Variant report

Variant	rs2286417
Chromosome Location	chr7:151078371-151078372
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:151078147..151081068-chr7:151136680..151139312,2	K562	blood:
2	chr7:151077370..151082377-chr7:151091271..151094481,5	K562	blood:
3	chr7:151077730..151080062-chr7:151081666..151085996,4	MCF-7	breast:
4	chr7:151073534..151076612-chr7:151076693..151079201,3	MCF-7	breast:
5	chr7:151076539..151080884-chr7:151119951..151124018,3	K562	blood:
6	chr7:151077780..151078693-chr7:151145411..151145984,2	K562	blood:
7	chr7:151070295..151074427-chr7:151076318..151079969,6	K562	blood:

Variant related genes	Relation type
ENSG00000127377	Chromatin interaction
ENSG00000187260	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10952309	0.88[ASN][1000 genomes]
rs4726019	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6963048	0.87[ASN][1000 genomes]
rs732749	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7787581	0.89[ASN][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	nsv889489	chr7:151064872-151115691	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:151063400-151078400	Weak transcription	Right Atrium	heart
2	chr7:151065800-151078800	Weak transcription	Fetal Heart	heart
3	chr7:151065800-151080800	Weak transcription	HMEC	breast
4	chr7:151066000-151083200	Weak transcription	Hela-S3	cervix
5	chr7:151074000-151079000	Weak transcription	HepG2	liver
6	chr7:151074400-151095000	Weak transcription	Fetal Kidney	kidney
7	chr7:151074800-151078400	Weak transcription	Small Intestine	intestine
8	chr7:151074800-151078800	Weak transcription	Brain Substantia Nigra	brain
9	chr7:151074800-151079000	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr7:151074800-151079000	Weak transcription	Fetal Lung	lung
11	chr7:151075000-151078400	Weak transcription	Colonic Mucosa	Colon
12	chr7:151075800-151079000	Weak transcription	A549	lung
13	chr7:151076000-151078400	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr7:151076000-151078600	Weak transcription	Left Ventricle	heart
15	chr7:151076400-151078600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr7:151076400-151078600	Weak transcription	Esophagus	oesophagus
17	chr7:151076600-151078600	Genic enhancers	Spleen	Spleen
18	chr7:151076600-151083600	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr7:151076800-151078400	Weak transcription	Primary T cells from cord blood	blood
20	chr7:151076800-151078400	Weak transcription	Liver	Liver
21	chr7:151076800-151078800	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr7:151076800-151079000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr7:151076800-151094800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr7:151077000-151078400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr7:151077000-151078400	Weak transcription	Lung	lung
26	chr7:151077000-151078600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr7:151077000-151078600	Weak transcription	Brain Hippocampus Middle	brain
28	chr7:151077000-151078800	Weak transcription	Gastric	stomach
29	chr7:151077200-151078400	Weak transcription	Pancreas	Pancrea
30	chr7:151077200-151078400	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr7:151077200-151079200	Weak transcription	Aorta	Aorta
32	chr7:151077200-151094200	Weak transcription	Dnd41	blood
33	chr7:151077400-151095000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr7:151077600-151079000	Weak transcription	Brain Angular Gyrus	brain
35	chr7:151077800-151078600	Enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr7:151078000-151078400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr7:151078000-151078400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr7:151078000-151078400	Flanking Active TSS	Primary B cells from cord blood	blood
39	chr7:151078000-151078400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
40	chr7:151078000-151078400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
41	chr7:151078000-151078400	Enhancers	Primary T killer memory cells from peripheral blood	blood
42	chr7:151078000-151078400	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
43	chr7:151078000-151078600	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
44	chr7:151078000-151078600	Flanking Active TSS	Primary B cells from peripheral blood	blood
45	chr7:151078000-151078600	Enhancers	Primary T helper naive cells from peripheral blood	blood
46	chr7:151078000-151078600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
47	chr7:151078000-151078800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
48	chr7:151078000-151078800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
49	chr7:151078000-151079000	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr7:151078000-151079000	Bivalent Enhancer	Fetal Muscle Trunk	muscle

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