Variant report

Variant	rs17165305
Chromosome Location	chr5:126181894-126181895
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:126181496..126183544-chr5:126306554..126308992,2	K562	blood:
2	chr5:126181775..126183467-chr5:126371071..126372584,2	K562	blood:
3	chr5:126180168..126183460-chr5:126365910..126369057,3	K562	blood:
4	chr5:126180771..126183524-chr5:126185712..126188380,2	K562	blood:
5	chr5:126181767..126182715-chr5:126649392..126649947,2	K562	blood:
6	chr5:126181847..126184918-chr5:126362668..126365476,3	K562	blood:

Variant related genes	Relation type
ENSG00000173926	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10478756	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12514703	0.84[ASN][1000 genomes]
rs12518228	1.00[JPT][hapmap]
rs12656537	1.00[JPT][hapmap]
rs3749830	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3805737	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3812062	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs55637078	0.85[ASN][1000 genomes]
rs55784400	0.85[ASN][1000 genomes]
rs57472160	0.92[ASN][1000 genomes]
rs60493556	0.84[ASN][1000 genomes]
rs72780283	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72780284	0.85[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	nsv949054	chr5:125918148-126254480	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	nsv534292	chr5:125993451-126259315	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats 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 miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126146000-126183200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr5:126146000-126183600	Weak transcription	Left Ventricle	heart
3	chr5:126148200-126182400	Weak transcription	HSMMtube	muscle
4	chr5:126148200-126193200	Weak transcription	Brain Angular Gyrus	brain
5	chr5:126158000-126204600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr5:126162800-126182000	Weak transcription	Brain Anterior Caudate	brain
7	chr5:126163800-126182200	Weak transcription	Colonic Mucosa	Colon
8	chr5:126163800-126182600	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr5:126163800-126193200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr5:126164000-126182400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr5:126169600-126182600	Weak transcription	Placenta	Placenta
12	chr5:126169800-126184800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr5:126170200-126182200	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr5:126170200-126183200	Weak transcription	Lung	lung
15	chr5:126170200-126184800	Weak transcription	Spleen	Spleen
16	chr5:126170200-126186800	Weak transcription	NHLF	lung
17	chr5:126171200-126187000	Weak transcription	NH-A	brain
18	chr5:126171800-126182400	Weak transcription	Fetal Brain Female	brain
19	chr5:126171800-126184000	Weak transcription	Brain Germinal Matrix	brain
20	chr5:126172200-126182800	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr5:126172200-126183600	Weak transcription	Liver	Liver
22	chr5:126172600-126187000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr5:126175200-126182200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr5:126175200-126187400	Weak transcription	Dnd41	blood
25	chr5:126175200-126189400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr5:126175400-126182200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr5:126175400-126183200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr5:126177000-126182600	Weak transcription	Right Atrium	heart
29	chr5:126180600-126182400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr5:126180600-126182600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr5:126181200-126182000	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr5:126181200-126182000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
33	chr5:126181200-126182000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
34	chr5:126181200-126182200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr5:126181200-126182400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
36	chr5:126181200-126182400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
37	chr5:126181200-126182400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr5:126181200-126182400	Active TSS	Rectal Mucosa Donor 29	rectum
39	chr5:126181200-126182600	Enhancers	Primary B cells from cord blood	blood
40	chr5:126181200-126182600	Enhancers	Primary hematopoietic stem cells	blood
41	chr5:126181200-126182600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
42	chr5:126181200-126182600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
43	chr5:126181200-126182800	Enhancers	Primary B cells from peripheral blood	blood
44	chr5:126181200-126182800	Enhancers	Primary T cells fromperipheralblood	blood
45	chr5:126181200-126182800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
46	chr5:126181200-126182800	Enhancers	Primary T helper cells fromperipheralblood	blood
47	chr5:126181200-126184000	Enhancers	Primary T cells from cord blood	blood
48	chr5:126181200-126184000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
49	chr5:126181200-126184400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr5:126181200-126184600	Enhancers	Fetal Thymus	thymus

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