Variant report

Variant	rs72897806
Chromosome Location	chr3:28281816-28281817
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:28270683..28272455-chr3:28281452..28283015,2	MCF-7	breast:
2	chr3:28277439..28279511-chr3:28280296..28282426,2	MCF-7	breast:
3	chr3:28279814..28284603-chr3:28388127..28392296,9	K562	blood:
4	chr3:28270292..28273085-chr3:28279670..28282869,3	MCF-7	breast:
5	chr3:28279814..28285757-chr3:28388127..28392208,14	K562	blood:
6	chr3:28263497..28265020-chr3:28280684..28282522,2	K562	blood:
7	chr3:28281377..28282969-chr3:28334471..28336913,2	K562	blood:
8	chr3:28279618..28281224-chr3:28281299..28282942,2	MCF-7	breast:
9	chr3:28279881..28282644-chr3:28339325..28342183,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000206559	Chromatin interaction
ENSG00000163512	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs58333674	1.00[AMR][1000 genomes]
rs60375581	1.00[AMR][1000 genomes]
rs6801397	1.00[AMR][1000 genomes]
rs72895990	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72897817	1.00[AMR][1000 genomes]
rs72897819	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72897831	1.00[AMR][1000 genomes]
rs72897837	1.00[AMR][1000 genomes]
rs72897852	1.00[AMR][1000 genomes]
rs72897867	1.00[AMR][1000 genomes]
rs72897875	1.00[AMR][1000 genomes]
rs72898210	1.00[AMR][1000 genomes]
rs72898219	1.00[AMR][1000 genomes]
rs72898224	1.00[AMR][1000 genomes]
rs72898227	1.00[AMR][1000 genomes]
rs72898257	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72898270	1.00[AMR][1000 genomes]
rs72898272	1.00[AMR][1000 genomes]
rs72898275	1.00[AMR][1000 genomes]
rs72898277	1.00[AMR][1000 genomes]
rs72898280	1.00[AMR][1000 genomes]
rs72898284	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72898286	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72898289	1.00[AMR][1000 genomes]
rs72899874	1.00[AMR][1000 genomes]
rs72901740	1.00[AMR][1000 genomes]
rs72909019	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3328565	chr3:27991169-28915035	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv876649	chr3:28126595-28718454	Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:28274200-28282000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr3:28277400-28282000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr3:28279200-28282000	Weak transcription	NHDF-Ad	bronchial
4	chr3:28280000-28282000	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr3:28280000-28282200	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr3:28280600-28282000	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr3:28280800-28282200	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr3:28281000-28282000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr3:28281000-28282000	Weak transcription	Psoas Muscle	Psoas
10	chr3:28281000-28282400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr3:28281000-28282600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr3:28281200-28282000	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr3:28281200-28282200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr3:28281200-28282200	Enhancers	Primary T helper naive cells from peripheral blood	blood
15	chr3:28281200-28282400	Enhancers	Fetal Intestine Small	intestine
16	chr3:28281600-28282000	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr3:28281600-28282000	Enhancers	Primary T helper cells PMA-I stimulated	--
18	chr3:28281600-28282000	Enhancers	Primary T helper cells fromperipheralblood	blood
19	chr3:28281600-28282200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr3:28281600-28282600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr3:28281600-28282600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr3:28281800-28282000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
23	chr3:28281800-28282000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr3:28281800-28282000	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr3:28281800-28282000	Enhancers	Primary hematopoietic stem cells	blood
26	chr3:28281800-28282000	Enhancers	Liver	Liver
27	chr3:28281800-28282000	Enhancers	Brain Angular Gyrus	brain
28	chr3:28281800-28282000	Active TSS	Brain Anterior Caudate	brain
29	chr3:28281800-28282000	Enhancers	Brain Germinal Matrix	brain
30	chr3:28281800-28282000	Enhancers	Brain Inferior Temporal Lobe	brain
31	chr3:28281800-28282000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
32	chr3:28281800-28282000	Enhancers	Colonic Mucosa	Colon
33	chr3:28281800-28282000	Enhancers	Duodenum Smooth Muscle	Duodenum
34	chr3:28281800-28282000	Enhancers	Pancreatic Islets	Pancreatic Islet
35	chr3:28281800-28282000	Enhancers	Rectal Mucosa Donor 31	rectum
36	chr3:28281800-28282000	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr3:28281800-28282000	Enhancers	Stomach Smooth Muscle	stomach
38	chr3:28281800-28282000	Enhancers	Dnd41	blood
39	chr3:28281800-28282000	Enhancers	K562	blood
40	chr3:28281800-28282000	Enhancers	Monocytes-CD14+_RO01746	blood
41	chr3:28281800-28282200	Enhancers	H1 Cell Line	embryonic stem cell
42	chr3:28281800-28282200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
43	chr3:28281800-28282200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
44	chr3:28281800-28282200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
45	chr3:28281800-28282200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
46	chr3:28281800-28282200	Enhancers	Brain Substantia Nigra	brain
47	chr3:28281800-28282400	Enhancers	Primary B cells from peripheral blood	blood
48	chr3:28281800-28282400	Enhancers	Primary T cells from cord blood	blood
49	chr3:28281800-28282600	Flanking Active TSS	HepG2	liver
50	chr3:28281800-28282800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood

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