Variant report

Variant	rs4915597
Chromosome Location	chr1:62157392-62157393
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	chr1:62157037..62159545-chr1:62162832..62164791,2	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1151759	0.80[AFR][1000 genomes]
rs1151762	0.80[AFR][1000 genomes]
rs12120264	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1315521	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61770089	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7517261	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv994970	chr1:61693951-62199657	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv1000294	chr1:61746280-62350718	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:62126000-62165200	Weak transcription	Brain Cingulate Gyrus	brain
2	chr1:62131600-62163800	Weak transcription	Thymus	Thymus
3	chr1:62134800-62164400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr1:62134800-62164400	Weak transcription	Right Ventricle	heart
5	chr1:62135000-62165000	Weak transcription	Brain Germinal Matrix	brain
6	chr1:62136800-62173800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr1:62138800-62189600	Weak transcription	Psoas Muscle	Psoas
8	chr1:62140000-62189000	Weak transcription	NHLF	lung
9	chr1:62140200-62163800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr1:62142800-62157800	Weak transcription	A549	lung
11	chr1:62142800-62172200	Weak transcription	Ovary	ovary
12	chr1:62142800-62188600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr1:62143200-62157800	Weak transcription	Colon Smooth Muscle	Colon
14	chr1:62143200-62164000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr1:62143600-62163400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr1:62143800-62165600	Weak transcription	Stomach Mucosa	stomach
17	chr1:62143800-62170200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr1:62144200-62162800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr1:62144600-62163800	Weak transcription	Spleen	Spleen
20	chr1:62144600-62164800	Weak transcription	Fetal Brain Female	brain
21	chr1:62144600-62165000	Weak transcription	Brain Substantia Nigra	brain
22	chr1:62144600-62165600	Weak transcription	HepG2	liver
23	chr1:62144800-62161400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr1:62144800-62161600	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr1:62144800-62163000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr1:62144800-62164400	Weak transcription	Fetal Brain Male	brain
27	chr1:62145000-62162600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr1:62145000-62163000	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr1:62145000-62164800	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr1:62145000-62165000	Weak transcription	NH-A	brain
31	chr1:62145000-62172200	Weak transcription	Colonic Mucosa	Colon
32	chr1:62145200-62167400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr1:62146000-62163600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr1:62146200-62163800	Weak transcription	HSMMtube	muscle
35	chr1:62146200-62190200	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr1:62146400-62164200	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr1:62146400-62166000	Weak transcription	Brain Angular Gyrus	brain
38	chr1:62146600-62164000	Weak transcription	Gastric	stomach
39	chr1:62146600-62164800	Weak transcription	Esophagus	oesophagus
40	chr1:62146600-62165200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr1:62146600-62166000	Weak transcription	Rectal Smooth Muscle	rectum
42	chr1:62146800-62157800	Weak transcription	Hela-S3	cervix
43	chr1:62147000-62164400	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr1:62147200-62164800	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr1:62147600-62173400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr1:62148000-62164800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr1:62148200-62162800	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr1:62148400-62162600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr1:62148400-62165200	Weak transcription	Fetal Kidney	kidney
50	chr1:62148800-62157800	Weak transcription	Rectal Mucosa Donor 31	rectum

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