Variant report

Variant	rs6504311
Chromosome Location	chr17:63454735-63454736
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	chr17:63443363..63445985-chr17:63454090..63456727,2	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12603289	0.83[EUR][1000 genomes]
rs12603313	0.83[EUR][1000 genomes]
rs57335864	0.89[EUR][1000 genomes]
rs72631311	1.00[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs72631312	0.98[EUR][1000 genomes]
rs72631313	1.00[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs8066556	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8072680	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9889663	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9898410	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1056195	chr17:63439524-63512389	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 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	chr17:63449000-63455000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr17:63450200-63456000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr17:63451800-63457400	Enhancers	Fetal Thymus	thymus
4	chr17:63452000-63456600	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr17:63452000-63456600	Enhancers	Thymus	Thymus
6	chr17:63452200-63455800	Weak transcription	Right Atrium	heart
7	chr17:63452200-63456400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr17:63452800-63454800	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr17:63452800-63455000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr17:63452800-63455000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr17:63452800-63455000	Weak transcription	Lung	lung
12	chr17:63452800-63455200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr17:63452800-63459600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr17:63453000-63454800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr17:63453000-63455000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr17:63453000-63455400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr17:63453000-63455400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr17:63453200-63454800	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr17:63453200-63454800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr17:63453200-63455200	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr17:63453200-63459400	Weak transcription	Fetal Lung	lung
22	chr17:63453400-63455200	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr17:63453400-63455800	Weak transcription	Brain Anterior Caudate	brain
24	chr17:63453600-63457400	Weak transcription	Psoas Muscle	Psoas
25	chr17:63453800-63455000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr17:63453800-63455000	Weak transcription	Fetal Heart	heart
27	chr17:63453800-63456200	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr17:63454000-63455800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr17:63454000-63456000	Weak transcription	Colonic Mucosa	Colon
30	chr17:63454600-63455200	Enhancers	iPS-18 Cell Line	embryonic stem cell

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