Variant report

Variant	rs17165103
Chromosome Location	chr5:126631736-126631737
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:126626127..126628791-chr5:126631175..126633789,2	K562	blood:

Variant related genes	Relation type
ENSG00000145794	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10519929	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10519930	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12109330	0.89[EUR][1000 genomes]
rs17165043	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs17165060	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17165082	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17165102	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17165105	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17165119	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs17673224	0.84[ASN][1000 genomes]
rs17839697	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs2032833	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs2194080	0.90[YRI][hapmap]
rs2898042	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];1.00[ASN][1000 genomes]
rs56084567	1.00[ASN][1000 genomes]
rs56169866	1.00[ASN][1000 genomes]
rs57623356	1.00[ASN][1000 genomes]
rs73785574	1.00[ASN][1000 genomes]
rs73785576	1.00[ASN][1000 genomes]
rs73785580	0.85[ASN][1000 genomes]
rs7702573	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];1.00[ASN][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	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

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126627400-126634400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr5:126627600-126635000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr5:126628200-126633800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr5:126628600-126633800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:126629000-126634000	Enhancers	Brain Substantia Nigra	brain
6	chr5:126629400-126634000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr5:126629600-126633600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr5:126629600-126633800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr5:126629600-126638400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr5:126629800-126633800	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr5:126629800-126633800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr5:126629800-126635200	Weak transcription	HSMMtube	muscle
13	chr5:126629800-126635400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr5:126630000-126632600	Enhancers	Brain Anterior Caudate	brain
15	chr5:126630000-126634000	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr5:126630000-126634000	Weak transcription	Fetal Muscle Leg	muscle
17	chr5:126630200-126631800	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr5:126630200-126632000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr5:126630200-126633200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr5:126630200-126633400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr5:126630200-126633600	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr5:126630200-126634200	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr5:126630400-126632800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr5:126630400-126639000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr5:126630600-126631800	Enhancers	Muscle Satellite Cultured Cells	--
26	chr5:126630600-126632400	Enhancers	HUVEC	blood vessel
27	chr5:126630600-126633400	Enhancers	HSMM	muscle
28	chr5:126630600-126634000	Enhancers	Brain Hippocampus Middle	brain
29	chr5:126630800-126631800	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr5:126631000-126631800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr5:126631000-126632600	Enhancers	NH-A	brain
32	chr5:126631000-126638800	Enhancers	Brain Angular Gyrus	brain
33	chr5:126631200-126631800	Enhancers	Brain Cingulate Gyrus	brain
34	chr5:126631200-126632400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr5:126631400-126634000	Enhancers	Brain Inferior Temporal Lobe	brain
36	chr5:126631600-126632000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr5:126631600-126632200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr5:126631600-126632600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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