Variant report

Variant	rs7193221
Chromosome Location	chr16:69848721-69848722
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:69838826..69841714-chr16:69847060..69849740,2	MCF-7	breast:
2	chr16:69830820..69833460-chr16:69847790..69850124,2	MCF-7	breast:
3	chr16:69848424..69850083-chr16:69853504..69855055,2	K562	blood:
4	chr16:69846629..69849489-chr16:70284143..70286922,2	K562	blood:

Variant related genes	Relation type
ENSG00000223496	Chromatin interaction
ENSG00000198373	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs11075738	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11075739	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11641899	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11643817	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12447095	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12447914	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2173714	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34378064	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3790085	0.91[CHB][hapmap];0.95[CHD][hapmap];0.83[JPT][hapmap]
rs3790086	0.91[CHB][hapmap];0.83[JPT][hapmap]
rs4275849	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.88[MKK][hapmap];0.98[TSI][hapmap];0.91[YRI][hapmap];0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4341733	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4608327	0.92[YRI][hapmap]
rs4985374	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4985418	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.89[TSI][hapmap];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4985445	0.92[ASN][1000 genomes]
rs4985446	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60941540	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62051384	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62051387	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62051389	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6499255	0.88[ASW][hapmap];0.97[LWK][hapmap];0.88[MKK][hapmap];0.91[YRI][hapmap];0.89[AFR][1000 genomes]
rs6499257	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.88[TSI][hapmap];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6499260	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.88[TSI][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs68039170	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7194806	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7196917	0.88[CEU][hapmap]
rs7200005	0.88[CEU][hapmap];0.84[TSI][hapmap]
rs7202223	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7206585	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.88[TSI][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8044920	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8052428	0.95[CEU][hapmap];0.83[EUR][1000 genomes]
rs8057620	0.83[CHD][hapmap]
rs8059645	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.88[TSI][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8063219	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.88[MKK][hapmap];0.98[TSI][hapmap];0.91[YRI][hapmap];0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9630631	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv906823	chr16:69711533-69959223	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats 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	54 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:69797600-69853400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr16:69807200-69852400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr16:69807200-69852800	Weak transcription	Hela-S3	cervix
4	chr16:69807200-69854800	Weak transcription	Psoas Muscle	Psoas
5	chr16:69817800-69854600	Weak transcription	HMEC	breast
6	chr16:69822400-69854800	Weak transcription	Stomach Mucosa	stomach
7	chr16:69823800-69874800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr16:69824200-69852400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr16:69830200-69856600	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr16:69830600-69857600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr16:69830600-69864200	Weak transcription	Colon Smooth Muscle	Colon
12	chr16:69830600-69867000	Weak transcription	Right Ventricle	heart
13	chr16:69831000-69852400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr16:69831000-69852400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr16:69831000-69854800	Weak transcription	Aorta	Aorta
16	chr16:69831000-69856400	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr16:69832400-69858400	Strong transcription	Primary neutrophils fromperipheralblood	blood
18	chr16:69833200-69854800	Weak transcription	NH-A	brain
19	chr16:69833400-69852400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr16:69833400-69854600	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr16:69833400-69854600	Weak transcription	NHLF	lung
22	chr16:69833800-69854400	Weak transcription	Osteobl	bone
23	chr16:69833800-69854600	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr16:69833800-69854800	Weak transcription	HSMM	muscle
25	chr16:69833800-69854800	Weak transcription	HSMMtube	muscle
26	chr16:69833800-69857600	Weak transcription	Small Intestine	intestine
27	chr16:69833800-69864400	Weak transcription	Rectal Smooth Muscle	rectum
28	chr16:69833800-69874600	Weak transcription	Dnd41	blood
29	chr16:69833800-69875600	Weak transcription	NHEK	skin
30	chr16:69834000-69850400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr16:69834000-69852400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr16:69834000-69852400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr16:69834000-69852400	Weak transcription	Fetal Brain Female	brain
34	chr16:69834000-69854400	Weak transcription	Fetal Kidney	kidney
35	chr16:69834000-69855000	Weak transcription	Brain Germinal Matrix	brain
36	chr16:69834000-69910600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr16:69834200-69851600	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr16:69834200-69851600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr16:69834200-69852400	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr16:69834200-69857800	Weak transcription	Left Ventricle	heart
41	chr16:69834200-69892200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr16:69834400-69854800	Weak transcription	Brain Angular Gyrus	brain
43	chr16:69834400-69854800	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr16:69835600-69852400	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr16:69836400-69867400	Weak transcription	Colonic Mucosa	Colon
46	chr16:69836600-69852600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr16:69836800-69851400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr16:69836800-69864200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr16:69836800-69864400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr16:69837000-69905600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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