Variant report

Variant	rs7630
Chromosome Location	chr16:81424117-81424118
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:81409476..81411284-chr16:81422287..81424681,2	MCF-7	breast:
2	chr16:81418335..81421743-chr16:81423347..81426141,3	MCF-7	breast:
3	chr16:81417073..81419356-chr16:81422898..81425873,2	K562	blood:
4	chr16:81422912..81425576-chr16:81496658..81498919,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GAN-1	chr16:81421430-81424413	NONHSAT143948

Variant related genes	Relation type
ENSG00000273048	Chromatin interaction
ENSG00000272923	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11647874	0.82[CEU][hapmap]
rs17188615	0.82[CEU][hapmap]
rs182559	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1895539	0.82[CEU][hapmap]
rs192835	0.98[EUR][1000 genomes]
rs1946285	0.83[CEU][hapmap]
rs1981884	0.82[CEU][hapmap]
rs2216771	0.83[CEU][hapmap]
rs2446084	0.88[CEU][hapmap];0.82[JPT][hapmap];0.81[EUR][1000 genomes]
rs2550746	0.87[EUR][1000 genomes]
rs2550749	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2608557	0.83[EUR][1000 genomes]
rs2608559	0.85[EUR][1000 genomes]
rs2608560	0.85[EUR][1000 genomes]
rs2608562	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2615701	0.91[CEU][hapmap];0.82[JPT][hapmap]
rs310022	0.91[EUR][1000 genomes]
rs310024	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs310025	0.95[CEU][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs310032	0.82[CEU][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs310035	0.82[CEU][hapmap]
rs3127538	0.87[EUR][1000 genomes]
rs4889307	0.82[CEU][hapmap]
rs7191409	0.82[CEU][hapmap]
rs9928509	0.89[AMR][1000 genomes];0.99[EUR][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	nsv532569	chr16:80980356-81700149	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv1058519	chr16:81177767-81735333	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
3	nsv948448	chr16:81198147-81906766	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	37 gene(s)	inside rSNPs	diseases
4	nsv1061359	chr16:81349826-81471867	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
5	nsv542992	chr16:81349826-81471867	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81384200-81434600	Weak transcription	NHLF	lung
2	chr16:81384200-81437400	Weak transcription	Fetal Brain Male	brain
3	chr16:81386400-81424200	Weak transcription	Psoas Muscle	Psoas
4	chr16:81387000-81428600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr16:81392000-81428400	Weak transcription	Fetal Heart	heart
6	chr16:81397400-81426400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr16:81399200-81431000	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr16:81400000-81427200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr16:81400000-81434600	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr16:81411200-81424400	Weak transcription	Colonic Mucosa	Colon
11	chr16:81411200-81428400	Weak transcription	GM12878-XiMat	blood
12	chr16:81411400-81428000	Weak transcription	Spleen	Spleen
13	chr16:81411400-81428200	Weak transcription	Stomach Mucosa	stomach
14	chr16:81411400-81429200	Weak transcription	Primary B cells from peripheral blood	blood
15	chr16:81411400-81429600	Weak transcription	HSMM	muscle
16	chr16:81411600-81428600	Weak transcription	Fetal Kidney	kidney
17	chr16:81411600-81437400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr16:81411800-81424400	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr16:81411800-81424600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr16:81411800-81428200	Weak transcription	Fetal Brain Female	brain
21	chr16:81411800-81428200	Weak transcription	Osteobl	bone
22	chr16:81411800-81428600	Weak transcription	HSMMtube	muscle
23	chr16:81411800-81431000	Weak transcription	K562	blood
24	chr16:81411800-81432400	Weak transcription	A549	lung
25	chr16:81412000-81424400	Weak transcription	Aorta	Aorta
26	chr16:81412000-81424600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr16:81412000-81424600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr16:81412000-81426200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr16:81412200-81424400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr16:81412200-81425400	Weak transcription	NH-A	brain
31	chr16:81412200-81425600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr16:81412200-81434400	Weak transcription	Hela-S3	cervix
33	chr16:81412400-81425200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr16:81412400-81425600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr16:81412600-81426600	Weak transcription	Primary monocytes fromperipheralblood	blood
36	chr16:81412600-81427000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr16:81412600-81427200	Weak transcription	NHDF-Ad	bronchial
38	chr16:81413000-81428400	Weak transcription	Primary T cells fromperipheralblood	blood
39	chr16:81413400-81425800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr16:81413400-81434200	Weak transcription	HMEC	breast
41	chr16:81414000-81426600	Weak transcription	Primary T helper cells PMA-I stimulated	--
42	chr16:81415200-81427600	Weak transcription	Primary B cells from cord blood	blood
43	chr16:81415600-81437000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr16:81417800-81424800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr16:81417800-81426600	Weak transcription	Brain Angular Gyrus	brain
46	chr16:81418000-81426000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr16:81418200-81427200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr16:81418200-81427600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr16:81418200-81437200	Weak transcription	Colon Smooth Muscle	Colon
50	chr16:81418400-81424400	Weak transcription	HUES48 Cell Line	embryonic stem cell

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