Variant report

Variant	rs60305447
Chromosome Location	chr2:85982450-85982451
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:85981293..85984643-chr2:85987254..85991080,5	MCF-7	breast:
2	chr2:85981986..85982944-chr2:86031490..86032404,2	MCF-7	breast:
3	chr2:85976672..85979342-chr2:85979775..85983871,4	K562	blood:
4	chr2:85976745..85979342-chr2:85979775..85983018,3	K562	blood:

Variant related genes	Relation type
ENSG00000168874	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs60333657	1.00[AMR][1000 genomes]
rs72926969	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874468	chr2:85926598-86001255	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1012593	chr2:85966323-85997189	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv874469	chr2:85973618-86025251	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
4	nsv874470	chr2:85973618-86028257	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
5	nsv874471	chr2:85976645-86021919	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
6	esv3326551	chr2:85980466-85983314	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv829487	chr2:85980599-85983121	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 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	chr2:85980000-85982800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
2	chr2:85980000-85983000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
3	chr2:85980000-85983400	Active TSS	Right Atrium	heart
4	chr2:85980200-85983200	Active TSS	Left Ventricle	heart
5	chr2:85980200-85983400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr2:85980200-85983400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr2:85980200-85983600	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
8	chr2:85980200-85984400	Active TSS	Aorta	Aorta
9	chr2:85980400-85982600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr2:85980400-85982600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
11	chr2:85980400-85982600	Active TSS	Brain Cingulate Gyrus	brain
12	chr2:85980400-85982600	Active TSS	Colon Smooth Muscle	Colon
13	chr2:85980400-85982800	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr2:85980400-85982800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr2:85980400-85983000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
16	chr2:85980400-85983000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
17	chr2:85980400-85983200	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
18	chr2:85980400-85983400	Active TSS	Brain Substantia Nigra	brain
19	chr2:85980400-85983600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
20	chr2:85980400-85983800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
21	chr2:85980600-85982600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr2:85980600-85982600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr2:85980600-85982600	Active TSS	Pancreatic Islets	Pancreatic Islet
24	chr2:85980600-85982600	Active TSS	Osteobl	bone
25	chr2:85980600-85982800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
26	chr2:85980600-85982800	Active TSS	Hela-S3	cervix
27	chr2:85980600-85983400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr2:85980600-85983400	Active TSS	Brain Anterior Caudate	brain
29	chr2:85980600-85983400	Active TSS	HSMM	muscle
30	chr2:85980600-85983400	Active TSS	NHDF-Ad	bronchial
31	chr2:85980600-85983600	Active TSS	HSMMtube	muscle
32	chr2:85980600-85984000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
33	chr2:85980800-85982800	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
34	chr2:85980800-85983000	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
35	chr2:85980800-85983200	Active TSS	Fetal Lung	lung
36	chr2:85980800-85983400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr2:85980800-85983400	Active TSS	NHLF	lung
38	chr2:85980800-85983800	Active TSS	Lung	lung
39	chr2:85980800-85984600	Active TSS	Psoas Muscle	Psoas
40	chr2:85981000-85982600	Flanking Bivalent TSS/Enh	Thymus	Thymus
41	chr2:85981000-85982600	Bivalent Enhancer	HMEC	breast
42	chr2:85981000-85982800	Flanking Active TSS	Primary hematopoietic stem cells	blood
43	chr2:85981000-85982800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr2:85981000-85983400	Active TSS	Gastric	stomach
45	chr2:85981200-85982600	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
46	chr2:85981200-85983000	Flanking Active TSS	Pancreas	Pancrea
47	chr2:85981200-85983200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr2:85981200-85984800	Flanking Active TSS	Adipose Nuclei	Adipose
49	chr2:85981400-85982600	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
50	chr2:85981400-85982800	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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