Variant report

Variant	rs16856663
Chromosome Location	chr1:181010442-181010443
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:180990073..180993369-chr1:181008815..181014232,9	MCF-7	breast:
2	chr1:181006288..181011234-chr1:181054894..181059610,7	MCF-7	breast:
3	chr1:181001684..181003948-chr1:181009601..181013491,4	K562	blood:
4	chr1:181009038..181012023-chr1:181029706..181032224,2	K562	blood:
5	chr1:181010195..181011191-chr1:181111405..181112409,3	MCF-7	breast:
6	chr1:180997971..181011022-chr1:181054648..181063248,33	K562	blood:
7	chr1:180999745..181016101-chr1:181055432..181063450,33	K562	blood:
8	chr1:181004593..181007804-chr1:181008315..181013552,8	K562	blood:

No data

Variant related genes	Relation type
ENSG00000153029	Chromatin interaction
ENSG00000162783	Chromatin interaction
ENSG00000135823	Chromatin interaction
ENSG00000272198	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10218681	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12134601	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16856661	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34260849	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3806283	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3806284	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3845422	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3892173	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55764324	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55903939	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56030303	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56089565	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6658363	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7535177	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][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	nsv1014404	chr1:180770155-181090200	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
2	esv3342865	chr1:180933678-181018012	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	esv3383831	chr1:180937224-181029755	Strong transcription Active TSS Weak transcription Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv1011081	chr1:180973159-181135953	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	95 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:181002600-181012200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:181003800-181012200	Weak transcription	Placenta	Placenta
3	chr1:181004000-181010600	Weak transcription	HMEC	breast
4	chr1:181004000-181012000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr1:181004000-181012000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr1:181004000-181013600	Weak transcription	Psoas Muscle	Psoas
7	chr1:181004000-181015600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr1:181004000-181025400	Weak transcription	Fetal Stomach	stomach
9	chr1:181004000-181025800	Weak transcription	Fetal Muscle Leg	muscle
10	chr1:181004000-181026200	Weak transcription	Brain Anterior Caudate	brain
11	chr1:181004200-181010600	Weak transcription	NHEK	skin
12	chr1:181004200-181012200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr1:181005000-181011800	Weak transcription	Primary hematopoietic stem cells	blood
14	chr1:181005200-181011800	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr1:181005200-181012200	Weak transcription	Lung	lung
16	chr1:181005400-181012000	Weak transcription	Adipose Nuclei	Adipose
17	chr1:181005400-181012200	Weak transcription	Colonic Mucosa	Colon
18	chr1:181005600-181012200	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr1:181005600-181013800	Weak transcription	Pancreas	Pancrea
20	chr1:181005600-181025800	Weak transcription	Right Ventricle	heart
21	chr1:181005600-181026000	Weak transcription	Rectal Smooth Muscle	rectum
22	chr1:181005600-181026400	Weak transcription	Colon Smooth Muscle	Colon
23	chr1:181005600-181028200	Weak transcription	Gastric	stomach
24	chr1:181005600-181028600	Weak transcription	Ovary	ovary
25	chr1:181005800-181010600	Weak transcription	Spleen	Spleen
26	chr1:181005800-181010800	Weak transcription	Aorta	Aorta
27	chr1:181005800-181012000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr1:181005800-181012200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr1:181005800-181012200	Weak transcription	Esophagus	oesophagus
30	chr1:181005800-181012200	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr1:181006000-181010600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr1:181006000-181012200	Weak transcription	Thymus	Thymus
33	chr1:181006200-181012200	Weak transcription	Small Intestine	intestine
34	chr1:181006400-181012000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr1:181006400-181012000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr1:181006800-181012000	Weak transcription	Primary B cells from cord blood	blood
37	chr1:181006800-181012000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr1:181006800-181012200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr1:181007200-181012000	Weak transcription	Primary T cells from cord blood	blood
40	chr1:181007200-181026600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr1:181007800-181010600	Weak transcription	Primary neutrophils fromperipheralblood	blood
42	chr1:181008000-181010600	Strong transcription	Primary B cells from peripheral blood	blood
43	chr1:181008000-181012000	Weak transcription	K562	blood
44	chr1:181008400-181010800	Genic enhancers	GM12878-XiMat	blood
45	chr1:181008600-181010600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr1:181008600-181011800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr1:181008600-181011800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr1:181008600-181011800	Weak transcription	Hela-S3	cervix
49	chr1:181008600-181012000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr1:181008600-181012000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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