Variant report

Variant	rs9931999
Chromosome Location	chr16:47683305-47683306
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUND	chr16:47683182-47683460	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:47674595..47678731-chr16:47680937..47684112,3	K562	blood:
2	chr16:47680750..47683336-chr16:47685961..47688381,2	K562	blood:

Variant related genes	Relation type
PHKB	TF binding region

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs12102280	1.00[AFR][1000 genomes]
rs12103136	1.00[AFR][1000 genomes]
rs13329876	1.00[LWK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs13331276	1.00[AFR][1000 genomes]
rs13332687	1.00[AFR][1000 genomes]
rs13332822	1.00[AFR][1000 genomes]
rs13334553	1.00[AFR][1000 genomes]
rs13334954	1.00[AFR][1000 genomes]
rs13335589	1.00[AFR][1000 genomes]
rs13336440	1.00[LWK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs13336864	1.00[AFR][1000 genomes]
rs13337909	1.00[LWK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs13338192	1.00[AFR][1000 genomes]
rs13339329	1.00[LWK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs28404995	1.00[AFR][1000 genomes]
rs28405972	1.00[AFR][1000 genomes]
rs28430442	1.00[AFR][1000 genomes]
rs28441575	1.00[AFR][1000 genomes]
rs28446873	1.00[AFR][1000 genomes]
rs28474983	1.00[AFR][1000 genomes]
rs28533453	1.00[AFR][1000 genomes]
rs28663455	1.00[AFR][1000 genomes]
rs28674891	1.00[AFR][1000 genomes]
rs28691569	1.00[AFR][1000 genomes]
rs28709022	1.00[AFR][1000 genomes]
rs28768157	1.00[AFR][1000 genomes]
rs28811125	1.00[AFR][1000 genomes]
rs34514482	1.00[AFR][1000 genomes]
rs9921060	1.00[AFR][1000 genomes]
rs9921690	1.00[AFR][1000 genomes]
rs9922236	1.00[AFR][1000 genomes]
rs9922531	1.00[LWK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs9922863	1.00[AFR][1000 genomes]
rs9922954	1.00[AFR][1000 genomes]
rs9924052	1.00[AFR][1000 genomes]
rs9924144	1.00[AFR][1000 genomes]
rs9924420	1.00[AFR][1000 genomes]
rs9925039	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs9925483	1.00[AFR][1000 genomes]
rs9925499	1.00[AFR][1000 genomes]
rs9928023	1.00[AFR][1000 genomes]
rs9928782	1.00[AFR][1000 genomes]
rs9930629	1.00[AFR][1000 genomes]
rs9930919	1.00[AFR][1000 genomes]
rs9932380	0.87[AFR][1000 genomes]
rs9934103	1.00[AFR][1000 genomes]
rs9934849	1.00[AFR][1000 genomes]
rs9935072	1.00[LWK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs9935386	1.00[AFR][1000 genomes]
rs9935939	1.00[AFR][1000 genomes]
rs9936017	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs9936168	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs9936755	1.00[AFR][1000 genomes]
rs9937013	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs9938457	1.00[AFR][1000 genomes]
rs9938504	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs9940019	1.00[AFR][1000 genomes]
rs9940111	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1795199	chr16:47111119-47732476	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv520355	chr16:47424828-48164777	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv525976	chr16:47583872-48035026	Strong transcription Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv1056126	chr16:47658705-47738655	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:47609600-47694400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr16:47626600-47724600	Weak transcription	Small Intestine	intestine
3	chr16:47627000-47685000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr16:47635200-47684200	Weak transcription	Ovary	ovary
5	chr16:47647600-47684200	Weak transcription	Fetal Muscle Leg	muscle
6	chr16:47661200-47709200	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr16:47661400-47694600	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr16:47661400-47697800	Weak transcription	Stomach Mucosa	stomach
9	chr16:47666200-47729800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr16:47666400-47684200	Weak transcription	Colonic Mucosa	Colon
11	chr16:47668800-47687200	Weak transcription	A549	lung
12	chr16:47668800-47691800	Weak transcription	Thymus	Thymus
13	chr16:47670600-47691800	Weak transcription	Pancreas	Pancrea
14	chr16:47671000-47686600	Weak transcription	Gastric	stomach
15	chr16:47671000-47710800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr16:47671400-47685200	Weak transcription	Lung	lung
17	chr16:47671400-47691800	Weak transcription	Spleen	Spleen
18	chr16:47671400-47695000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr16:47671400-47698800	Weak transcription	Fetal Intestine Small	intestine
20	chr16:47671600-47687200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr16:47673800-47686400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr16:47677000-47684200	Weak transcription	Rectal Smooth Muscle	rectum
23	chr16:47677000-47684200	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr16:47677400-47687000	Weak transcription	Fetal Thymus	thymus
25	chr16:47677400-47694800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr16:47677800-47683600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr16:47678000-47685000	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr16:47678000-47691800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr16:47678000-47694600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr16:47678000-47694600	Weak transcription	Brain Cingulate Gyrus	brain
31	chr16:47678000-47694800	Weak transcription	Brain Angular Gyrus	brain
32	chr16:47678200-47684400	Weak transcription	HepG2	liver
33	chr16:47678200-47685000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr16:47678200-47691800	Weak transcription	Brain Anterior Caudate	brain
35	chr16:47678200-47735000	Weak transcription	Fetal Brain Male	brain
36	chr16:47678400-47683800	Weak transcription	Duodenum Mucosa	Duodenum
37	chr16:47678400-47684200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr16:47678400-47684200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr16:47678400-47684200	Weak transcription	Left Ventricle	heart
40	chr16:47678400-47684200	Weak transcription	Psoas Muscle	Psoas
41	chr16:47678400-47686000	Weak transcription	GM12878-XiMat	blood
42	chr16:47678400-47686400	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr16:47678400-47686600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr16:47678400-47686600	Weak transcription	Aorta	Aorta
45	chr16:47678400-47687600	Weak transcription	Hela-S3	cervix
46	chr16:47678400-47691000	Weak transcription	Brain Germinal Matrix	brain
47	chr16:47678400-47694600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr16:47678400-47694600	Weak transcription	Brain Substantia Nigra	brain
49	chr16:47678400-47694600	Weak transcription	NHEK	skin
50	chr16:47678400-47694600	Weak transcription	Osteobl	bone

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