Variant report

Variant	rs9928988
Chromosome Location	chr16:48302659-48302660
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:48278282..48280138-chr16:48301407..48304287,3	K562	blood:

Variant related genes	Relation type
ENSG00000102910	Chromatin interaction
ENSG00000121270	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11859367	1.00[AMR][1000 genomes]
rs13333269	1.00[AMR][1000 genomes]
rs28644283	1.00[AMR][1000 genomes]
rs59953801	1.00[EUR][1000 genomes]
rs7199413	1.00[MEX][hapmap];1.00[AMR][1000 genomes]
rs74017944	1.00[EUR][1000 genomes]
rs8057474	1.00[EUR][1000 genomes]
rs9923500	0.83[AMR][1000 genomes]
rs9936391	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	nsv1059259	chr16:48113396-48304404	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv542916	chr16:48113396-48304404	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:48279400-48312600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr16:48279600-48311200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr16:48279600-48320200	Weak transcription	Spleen	Spleen
4	chr16:48280400-48309400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr16:48280800-48304000	Weak transcription	Hela-S3	cervix
6	chr16:48281400-48313200	Weak transcription	Right Atrium	heart
7	chr16:48281800-48313200	Weak transcription	Psoas Muscle	Psoas
8	chr16:48285200-48309600	Strong transcription	HepG2	liver
9	chr16:48285800-48306800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr16:48285800-48309600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr16:48286000-48313200	Strong transcription	Primary T helper cells fromperipheralblood	blood
12	chr16:48287400-48320200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr16:48289400-48309400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr16:48289400-48313200	Weak transcription	Gastric	stomach
15	chr16:48289400-48320400	Weak transcription	Esophagus	oesophagus
16	chr16:48289800-48306800	Weak transcription	Aorta	Aorta
17	chr16:48290600-48313800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr16:48290800-48303800	Weak transcription	Stomach Mucosa	stomach
19	chr16:48290800-48306000	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr16:48291600-48305200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr16:48291600-48309400	Strong transcription	Fetal Intestine Large	intestine
22	chr16:48292200-48303800	Weak transcription	Fetal Intestine Small	intestine
23	chr16:48292200-48306800	Weak transcription	Right Ventricle	heart
24	chr16:48292200-48313200	Weak transcription	Pancreas	Pancrea
25	chr16:48293800-48309000	Strong transcription	Liver	Liver
26	chr16:48293800-48320400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr16:48294000-48305800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr16:48294800-48320400	Weak transcription	Lung	lung
29	chr16:48297200-48323200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr16:48297600-48303400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr16:48297600-48303800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr16:48297600-48303800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr16:48297600-48303800	Weak transcription	NH-A	brain
34	chr16:48297600-48304000	Weak transcription	Brain Angular Gyrus	brain
35	chr16:48297600-48304000	Weak transcription	Fetal Kidney	kidney
36	chr16:48297600-48304000	Weak transcription	Rectal Smooth Muscle	rectum
37	chr16:48297600-48304000	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr16:48297600-48304000	Weak transcription	HUVEC	blood vessel
39	chr16:48297600-48304000	Weak transcription	NHLF	lung
40	chr16:48297600-48305000	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr16:48297600-48305800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr16:48297600-48305800	Weak transcription	Colon Smooth Muscle	Colon
43	chr16:48297600-48311000	Weak transcription	Colonic Mucosa	Colon
44	chr16:48297600-48313200	Weak transcription	K562	blood
45	chr16:48297600-48318600	Strong transcription	Primary B cells from peripheral blood	blood
46	chr16:48297600-48319800	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr16:48297600-48321000	Weak transcription	Fetal Brain Male	brain
48	chr16:48297800-48302800	Weak transcription	Osteobl	bone
49	chr16:48297800-48303000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr16:48297800-48303400	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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