Variant report

Variant	rs9930919
Chromosome Location	chr16:47706738-47706739
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	chr16:47178385..47180317-chr16:47705518..47707688,2	K562	blood:
2	chr16:47705945..47707735-chr16:47749048..47750835,2	K562	blood:

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs13329876	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[YRI][hapmap];1.00[AFR][1000 genomes]
rs13336864	1.00[AFR][1000 genomes]
rs13337909	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs13338192	1.00[AFR][1000 genomes]
rs13339329	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[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]
rs9931999	1.00[YRI][hapmap];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[YRI][hapmap];1.00[AFR][1000 genomes]
rs9935386	1.00[AFR][1000 genomes]
rs9935939	1.00[AFR][1000 genomes]
rs9936017	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:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:47626600-47724600	Weak transcription	Small Intestine	intestine
2	chr16:47661200-47709200	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr16:47666200-47729800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr16:47671000-47710800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr16:47678200-47735000	Weak transcription	Fetal Brain Male	brain
6	chr16:47678400-47722800	Weak transcription	NHDF-Ad	bronchial
7	chr16:47678400-47730800	Weak transcription	NH-A	brain
8	chr16:47678600-47733200	Weak transcription	NHLF	lung
9	chr16:47680600-47711600	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr16:47681400-47710800	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr16:47683400-47710800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr16:47685000-47717400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr16:47685600-47730600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr16:47688200-47710800	Weak transcription	Fetal Thymus	thymus
15	chr16:47688200-47727000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr16:47688200-47727200	Weak transcription	Hela-S3	cervix
17	chr16:47689600-47711600	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr16:47692200-47709000	Weak transcription	Pancreas	Pancrea
19	chr16:47693000-47710600	Weak transcription	Fetal Heart	heart
20	chr16:47693600-47709400	Weak transcription	Rectal Smooth Muscle	rectum
21	chr16:47695200-47709000	Weak transcription	Right Ventricle	heart
22	chr16:47695200-47709200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr16:47695200-47709400	Weak transcription	Psoas Muscle	Psoas
24	chr16:47695200-47710600	Weak transcription	Brain Angular Gyrus	brain
25	chr16:47695400-47708600	Weak transcription	Gastric	stomach
26	chr16:47695400-47710200	Weak transcription	Brain Hippocampus Middle	brain
27	chr16:47695600-47709400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr16:47695800-47709200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr16:47695800-47709200	Weak transcription	Fetal Brain Female	brain
30	chr16:47695800-47709400	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr16:47695800-47710400	Weak transcription	Colon Smooth Muscle	Colon
32	chr16:47695800-47727200	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr16:47695800-47735000	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr16:47696000-47708000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr16:47696000-47708000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr16:47696000-47708600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr16:47696000-47708600	Weak transcription	Spleen	Spleen
38	chr16:47696000-47709000	Weak transcription	Colonic Mucosa	Colon
39	chr16:47696000-47709000	Weak transcription	Ovary	ovary
40	chr16:47696000-47709600	Weak transcription	HSMM	muscle
41	chr16:47696000-47710400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr16:47696000-47710400	Weak transcription	Brain Substantia Nigra	brain
43	chr16:47696000-47727800	Weak transcription	Brain Cingulate Gyrus	brain
44	chr16:47696000-47730200	Weak transcription	NHEK	skin
45	chr16:47696000-47737800	Weak transcription	HMEC	breast
46	chr16:47696200-47708400	Weak transcription	GM12878-XiMat	blood
47	chr16:47696200-47708800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr16:47696200-47717000	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr16:47696400-47710200	Weak transcription	Osteobl	bone
50	chr16:47696400-47710600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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