Variant report

Variant	rs62525903
Chromosome Location	chr8:61838384-61838385
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:61835952..61838593-chr8:61841536..61843319,2	K562	blood:
2	chr8:61837800..61840133-chr8:61855900..61858739,2	MCF-7	breast:
3	chr8:61836839..61839407-chr8:61851968..61854630,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CLVS1-1	chr8:61838352-61838934	NONHSAT126853

Variant related genes	Relation type
ENSG00000255397	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10808715	0.92[ASN][1000 genomes]
rs13257990	0.92[ASN][1000 genomes]
rs16926586	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34434045	0.89[ASN][1000 genomes]
rs4644237	0.82[ASN][1000 genomes]
rs56764036	0.97[ASN][1000 genomes]
rs58023506	0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs62525904	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62525905	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62525907	0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs62525909	0.90[ASN][1000 genomes]
rs7821046	0.90[ASN][1000 genomes]
rs7827015	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7838737	0.92[ASN][1000 genomes]
rs7839575	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917756	chr8:60942299-61862796	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv526196	chr8:61593569-61877623	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	esv1795586	chr8:61733174-61863906	Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv429919	chr8:61771472-61979873	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	nsv890947	chr8:61815886-61882751	Active TSS Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv948922	chr8:61818964-62475097	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61832400-61838800	Weak transcription	HSMMtube	muscle
2	chr8:61833600-61839200	Enhancers	Primary T cells from cord blood	blood
3	chr8:61834800-61839200	Enhancers	Primary T cells fromperipheralblood	blood
4	chr8:61835200-61839400	Enhancers	Primary B cells from cord blood	blood
5	chr8:61835200-61839400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr8:61835400-61838600	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr8:61835400-61838600	Enhancers	GM12878-XiMat	blood
8	chr8:61835400-61838800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
9	chr8:61835400-61838800	Enhancers	Primary T helper cells fromperipheralblood	blood
10	chr8:61835400-61839400	Enhancers	Thymus	Thymus
11	chr8:61835400-61842600	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr8:61835400-61843000	Enhancers	Primary hematopoietic stem cells	blood
13	chr8:61835600-61839000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr8:61835800-61838800	Enhancers	Primary T killer memory cells from peripheral blood	blood
15	chr8:61835800-61839400	Enhancers	Primary B cells from peripheral blood	blood
16	chr8:61835800-61839400	Enhancers	Fetal Thymus	thymus
17	chr8:61835800-61840800	Enhancers	Brain Hippocampus Middle	brain
18	chr8:61836000-61838600	Enhancers	Primary T helper naive cells from peripheral blood	blood
19	chr8:61836000-61838600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
20	chr8:61836000-61839800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr8:61836000-61839800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
22	chr8:61836200-61838800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr8:61836200-61839400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr8:61836200-61839800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr8:61836400-61838600	Weak transcription	Right Atrium	heart
26	chr8:61836400-61839000	Enhancers	Primary neutrophils fromperipheralblood	blood
27	chr8:61836800-61838600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr8:61836800-61838600	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr8:61836800-61838800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr8:61836800-61839000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr8:61836800-61839800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr8:61836800-61841800	Weak transcription	Spleen	Spleen
33	chr8:61837000-61838600	Weak transcription	Brain Cingulate Gyrus	brain
34	chr8:61837000-61838800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr8:61837000-61840600	Enhancers	Fetal Muscle Leg	muscle
36	chr8:61837000-61842000	Weak transcription	Colonic Mucosa	Colon
37	chr8:61837000-61842200	Weak transcription	Gastric	stomach
38	chr8:61837200-61838400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr8:61837200-61839200	Weak transcription	Rectal Smooth Muscle	rectum
40	chr8:61837200-61839200	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr8:61837200-61840000	Enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr8:61837400-61838400	Weak transcription	Placenta	Placenta
43	chr8:61837600-61838600	Weak transcription	Fetal Muscle Trunk	muscle
44	chr8:61837600-61839200	Enhancers	Duodenum Mucosa	Duodenum
45	chr8:61837600-61840600	Enhancers	Brain Substantia Nigra	brain
46	chr8:61838000-61838400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr8:61838000-61838600	Enhancers	Rectal Mucosa Donor 29	rectum
48	chr8:61838000-61838800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr8:61838000-61839400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
50	chr8:61838000-61839400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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