transcription	Pancreas	Pancrea
49	chr4:143299600-143301000	Weak transcription	Right Atrium	heart
50	chr4:143299600-143301200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood

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