Variant report

Variant	rs17673147
Chromosome Location	chr5:126673342-126673343
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:126672674..126675418-chr5:126679915..126681787,2	K562	blood:
2	chr5:126673266..126674884-chr5:126706701..126708447,2	K562	blood:
3	chr5:126668142..126670884-chr5:126672209..126674055,2	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11746512	1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17165041	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[TSI][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17673170	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17763370	1.00[YRI][hapmap]
rs17839696	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3863175	1.00[YRI][hapmap]
rs55918025	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56096254	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56144110	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72786494	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72786500	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72788505	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72788513	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024265	chr5:126213004-126691163	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv1033607	chr5:126385181-127304459	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv1019821	chr5:126658200-126934917	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv537894	chr5:126658200-126934917	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 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	chr5:126648000-126674800	Weak transcription	Fetal Muscle Trunk	muscle
2	chr5:126656600-126673400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr5:126663200-126673600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr5:126663400-126690200	Weak transcription	Fetal Brain Male	brain
5	chr5:126666200-126679000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr5:126666600-126673400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr5:126666800-126689200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr5:126668000-126687200	Weak transcription	HSMM	muscle
9	chr5:126669200-126674800	Weak transcription	Fetal Muscle Leg	muscle
10	chr5:126669400-126675000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr5:126670400-126673400	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr5:126671000-126674800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr5:126671600-126673400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr5:126672400-126675200	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr5:126672600-126673400	Enhancers	Brain Hippocampus Middle	brain
16	chr5:126672600-126673800	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr5:126672600-126675600	Enhancers	Brain Angular Gyrus	brain
18	chr5:126672600-126675800	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr5:126672800-126674200	Enhancers	Brain Cingulate Gyrus	brain
20	chr5:126672800-126674400	Enhancers	Brain Substantia Nigra	brain
21	chr5:126672800-126674600	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr5:126672800-126675000	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr5:126672800-126675000	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr5:126672800-126675800	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr5:126673000-126673600	Weak transcription	Fetal Brain Female	brain
26	chr5:126673000-126675800	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr5:126673200-126673600	Enhancers	H9 Cell Line	embryonic stem cell
28	chr5:126673200-126673600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr5:126673200-126673800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
30	chr5:126673200-126673800	Enhancers	HSMMtube	muscle
31	chr5:126673200-126674600	Enhancers	Brain Anterior Caudate	brain
32	chr5:126673200-126675000	Enhancers	Brain Inferior Temporal Lobe	brain

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