Variant report

Variant	rs1394628
Chromosome Location	chr5:118560895-118560896
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:118559801..118561992-chr5:118562252..118565088,2	K562	blood:
2	chr5:118560242..118562661-chr5:118578972..118580567,2	MCF-7	breast:
3	chr5:118559931..118561681-chr5:118573436..118576186,2	K562	blood:
4	chr5:118551365..118552971-chr5:118559798..118561455,2	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10035593	0.95[EUR][1000 genomes]
rs10037918	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10051559	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs10072072	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs10075997	0.98[EUR][1000 genomes]
rs11241487	1.00[CEU][hapmap]
rs1504974	0.90[EUR][1000 genomes]
rs1504975	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs1504976	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs1553542	0.89[EUR][1000 genomes]
rs1857771	0.90[EUR][1000 genomes]
rs1910788	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2271059	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs2404397	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2896839	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2896840	1.00[CEU][hapmap];0.90[YRI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35818538	0.84[AMR][1000 genomes]
rs3797337	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs3992620	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs59560401	0.83[AFR][1000 genomes]
rs6880106	1.00[CEU][hapmap]
rs73242994	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73242996	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7736744	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9327092	1.00[CEU][hapmap];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv462426	chr5:118465249-118621672	Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv599564	chr5:118465249-118621672	ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv1016595	chr5:118468658-118621672	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv1019788	chr5:118488501-118607405	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv537882	chr5:118488501-118607405	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv1034616	chr5:118506348-118600391	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
7	nsv1031914	chr5:118516878-118589497	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
8	esv2757136	chr5:118555863-118667748	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
9	esv2759374	chr5:118555863-118667748	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118485800-118572200	Weak transcription	Small Intestine	intestine
2	chr5:118486000-118588600	Weak transcription	Right Ventricle	heart
3	chr5:118489800-118591200	Weak transcription	Colonic Mucosa	Colon
4	chr5:118498000-118584200	Weak transcription	Spleen	Spleen
5	chr5:118503800-118585800	Weak transcription	NH-A	brain
6	chr5:118507800-118580200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr5:118514400-118589000	Weak transcription	Pancreas	Pancrea
8	chr5:118514400-118591400	Weak transcription	Esophagus	oesophagus
9	chr5:118521200-118571000	Weak transcription	HMEC	breast
10	chr5:118524200-118570800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr5:118524400-118571000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr5:118524600-118561200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr5:118524600-118584200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr5:118534600-118574200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr5:118535000-118579600	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr5:118535000-118584800	Weak transcription	Brain Cingulate Gyrus	brain
17	chr5:118535000-118587400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr5:118535000-118588200	Weak transcription	Lung	lung
19	chr5:118535000-118589000	Weak transcription	Aorta	Aorta
20	chr5:118535200-118575200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr5:118535400-118569400	Weak transcription	Thymus	Thymus
22	chr5:118536400-118569800	Weak transcription	Brain Angular Gyrus	brain
23	chr5:118536400-118580000	Weak transcription	Fetal Brain Male	brain
24	chr5:118538200-118562000	Weak transcription	Brain Germinal Matrix	brain
25	chr5:118538200-118569000	Weak transcription	Ovary	ovary
26	chr5:118538200-118569400	Weak transcription	Fetal Brain Female	brain
27	chr5:118538200-118581800	Weak transcription	Brain Hippocampus Middle	brain
28	chr5:118538200-118586600	Weak transcription	Brain Substantia Nigra	brain
29	chr5:118538200-118590600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr5:118539200-118580800	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr5:118539200-118581600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr5:118539200-118590000	Weak transcription	Fetal Kidney	kidney
33	chr5:118539200-118591000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr5:118539400-118570600	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr5:118540000-118569800	Weak transcription	Fetal Lung	lung
36	chr5:118540200-118563200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr5:118540200-118569600	Weak transcription	Fetal Muscle Trunk	muscle
38	chr5:118540600-118569000	Weak transcription	Fetal Muscle Leg	muscle
39	chr5:118540600-118569200	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr5:118540600-118569800	Weak transcription	Left Ventricle	heart
41	chr5:118540600-118569800	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr5:118540800-118569600	Weak transcription	Primary neutrophils fromperipheralblood	blood
43	chr5:118544600-118591400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr5:118546200-118569600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr5:118547400-118573000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr5:118549000-118571000	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr5:118549200-118562200	Weak transcription	Psoas Muscle	Psoas
48	chr5:118549400-118562200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr5:118550000-118569000	Weak transcription	Fetal Heart	heart
50	chr5:118550000-118588800	Strong transcription	Monocytes-CD14+_RO01746	blood

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