Variant report

Variant	rs9596730
Chromosome Location	chr13:53522433-53522434
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

rs_ID	r²[population]
rs10161763	0.87[EUR][1000 genomes]
rs9591483	0.86[AFR][1000 genomes]
rs9652206	0.90[AFR][1000 genomes]
rs997686	1.00[AMR][1000 genomes];1.00[EUR][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	nsv530719	chr13:53173014-53675953	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	esv3440613	chr13:53307609-53671072	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:53510400-53524400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr13:53516600-53525600	Enhancers	Primary neutrophils fromperipheralblood	blood
3	chr13:53517800-53523400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr13:53521000-53522800	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr13:53521400-53522800	Enhancers	Brain Anterior Caudate	brain
6	chr13:53521400-53522800	Enhancers	Dnd41	blood
7	chr13:53521400-53522800	Enhancers	Monocytes-CD14+_RO01746	blood
8	chr13:53521600-53522600	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr13:53521600-53522600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr13:53521600-53522800	Enhancers	Fetal Brain Male	brain
11	chr13:53521600-53523200	Enhancers	Fetal Muscle Trunk	muscle
12	chr13:53521600-53524800	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr13:53521600-53525200	Enhancers	Fetal Stomach	stomach
14	chr13:53521800-53522600	Enhancers	Brain Germinal Matrix	brain
15	chr13:53521800-53522600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
16	chr13:53521800-53522800	Enhancers	H1 Cell Line	embryonic stem cell
17	chr13:53521800-53522800	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr13:53521800-53522800	Enhancers	Duodenum Smooth Muscle	Duodenum
19	chr13:53521800-53523000	Enhancers	H9 Cell Line	embryonic stem cell
20	chr13:53521800-53524800	Enhancers	Fetal Muscle Leg	muscle
21	chr13:53521800-53526000	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr13:53522000-53522600	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr13:53522000-53522600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr13:53522000-53522800	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr13:53522000-53522800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
26	chr13:53522000-53522800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr13:53522000-53522800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr13:53522000-53522800	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr13:53522000-53522800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr13:53522000-53523000	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr13:53522000-53525400	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr13:53522200-53522600	Enhancers	Fetal Brain Female	brain
33	chr13:53522200-53522800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr13:53522200-53522800	Enhancers	Spleen	Spleen
35	chr13:53522200-53523200	Weak transcription	Brain Substantia Nigra	brain
36	chr13:53522200-53523800	Weak transcription	Brain Hippocampus Middle	brain
37	chr13:53522400-53522600	Bivalent Enhancer	Liver	Liver
38	chr13:53522400-53522800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr13:53522400-53523800	Weak transcription	Brain Cingulate Gyrus	brain

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