Variant report

Variant	rs7696512
Chromosome Location	chr4:16125854-16125855
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:16121350..16123932-chr4:16125309..16128165,2	K562	blood:
2	chr4:16124104..16125926-chr4:16130519..16132504,2	K562	blood:
3	chr4:16125616..16127346-chr4:16129088..16131247,2	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10000737	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10000740	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11947876	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17418867	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28422061	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs317902	0.83[EUR][1000 genomes]
rs56119267	1.00[ASN][1000 genomes]
rs59747831	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7666255	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7667214	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7696910	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv998299	chr4:16031459-16226466	Bivalent/Poised TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	nsv1004821	chr4:16055996-16830629	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv537046	chr4:16055996-16830629	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:16123200-16128200	Enhancers	Primary hematopoietic stem cells	blood
2	chr4:16123400-16127800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr4:16123600-16126000	Enhancers	Primary T cells fromperipheralblood	blood
4	chr4:16123600-16126000	Enhancers	Primary T helper cells fromperipheralblood	blood
5	chr4:16123800-16126000	Enhancers	Primary T helper cells PMA-I stimulated	--
6	chr4:16124000-16128400	Enhancers	Fetal Muscle Leg	muscle
7	chr4:16124200-16126000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
8	chr4:16124400-16126200	Enhancers	Pancreas	Pancrea
9	chr4:16124400-16128600	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr4:16124800-16126200	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr4:16124800-16126200	Enhancers	Fetal Muscle Trunk	muscle
12	chr4:16124800-16132600	Enhancers	Fetal Heart	heart
13	chr4:16125000-16126000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr4:16125000-16126000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr4:16125000-16126200	Enhancers	Right Ventricle	heart
16	chr4:16125000-16126600	Enhancers	Right Atrium	heart
17	chr4:16125200-16126200	Enhancers	Left Ventricle	heart
18	chr4:16125200-16127800	Enhancers	Primary T cells from cord blood	blood
19	chr4:16125400-16126000	Weak transcription	Brain Hippocampus Middle	brain
20	chr4:16125400-16126200	Enhancers	Duodenum Mucosa	Duodenum
21	chr4:16125400-16127200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr4:16125400-16128000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr4:16125400-16130000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr4:16125600-16126200	Enhancers	Fetal Brain Male	brain
25	chr4:16125800-16126800	Weak transcription	HepG2	liver
26	chr4:16125800-16127000	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr4:16125800-16127200	Weak transcription	Stomach Mucosa	stomach
28	chr4:16125800-16127400	Weak transcription	Fetal Intestine Large	intestine
29	chr4:16125800-16127400	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr4:16125800-16131200	Weak transcription	Sigmoid Colon	Sigmoid Colon

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