Variant report

Variant	rs11864984
Chromosome Location	chr16:81044630-81044631
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr16:81044409-81044903	K562	blood:	n/a	n/a
2	ZNF263	chr16:81044459-81044777	HEK293-T-REx	kidney:	n/a	n/a
3	POLR2A	chr16:81044351-81044989	K562	blood:	n/a	n/a
4	POLR2A	chr16:81044468-81044936	K562	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:81043779..81046119-chr16:81060874..81062593,2	MCF-7	breast:
2	chr16:81038105..81044923-chr16:81066300..81070952,14	MCF-7	breast:
3	chr16:81037151..81044642-chr16:81065528..81070966,16	K562	blood:
4	chr16:81042328..81045873-chr16:81053654..81056834,3	MCF-7	breast:
5	chr16:81023827..81025532-chr16:81042311..81045114,2	K562	blood:
6	chr16:81043453..81045106-chr16:81060725..81063706,2	MCF-7	breast:

No data

Variant related genes	Relation type
CMC2	TF binding region
ENSG00000260213	Chromatin interaction
ENSG00000166454	Chromatin interaction
ENSG00000103121	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10492891	0.89[ASN][1000 genomes]
rs11150336	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11862612	1.00[YRI][hapmap]
rs16954366	0.96[ASN][1000 genomes]
rs2011142	0.93[ASN][1000 genomes]
rs2194323	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28688510	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2970080	0.96[ASN][1000 genomes]
rs3759933	0.98[ASN][1000 genomes]
rs7201499	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9921348	0.96[ASN][1000 genomes]
rs9929815	0.88[ASN][1000 genomes]
rs9931063	0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	nsv1065258	chr16:80887483-81081768	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv1058045	chr16:80918138-81048242	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
4	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
5	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
6	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
7	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
8	nsv573338	chr16:81020393-81106944	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
9	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

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81041600-81047600	Weak transcription	Spleen	Spleen
2	chr16:81041800-81053600	Weak transcription	Gastric	stomach
3	chr16:81041800-81069000	Weak transcription	Ovary	ovary
4	chr16:81041800-81069000	Weak transcription	Small Intestine	intestine
5	chr16:81042000-81045600	Weak transcription	Liver	Liver
6	chr16:81042000-81046200	Weak transcription	Brain Substantia Nigra	brain
7	chr16:81042000-81046200	Weak transcription	Right Atrium	heart
8	chr16:81042000-81047000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr16:81042000-81047400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr16:81042000-81047800	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr16:81042000-81047800	Weak transcription	Aorta	Aorta
12	chr16:81042000-81047800	Weak transcription	Right Ventricle	heart
13	chr16:81042000-81048000	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr16:81042000-81048200	Weak transcription	Brain Cingulate Gyrus	brain
15	chr16:81042000-81048200	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr16:81042000-81053000	Weak transcription	Brain Angular Gyrus	brain
17	chr16:81042000-81053600	Weak transcription	HSMMtube	muscle
18	chr16:81042000-81054400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr16:81042000-81054800	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr16:81042000-81057600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr16:81042000-81058400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr16:81042000-81069000	Weak transcription	Esophagus	oesophagus
23	chr16:81042000-81069000	Weak transcription	Pancreas	Pancrea
24	chr16:81042000-81069600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr16:81042200-81044800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr16:81042200-81044800	Weak transcription	Fetal Intestine Large	intestine
27	chr16:81042200-81045400	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr16:81042200-81045400	Weak transcription	Primary hematopoietic stem cells	blood
29	chr16:81042200-81045600	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr16:81042200-81046200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr16:81042200-81046600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr16:81042200-81046600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr16:81042200-81046600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr16:81042200-81046600	Weak transcription	Fetal Kidney	kidney
35	chr16:81042200-81046600	Weak transcription	NH-A	brain
36	chr16:81042200-81046800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr16:81042200-81046800	Weak transcription	Primary T cells from cord blood	blood
38	chr16:81042200-81046800	Weak transcription	Adipose Nuclei	Adipose
39	chr16:81042200-81046800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr16:81042200-81046800	Weak transcription	Fetal Intestine Small	intestine
41	chr16:81042200-81046800	Weak transcription	Fetal Stomach	stomach
42	chr16:81042200-81046800	Weak transcription	Left Ventricle	heart
43	chr16:81042200-81047000	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr16:81042200-81047000	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr16:81042200-81047000	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr16:81042200-81047000	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr16:81042200-81047400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr16:81042200-81047600	Weak transcription	Fetal Brain Female	brain
49	chr16:81042200-81047800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr16:81042200-81047800	Weak transcription	Primary B cells from peripheral blood	blood

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