Variant report

Variant	rs72787129
Chromosome Location	chr16:75407682-75407683
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:75404999..75407765-chr16:75409843..75412468,3	MCF-7	breast:
2	chr16:75283450..75285905-chr16:75405908..75408281,2	MCF-7	breast:
3	chr16:75400892..75404468-chr16:75404804..75409122,4	MCF-7	breast:
4	chr16:75298028..75301243-chr16:75403988..75407902,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000050820	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs17605723	0.90[EUR][1000 genomes]
rs17605814	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17606084	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17674257	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs187435	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2454860	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs247429	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs247441	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs247451	0.80[EUR][1000 genomes]
rs3094015	0.81[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs37586	0.80[EUR][1000 genomes]
rs37590	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs391192	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4243113	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs451589	0.82[EUR][1000 genomes]
rs469176	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs58518445	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6564246	0.90[EUR][1000 genomes]
rs66885758	0.93[EUR][1000 genomes]
rs66886787	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs67836283	0.82[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs7185976	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7192448	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7193299	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7199718	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7202997	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72787117	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72787126	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72787135	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72787147	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72787159	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72787163	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72787169	0.89[EUR][1000 genomes]
rs72787179	0.80[EUR][1000 genomes]
rs72787185	0.83[EUR][1000 genomes]
rs72787193	0.83[EUR][1000 genomes]
rs72804118	0.89[EUR][1000 genomes]
rs72804120	0.90[EUR][1000 genomes]
rs72804135	0.92[EUR][1000 genomes]
rs72804140	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72804141	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72804154	0.93[EUR][1000 genomes]
rs72804155	0.93[EUR][1000 genomes]
rs72804160	0.93[EUR][1000 genomes]
rs72804161	0.92[EUR][1000 genomes]
rs72804162	0.92[EUR][1000 genomes]
rs8044442	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs8055093	0.87[AMR][1000 genomes];0.89[EUR][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	nsv532560	chr16:74692406-75411912	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
2	nsv916502	chr16:74845880-75732365	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	131 gene(s)	inside rSNPs	diseases
3	nsv931939	chr16:75261354-75765025	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
4	esv2762265	chr16:75368897-75415866	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1065995	chr16:75373756-75626027	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
6	esv2422358	chr16:75381762-75456763	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv1063718	chr16:75395969-75608071	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
8	nsv525232	chr16:75402361-75439132	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv525466	chr16:75402361-75439132	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:75338800-75426400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr16:75339400-75411800	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr16:75354800-75413600	Weak transcription	Fetal Thymus	thymus
4	chr16:75358400-75421400	Weak transcription	K562	blood
5	chr16:75368600-75411400	Weak transcription	GM12878-XiMat	blood
6	chr16:75368600-75412800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr16:75368800-75409800	Weak transcription	Thymus	Thymus
8	chr16:75368800-75413200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr16:75375800-75408400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr16:75376600-75410600	Weak transcription	Duodenum Mucosa	Duodenum
11	chr16:75376600-75426800	Weak transcription	Brain Germinal Matrix	brain
12	chr16:75377000-75411600	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr16:75377000-75411800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr16:75377000-75424400	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr16:75377000-75426400	Weak transcription	Gastric	stomach
16	chr16:75377200-75424000	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr16:75377400-75426400	Weak transcription	Pancreas	Pancrea
18	chr16:75377600-75410200	Weak transcription	Fetal Muscle Trunk	muscle
19	chr16:75377600-75411800	Weak transcription	Left Ventricle	heart
20	chr16:75378000-75410200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr16:75378000-75411000	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr16:75378400-75410400	Weak transcription	Fetal Kidney	kidney
23	chr16:75378600-75409600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr16:75380200-75411400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr16:75380200-75413200	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr16:75381400-75409400	Weak transcription	Placenta	Placenta
27	chr16:75385800-75409600	Weak transcription	NHEK	skin
28	chr16:75388400-75409800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr16:75390600-75410800	Weak transcription	Small Intestine	intestine
30	chr16:75391800-75411800	Weak transcription	Rectal Smooth Muscle	rectum
31	chr16:75392200-75411400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr16:75392400-75422000	Weak transcription	Aorta	Aorta
33	chr16:75393600-75410800	Weak transcription	Brain Hippocampus Middle	brain
34	chr16:75395600-75412400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr16:75396200-75421200	Weak transcription	Lung	lung
36	chr16:75396400-75411600	Weak transcription	Adipose Nuclei	Adipose
37	chr16:75396800-75409200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr16:75397000-75409800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr16:75397400-75413200	Weak transcription	Primary T helper cells PMA-I stimulated	--
40	chr16:75397800-75411600	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr16:75399200-75411200	Weak transcription	Brain Cingulate Gyrus	brain
42	chr16:75399600-75410800	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr16:75399600-75410800	Weak transcription	Ovary	ovary
44	chr16:75399600-75426800	Weak transcription	Esophagus	oesophagus
45	chr16:75399800-75409800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr16:75399800-75411200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr16:75400400-75410200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr16:75400400-75410400	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr16:75400600-75409600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr16:75400800-75409600	Weak transcription	Primary T cells from cord blood	blood

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