Variant report

Variant	rs28714213
Chromosome Location	chr7:99978406-99978407
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	chr7:99962514..99964875-chr7:99978012..99980552,2	K562	blood:
2	chr7:99978047..99980916-chr7:99994472..99996088,2	K562	blood:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs2286265	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4596570	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62482199	0.82[EUR][1000 genomes]
rs62482210	0.82[AMR][1000 genomes];0.82[EUR][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	esv3350965	chr7:99747460-100146105	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	304 gene(s)	inside rSNPs	diseases
2	esv1829095	chr7:99814675-100494084	Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	393 gene(s)	inside rSNPs	diseases
3	nsv831071	chr7:99918025-100113413	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	287 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:99940800-100014600	Weak transcription	Right Atrium	heart
2	chr7:99960400-99984800	Weak transcription	Pancreas	Pancrea
3	chr7:99960600-99985200	Weak transcription	Aorta	Aorta
4	chr7:99962400-100020600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr7:99965200-99979200	Weak transcription	Right Ventricle	heart
6	chr7:99966400-99998000	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr7:99969400-99982600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr7:99970200-99978600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr7:99970400-99982400	Weak transcription	Hela-S3	cervix
10	chr7:99970600-99978800	Weak transcription	Primary T cells from cord blood	blood
11	chr7:99970800-99981600	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr7:99971000-99979600	Weak transcription	Stomach Smooth Muscle	stomach
13	chr7:99971400-99981600	Weak transcription	Fetal Muscle Leg	muscle
14	chr7:99972200-99984600	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr7:99972600-99996000	Weak transcription	Brain Hippocampus Middle	brain
16	chr7:99972800-99979800	Weak transcription	Adipose Nuclei	Adipose
17	chr7:99972800-99987400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr7:99972800-99994800	Weak transcription	Spleen	Spleen
19	chr7:99973000-99981600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr7:99973000-99999400	Weak transcription	Brain Anterior Caudate	brain
21	chr7:99973600-99987400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr7:99974000-99980200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr7:99974000-99980200	Weak transcription	K562	blood
24	chr7:99976200-99998200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr7:99977000-99989800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr7:99977400-99978600	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr7:99977400-99978600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr7:99977400-99979000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr7:99977800-99980600	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr7:99978000-99981600	Weak transcription	GM12878-XiMat	blood
31	chr7:99978200-99981800	Weak transcription	Primary B cells from cord blood	blood
32	chr7:99978400-99979800	Enhancers	Monocytes-CD14+_RO01746	blood
33	chr7:99978400-99980000	Enhancers	Primary neutrophils fromperipheralblood	blood
34	chr7:99978400-99980400	Weak transcription	Primary hematopoietic stem cells	blood

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