Variant report

Variant	rs7196773
Chromosome Location	chr16:70491792-70491793
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:70412581..70417154-chr16:70486443..70491865,11	MCF-7	breast:
2	chr16:70477724..70480616-chr16:70490024..70492664,2	K562	blood:

Variant related genes	Relation type
ENSG00000240043	Chromatin interaction
ENSG00000260111	Chromatin interaction
ENSG00000200153	Chromatin interaction

Extended variants
information (count: 96 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:92)

rs_ID	r²[population]
rs11863394	1.00[EUR][1000 genomes]
rs13330945	1.00[EUR][1000 genomes]
rs13331220	1.00[AMR][1000 genomes]
rs13334577	0.91[AMR][1000 genomes]
rs13337689	1.00[EUR][1000 genomes]
rs13338441	1.00[EUR][1000 genomes]
rs13339216	1.00[AMR][1000 genomes]
rs13339561	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13339593	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13339643	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16970226	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs16970240	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs16970243	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs16970253	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs16970259	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs16970260	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs17878662	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17879275	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17881316	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17885165	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17886111	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28419202	1.00[AMR][1000 genomes]
rs28438025	1.00[AMR][1000 genomes]
rs28475204	1.00[AMR][1000 genomes]
rs28619389	1.00[AMR][1000 genomes]
rs28777081	1.00[AMR][1000 genomes]
rs55667445	1.00[AMR][1000 genomes]
rs55885171	1.00[AMR][1000 genomes]
rs55926204	0.84[AMR][1000 genomes]
rs56189591	1.00[AMR][1000 genomes]
rs57451547	1.00[AMR][1000 genomes]
rs58142695	1.00[AMR][1000 genomes]
rs58144908	1.00[AMR][1000 genomes]
rs59158714	1.00[AMR][1000 genomes]
rs59460917	1.00[AMR][1000 genomes]
rs60575688	1.00[EUR][1000 genomes]
rs60757048	1.00[AMR][1000 genomes]
rs61641432	1.00[AMR][1000 genomes]
rs6499318	1.00[AMR][1000 genomes]
rs7184876	1.00[AMR][1000 genomes]
rs7185011	0.91[AMR][1000 genomes]
rs7186436	1.00[AMR][1000 genomes]
rs7188297	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7188474	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7188808	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7191191	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs7192936	1.00[EUR][1000 genomes]
rs7193228	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs7199312	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7200586	1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7200978	1.00[AMR][1000 genomes]
rs7202133	1.00[EUR][1000 genomes]
rs73573163	1.00[AMR][1000 genomes]
rs73573175	1.00[AMR][1000 genomes]
rs73578815	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73578819	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8047189	1.00[EUR][1000 genomes]
rs8047593	1.00[AMR][1000 genomes]
rs8049929	1.00[AMR][1000 genomes]
rs8050767	0.91[AMR][1000 genomes]
rs8051473	1.00[AMR][1000 genomes]
rs8051618	1.00[AMR][1000 genomes]
rs8057327	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs8057732	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs8058754	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs8059200	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8061243	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8061431	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8062414	0.93[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8062794	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9302615	1.00[AMR][1000 genomes]
rs9921410	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9921696	1.00[EUR][1000 genomes]
rs9922969	1.00[EUR][1000 genomes]
rs9923656	1.00[EUR][1000 genomes]
rs9925510	1.00[EUR][1000 genomes]
rs9926355	1.00[AMR][1000 genomes]
rs9926435	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9928617	1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs9928808	1.00[AMR][1000 genomes]
rs9929182	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9929354	1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9929882	1.00[AMR][1000 genomes]
rs9932065	1.00[AMR][1000 genomes]
rs9932939	1.00[AMR][1000 genomes]
rs9933022	1.00[AMR][1000 genomes]
rs9933510	1.00[EUR][1000 genomes]
rs9936085	1.00[AMR][1000 genomes]
rs9937769	1.00[AMR][1000 genomes]
rs9940353	1.00[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9940592	1.00[EUR][1000 genomes]
rs9940654	1.00[EUR][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	nsv482577	chr16:70329048-70516069	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
2	nsv833272	chr16:70369769-70569723	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
3	esv1815154	chr16:70467819-70515355	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	esv2830027	chr16:70473934-70558039	Genic enhancers Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70489200-70497200	Weak transcription	Aorta	Aorta
2	chr16:70489200-70506000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr16:70489200-70508800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr16:70489400-70492000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr16:70489400-70492000	Enhancers	Fetal Intestine Large	intestine
6	chr16:70489400-70492000	Enhancers	HepG2	liver
7	chr16:70489400-70494400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr16:70489400-70494400	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr16:70489400-70494400	Weak transcription	Spleen	Spleen
10	chr16:70489400-70494600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr16:70489400-70494600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr16:70489400-70494600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr16:70489400-70494600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr16:70489400-70494600	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr16:70489400-70494600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr16:70489400-70494600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr16:70489400-70494600	Weak transcription	Adipose Nuclei	Adipose
18	chr16:70489400-70494600	Weak transcription	Fetal Brain Female	brain
19	chr16:70489400-70494600	Weak transcription	Fetal Heart	heart
20	chr16:70489400-70494600	Weak transcription	Fetal Stomach	stomach
21	chr16:70489400-70494600	Weak transcription	HUVEC	blood vessel
22	chr16:70489400-70494600	Weak transcription	Osteobl	bone
23	chr16:70489400-70494800	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr16:70489400-70494800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr16:70489400-70494800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr16:70489400-70494800	Weak transcription	Fetal Muscle Trunk	muscle
27	chr16:70489400-70494800	Weak transcription	HSMMtube	muscle
28	chr16:70489400-70495000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr16:70489400-70495000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr16:70489400-70495000	Weak transcription	Left Ventricle	heart
31	chr16:70489400-70495400	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr16:70489400-70495800	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr16:70489400-70497000	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr16:70489400-70497000	Weak transcription	Brain Anterior Caudate	brain
35	chr16:70489400-70497000	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr16:70489400-70497000	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr16:70489400-70497000	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr16:70489400-70497000	Weak transcription	Thymus	Thymus
39	chr16:70489400-70497000	Weak transcription	NHLF	lung
40	chr16:70489400-70497200	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr16:70489400-70497200	Weak transcription	Primary neutrophils fromperipheralblood	blood
42	chr16:70489400-70497200	Weak transcription	Primary B cells from cord blood	blood
43	chr16:70489400-70497200	Weak transcription	Brain Angular Gyrus	brain
44	chr16:70489400-70497200	Weak transcription	Brain Cingulate Gyrus	brain
45	chr16:70489400-70497200	Weak transcription	Brain Hippocampus Middle	brain
46	chr16:70489400-70497200	Weak transcription	Colonic Mucosa	Colon
47	chr16:70489400-70497200	Weak transcription	Colon Smooth Muscle	Colon
48	chr16:70489400-70497200	Weak transcription	Gastric	stomach
49	chr16:70489400-70497200	Weak transcription	Rectal Smooth Muscle	rectum
50	chr16:70489400-70497200	Weak transcription	Sigmoid Colon	Sigmoid Colon

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