Variant report

Variant	rs8177890
Chromosome Location	chr16:81122904-81122905
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr16:81122870-81123490	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:81113713..81115509-chr16:81122432..81124488,3	K562	blood:
2	chr16:81119022..81121896-chr16:81122018..81124342,2	K562	blood:
3	chr16:81104177..81106310-chr16:81122487..81125294,2	K562	blood:
4	chr16:81116747..81118686-chr16:81121475..81123225,2	K562	blood:
5	chr16:81109459..81113813-chr16:81119137..81125158,9	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000260643	TF binding region
ENSG00000260643	Chromatin interaction
ENSG00000166455	Chromatin interaction
ENSG00000261838	Chromatin interaction
ENSG00000245059	Chromatin interaction

Extended variants
information (count: 118 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:107)

rs_ID	r²[population]
rs10400995	1.00[AMR][1000 genomes]
rs10400998	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10468366	1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12102418	1.00[AMR][1000 genomes]
rs12456	1.00[JPT][hapmap]
rs13332317	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13332530	1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13333261	1.00[AMR][1000 genomes]
rs16954525	1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16954528	1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16954562	0.80[YRI][hapmap];1.00[AMR][1000 genomes]
rs16954688	1.00[ASN][1000 genomes]
rs1869347	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2549901	1.00[ASN][1000 genomes]
rs28469459	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28472979	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28586999	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28709530	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55648346	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55664147	0.84[ASN][1000 genomes]
rs55894951	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56117555	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56333013	0.84[ASN][1000 genomes]
rs56378007	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56758545	0.84[ASN][1000 genomes]
rs56838270	0.84[ASN][1000 genomes]
rs57435835	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57687812	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57830624	0.84[ASN][1000 genomes]
rs57906343	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58418167	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60573779	1.00[ASN][1000 genomes]
rs61435632	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61438195	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61495305	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6564815	0.84[ASN][1000 genomes]
rs6564816	0.84[ASN][1000 genomes]
rs7185983	1.00[AMR][1000 genomes]
rs7187063	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs7194808	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7195463	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7197019	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7198494	1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs72827277	1.00[ASN][1000 genomes]
rs73597275	1.00[ASN][1000 genomes]
rs73599301	1.00[ASN][1000 genomes]
rs74028898	0.84[ASN][1000 genomes]
rs74028901	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs74028902	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs74030503	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs74030505	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8045625	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs8050338	1.00[AMR][1000 genomes]
rs8061024	1.00[JPT][hapmap];0.82[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8061203	1.00[ASN][1000 genomes]
rs8062432	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8177846	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8177847	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8177854	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8177857	1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8177858	1.00[JPT][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8177859	1.00[JPT][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8177860	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8177868	1.00[JPT][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8177869	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8177870	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8177871	1.00[JPT][hapmap];0.90[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8177872	1.00[JPT][hapmap];0.90[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8177873	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8177874	1.00[JPT][hapmap];0.82[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8177877	1.00[JPT][hapmap];0.82[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8177879	1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8177881	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8177893	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8177895	1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8177905	1.00[JPT][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8177907	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8177908	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8177910	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8177913	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8177914	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8177915	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8177917	0.82[JPT][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8177922	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8177923	1.00[AMR][1000 genomes]
rs8177924	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8177926	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8177927	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8177928	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8177929	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8177930	0.92[ASN][1000 genomes]
rs8177932	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8177933	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8177934	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8177935	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8177936	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs8177937	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs8177941	1.00[JPT][hapmap];0.82[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8177949	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9930623	1.00[AMR][1000 genomes]
rs9932197	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9934205	0.85[ASN][1000 genomes]
rs9934220	1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9935938	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9937014	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9937594	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9937996	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948534	chr16:80867635-81160492	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv1064164	chr16:80918138-81126967	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv542991	chr16:80918138-81126967	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
4	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
5	nsv532597	chr16:81009718-81388348	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer 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	56 gene(s)	inside rSNPs	diseases
6	nsv427984	chr16:81026691-81320341	Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription 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	49 gene(s)	inside rSNPs	diseases
7	nsv1062724	chr16:81052312-81137007	Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
8	esv2422360	chr16:81066033-81180727	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
9	esv2751615	chr16:81093099-81307599	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
10	nsv530715	chr16:81117168-81252875	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
11	nsv907005	chr16:81121353-81194912	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81111400-81128200	Weak transcription	Brain Cingulate Gyrus	brain
2	chr16:81111400-81128400	Weak transcription	Aorta	Aorta
3	chr16:81111400-81128800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr16:81111400-81128800	Weak transcription	Psoas Muscle	Psoas
5	chr16:81111400-81128800	Weak transcription	NHDF-Ad	bronchial
6	chr16:81111400-81129000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr16:81111400-81129000	Weak transcription	Gastric	stomach
8	chr16:81111400-81129200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr16:81111600-81123000	Weak transcription	Primary T cells from cord blood	blood
10	chr16:81111600-81123000	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr16:81111600-81123000	Weak transcription	HMEC	breast
12	chr16:81111600-81123200	Weak transcription	Duodenum Mucosa	Duodenum
13	chr16:81111600-81123200	Weak transcription	Placenta	Placenta
14	chr16:81111600-81125600	Weak transcription	GM12878-XiMat	blood
15	chr16:81111600-81127800	Weak transcription	Brain Substantia Nigra	brain
16	chr16:81111600-81128000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr16:81111600-81128200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr16:81111600-81128200	Weak transcription	Brain Hippocampus Middle	brain
19	chr16:81111600-81128200	Weak transcription	NH-A	brain
20	chr16:81111600-81128400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr16:81111600-81128400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr16:81111600-81128400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr16:81111600-81128400	Weak transcription	Brain Anterior Caudate	brain
24	chr16:81111600-81128400	Weak transcription	Fetal Muscle Trunk	muscle
25	chr16:81111600-81128400	Weak transcription	HSMM	muscle
26	chr16:81111600-81128600	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr16:81111600-81128600	Weak transcription	Fetal Kidney	kidney
28	chr16:81111600-81128600	Weak transcription	Pancreas	Pancrea
29	chr16:81111600-81128800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr16:81111600-81128800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr16:81111600-81128800	Weak transcription	Primary B cells from peripheral blood	blood
32	chr16:81111600-81128800	Weak transcription	Primary T cells fromperipheralblood	blood
33	chr16:81111600-81128800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr16:81111600-81128800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr16:81111600-81128800	Weak transcription	Colon Smooth Muscle	Colon
36	chr16:81111600-81128800	Weak transcription	Fetal Brain Female	brain
37	chr16:81111600-81128800	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr16:81111600-81128800	Weak transcription	Right Atrium	heart
39	chr16:81111600-81128800	Weak transcription	Stomach Smooth Muscle	stomach
40	chr16:81111600-81128800	Weak transcription	HSMMtube	muscle
41	chr16:81111600-81128800	Weak transcription	Osteobl	bone
42	chr16:81111600-81129000	Weak transcription	Brain Germinal Matrix	brain
43	chr16:81111600-81129000	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr16:81111600-81129200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr16:81111600-81129200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr16:81111600-81129200	Weak transcription	Left Ventricle	heart
47	chr16:81111800-81123000	Weak transcription	Primary hematopoietic stem cells	blood
48	chr16:81111800-81128200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr16:81111800-81128200	Weak transcription	Primary B cells from cord blood	blood
50	chr16:81111800-81128800	Weak transcription	Fetal Brain Male	brain

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