Variant report

Variant	rs6594975
Chromosome Location	chr5:115987188-115987189
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:115981549..115984671-chr5:115985029..115987618,3	K562	blood:
2	chr5:115985452..115987393-chr5:115988593..115990486,2	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10041042	1.00[JPT][hapmap]
rs12189229	0.84[ASN][1000 genomes]
rs13185771	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs163809	1.00[JPT][hapmap]
rs6594974	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs978493	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[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	esv2763490	chr5:115918339-116138525	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv830456	chr5:115969066-116170718	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv527974	chr5:115987168-116303678	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:115965000-115987200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr5:115981800-115987200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:115982400-115987200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:115983800-115987200	Weak transcription	HepG2	liver
5	chr5:115984000-115987200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr5:115985600-115987600	Enhancers	Brain Anterior Caudate	brain
7	chr5:115985600-115988000	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr5:115985600-115991600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr5:115985800-115989800	Enhancers	Fetal Brain Male	brain
10	chr5:115986000-115988000	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr5:115986200-115987600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr5:115986200-115987600	Enhancers	Brain Hippocampus Middle	brain
13	chr5:115986200-115987800	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr5:115986200-115987800	Enhancers	Brain Cingulate Gyrus	brain
15	chr5:115986200-115987800	Enhancers	Brain Substantia Nigra	brain
16	chr5:115986400-115987600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
17	chr5:115986400-115987600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr5:115986400-115987600	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr5:115986400-115988000	Enhancers	GM12878-XiMat	blood
20	chr5:115986600-115987400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr5:115986800-115987600	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr5:115986800-115987600	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr5:115986800-115988000	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr5:115986800-115988000	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr5:115986800-115988000	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr5:115986800-115988000	Enhancers	Brain Angular Gyrus	brain
27	chr5:115987000-115987600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr5:115987000-115988000	Enhancers	H1 Cell Line	embryonic stem cell
29	chr5:115987000-115989000	Enhancers	Fetal Muscle Leg	muscle
30	chr5:115987000-115989400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr5:115987000-115989800	Enhancers	H9 Cell Line	embryonic stem cell
32	chr5:115987000-115991400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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