Variant report

Variant	rs73103607
Chromosome Location	chr5:60565412-60565413
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:60564842..60567352-chr5:60626995..60629601,2	K562	blood:
2	chr5:60562038..60564106-chr5:60564910..60567550,2	MCF-7	breast:
3	chr5:60555601..60558433-chr5:60563419..60566177,2	K562	blood:

Variant related genes	Relation type
ENSG00000130449	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10051279	1.00[AMR][1000 genomes]
rs10054080	1.00[AMR][1000 genomes]
rs10055806	1.00[AMR][1000 genomes]
rs10057354	1.00[AMR][1000 genomes]
rs10073626	1.00[AMR][1000 genomes]
rs10079312	1.00[AMR][1000 genomes]
rs10471270	1.00[AMR][1000 genomes]
rs10471506	1.00[AMR][1000 genomes]
rs55772332	1.00[AMR][1000 genomes]
rs59299298	1.00[AMR][1000 genomes]
rs59481395	1.00[AMR][1000 genomes]
rs60636715	1.00[AMR][1000 genomes]
rs73101794	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73101796	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7443689	1.00[AMR][1000 genomes]
rs9291716	0.84[AFR][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	nsv1034038	chr5:60375328-60607654	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	nsv1028884	chr5:60414723-60732779	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:60550400-60573400	Weak transcription	Gastric	stomach
2	chr5:60556000-60570200	Weak transcription	HSMM	muscle
3	chr5:60558000-60566400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr5:60560000-60569200	Weak transcription	Primary hematopoietic stem cells	blood
5	chr5:60560400-60569400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr5:60560600-60569000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr5:60560800-60571200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr5:60561000-60569000	Weak transcription	Brain Substantia Nigra	brain
9	chr5:60561000-60573200	Weak transcription	Brain Hippocampus Middle	brain
10	chr5:60563000-60567400	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr5:60564000-60566600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
12	chr5:60564400-60565600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
13	chr5:60564600-60565800	Enhancers	Primary B cells from peripheral blood	blood
14	chr5:60564600-60565800	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr5:60564600-60566000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr5:60564600-60570800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr5:60564600-60575400	Weak transcription	Fetal Intestine Small	intestine
18	chr5:60564600-60576000	Weak transcription	Psoas Muscle	Psoas
19	chr5:60564800-60565600	Enhancers	Primary T helper naive cells from peripheral blood	blood
20	chr5:60564800-60565600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr5:60564800-60566000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr5:60565000-60565800	Enhancers	Primary T killer memory cells from peripheral blood	blood
23	chr5:60565000-60566000	Enhancers	Primary T helper cells fromperipheralblood	blood
24	chr5:60565200-60566000	Enhancers	Primary T cells from cord blood	blood
25	chr5:60565200-60566200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
26	chr5:60565400-60565600	Enhancers	HUVEC	blood vessel
27	chr5:60565400-60566000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
28	chr5:60565400-60566400	Enhancers	Stomach Mucosa	stomach

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