Variant report

Variant	rs9938594
Chromosome Location	chr16:48319905-48319906
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	chr16:48319533..48322012-chr16:48323897..48325836,2	K562	blood:
2	chr16:48313437..48315370-chr16:48318626..48321162,2	MCF-7	breast:

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs12102896	1.00[AFR][1000 genomes]
rs13332870	1.00[AMR][1000 genomes]
rs13335175	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13336203	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13336441	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13336832	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13337923	1.00[AMR][1000 genomes]
rs28361908	1.00[AMR][1000 genomes]
rs28379458	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28473019	1.00[AMR][1000 genomes]
rs28539217	1.00[AMR][1000 genomes]
rs28599555	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28661941	1.00[AMR][1000 genomes]
rs28848294	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9889104	1.00[AMR][1000 genomes]
rs9922477	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs9926437	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9926749	1.00[AMR][1000 genomes]
rs9927124	1.00[AMR][1000 genomes]
rs9928527	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs9929780	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9931267	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs9931866	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs9932677	1.00[AMR][1000 genomes]
rs9933958	1.00[AMR][1000 genomes]
rs9934175	1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9934459	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9934918	1.00[AMR][1000 genomes]
rs9936494	1.00[AMR][1000 genomes]
rs9936636	1.00[AMR][1000 genomes]
rs9936892	1.00[AMR][1000 genomes]
rs9938115	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9938350	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs9940237	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9941354	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1061316	chr16:48264175-48594219	Weak transcription Strong transcription Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers 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	38 gene(s)	inside rSNPs	diseases
2	esv1821072	chr16:48268318-48504364	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv833219	chr16:48290595-48459301	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv1061708	chr16:48304343-48482594	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv542917	chr16:48304343-48482594	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:48279600-48320200	Weak transcription	Spleen	Spleen
2	chr16:48287400-48320200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr16:48289400-48320400	Weak transcription	Esophagus	oesophagus
4	chr16:48293800-48320400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr16:48294800-48320400	Weak transcription	Lung	lung
6	chr16:48297200-48323200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr16:48297600-48321000	Weak transcription	Fetal Brain Male	brain
8	chr16:48297800-48320800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr16:48297800-48320800	Weak transcription	Brain Germinal Matrix	brain
10	chr16:48297800-48320800	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr16:48297800-48320800	Weak transcription	Small Intestine	intestine
12	chr16:48299000-48320400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr16:48300200-48320200	Weak transcription	Fetal Stomach	stomach
14	chr16:48302800-48321000	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr16:48305200-48328600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr16:48305400-48320400	Weak transcription	Stomach Smooth Muscle	stomach
17	chr16:48307200-48320400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr16:48307200-48321000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr16:48310400-48320200	Weak transcription	Aorta	Aorta
20	chr16:48311400-48320200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr16:48311800-48320200	Weak transcription	Colonic Mucosa	Colon
22	chr16:48311800-48320200	Weak transcription	NHLF	lung
23	chr16:48311800-48320400	Weak transcription	NHDF-Ad	bronchial
24	chr16:48311800-48320800	Weak transcription	HSMMtube	muscle
25	chr16:48312800-48320200	Weak transcription	Fetal Thymus	thymus
26	chr16:48313600-48320400	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr16:48313600-48320400	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr16:48313600-48320400	Weak transcription	Left Ventricle	heart
29	chr16:48313600-48320400	Weak transcription	Thymus	Thymus
30	chr16:48313600-48321000	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr16:48313600-48321000	Weak transcription	Pancreas	Pancrea
32	chr16:48313600-48321000	Weak transcription	Psoas Muscle	Psoas
33	chr16:48313600-48331800	Strong transcription	Liver	Liver
34	chr16:48313600-48337200	Weak transcription	Gastric	stomach
35	chr16:48314000-48320600	Weak transcription	HUVEC	blood vessel
36	chr16:48314000-48321000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr16:48314600-48321000	Weak transcription	NH-A	brain
38	chr16:48314800-48320400	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr16:48314800-48320400	Weak transcription	A549	lung
40	chr16:48314800-48320800	Weak transcription	HMEC	breast
41	chr16:48315200-48320200	Weak transcription	Primary neutrophils fromperipheralblood	blood
42	chr16:48315200-48320400	Weak transcription	Fetal Kidney	kidney
43	chr16:48315200-48321000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr16:48316600-48320200	Strong transcription	Primary monocytes fromperipheralblood	blood
45	chr16:48316600-48320400	Strong transcription	Primary B cells from cord blood	blood
46	chr16:48316600-48320400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr16:48316600-48325400	Strong transcription	Rectal Mucosa Donor 29	rectum
48	chr16:48317200-48320200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
49	chr16:48317200-48320400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr16:48317200-48320400	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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