Variant report

Variant	rs72772090
Chromosome Location	chr5:96036311-96036312
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOS	chr5:96036098-96036314	MCF10A-Er-Src	breast:	n/a	n/a
2	GTF2F1	chr5:96036297-96036599	Hela-S3	cervix:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:96034944..96036646-chr5:96036794..96040300,3	MCF-7	breast:
2	chr5:95296602..95298951-chr5:96035182..96037883,2	K562	blood:
3	chr5:96022353..96024017-chr5:96034115..96036407,2	K562	blood:
4	chr5:96000243..96001872-chr5:96034533..96037143,2	MCF-7	breast:
5	chr5:96035607..96037886-chr5:96049256..96051520,2	K562	blood:
6	chr5:96035534..96040371-chr5:96075768..96079687,8	K562	blood:
7	chr5:96034750..96038584-chr5:96076223..96079664,4	K562	blood:

No data

Variant related genes	Relation type
CAST	TF binding region
ENSG00000153113	Chromatin interaction
ENSG00000118985	Chromatin interaction
ENSG00000251314	Chromatin interaction
ENSG00000249180	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10447215	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10515244	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11738135	1.00[EUR][1000 genomes]
rs11739280	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11744642	0.89[AMR][1000 genomes]
rs11745122	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11750399	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11750400	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11750510	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12188168	0.99[EUR][1000 genomes]
rs1559085	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17082200	1.00[EUR][1000 genomes]
rs17086588	0.99[EUR][1000 genomes]
rs17400685	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17400741	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17479052	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34942552	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs55695458	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56116814	0.99[EUR][1000 genomes]
rs56122780	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs56257788	1.00[EUR][1000 genomes]
rs6864233	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72772091	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72772092	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72772095	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72773919	1.00[AFR][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	nsv1024964	chr5:95742124-96065492	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv537811	chr5:95742124-96065492	Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
3	nsv1015173	chr5:95987366-96153392	Genic enhancers Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
4	nsv432755	chr5:95987984-96657483	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:95999400-96038000	Weak transcription	Fetal Stomach	stomach
2	chr5:95999600-96037800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr5:95999600-96038000	Weak transcription	Fetal Lung	lung
4	chr5:96000800-96037600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr5:96001600-96037000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr5:96002400-96037600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr5:96002400-96038200	Weak transcription	Esophagus	oesophagus
8	chr5:96004800-96036600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr5:96005000-96038000	Weak transcription	Ovary	ovary
10	chr5:96005000-96038200	Weak transcription	Gastric	stomach
11	chr5:96009200-96037600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr5:96013000-96037800	Weak transcription	Primary hematopoietic stem cells	blood
13	chr5:96013800-96037600	Weak transcription	Rectal Smooth Muscle	rectum
14	chr5:96016800-96038200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr5:96017000-96038000	Weak transcription	Colon Smooth Muscle	Colon
16	chr5:96018800-96038200	Weak transcription	Colonic Mucosa	Colon
17	chr5:96018800-96038200	Weak transcription	Spleen	Spleen
18	chr5:96023000-96038400	Weak transcription	Small Intestine	intestine
19	chr5:96023200-96037600	Weak transcription	Thymus	Thymus
20	chr5:96023600-96036800	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr5:96023800-96037000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr5:96023800-96037600	Weak transcription	Fetal Kidney	kidney
23	chr5:96023800-96038000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr5:96024000-96038200	Weak transcription	GM12878-XiMat	blood
25	chr5:96025600-96037200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr5:96026200-96037600	Weak transcription	Psoas Muscle	Psoas
27	chr5:96028400-96037600	Weak transcription	Right Atrium	heart
28	chr5:96028400-96038200	Weak transcription	Lung	lung
29	chr5:96028400-96038600	Weak transcription	Aorta	Aorta
30	chr5:96030400-96036600	Strong transcription	Primary monocytes fromperipheralblood	blood
31	chr5:96031200-96038000	Weak transcription	Brain Anterior Caudate	brain
32	chr5:96031600-96036600	Strong transcription	Duodenum Mucosa	Duodenum
33	chr5:96032800-96036600	Strong transcription	Rectal Mucosa Donor 31	rectum
34	chr5:96033400-96037000	Strong transcription	Adipose Nuclei	Adipose
35	chr5:96033400-96037600	Weak transcription	Fetal Muscle Leg	muscle
36	chr5:96033600-96036800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr5:96033600-96037200	Weak transcription	Stomach Smooth Muscle	stomach
38	chr5:96033600-96038000	Weak transcription	Primary neutrophils fromperipheralblood	blood
39	chr5:96033600-96038000	Weak transcription	Liver	Liver
40	chr5:96033600-96038000	Weak transcription	Fetal Muscle Trunk	muscle
41	chr5:96033800-96037400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr5:96034200-96037600	Weak transcription	Primary T cells fromperipheralblood	blood
43	chr5:96034400-96037600	Weak transcription	Primary T helper cells fromperipheralblood	blood
44	chr5:96034400-96038000	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr5:96034600-96036600	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr5:96034800-96037000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr5:96034800-96037800	Strong transcription	Rectal Mucosa Donor 29	rectum
48	chr5:96034800-96038000	Enhancers	Skeletal Muscle Female	skeletal muscle
49	chr5:96035000-96036400	Enhancers	iPS-18 Cell Line	embryonic stem cell
50	chr5:96035000-96036800	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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