Variant report

Variant	rs61696507
Chromosome Location	chr14:73009215-73009216
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	chr14:73007241..73009547-chr14:73013161..73015257,2	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10151504	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17117195	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17117221	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56771173	1.00[EUR][1000 genomes]
rs57401932	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57800820	0.80[ASN][1000 genomes]
rs58361653	1.00[EUR][1000 genomes]
rs59781747	0.80[ASN][1000 genomes]
rs60642139	1.00[EUR][1000 genomes]
rs61175412	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv530794	chr14:72113818-73034008	Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer 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	8 gene(s)	inside rSNPs	diseases
2	nsv948800	chr14:72462557-73150701	Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:72984400-73011000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr14:72999400-73009600	Strong transcription	Cortex derived primary cultured neurospheres	brain
3	chr14:73000200-73010000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr14:73000200-73010000	Weak transcription	Right Ventricle	heart
5	chr14:73002200-73009800	Weak transcription	Brain Substantia Nigra	brain
6	chr14:73003000-73010800	Weak transcription	Fetal Brain Female	brain
7	chr14:73003400-73011000	Weak transcription	Spleen	Spleen
8	chr14:73004200-73009800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr14:73006200-73010200	Weak transcription	Fetal Intestine Large	intestine
10	chr14:73006800-73010000	Weak transcription	Fetal Brain Male	brain
11	chr14:73007200-73009600	Weak transcription	Primary hematopoietic stem cells	blood
12	chr14:73007200-73009800	Weak transcription	Fetal Thymus	thymus
13	chr14:73007200-73011000	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr14:73007200-73011200	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr14:73007400-73009600	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr14:73007400-73010000	Weak transcription	Fetal Lung	lung
17	chr14:73007600-73009600	Weak transcription	Fetal Muscle Leg	muscle
18	chr14:73007600-73010200	Weak transcription	Primary B cells from cord blood	blood
19	chr14:73007600-73010800	Weak transcription	Ovary	ovary
20	chr14:73007600-73011000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr14:73007800-73009800	Weak transcription	Primary B cells from peripheral blood	blood
22	chr14:73007800-73009800	Weak transcription	Fetal Stomach	stomach
23	chr14:73007800-73011200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr14:73009000-73016400	Enhancers	HSMMtube	muscle

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