Variant report

Variant	rs72853166
Chromosome Location	chr2:30678604-30678605
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:30669997..30671825-chr2:30677783..30679667,2	MCF-7	breast:
2	chr2:30668373..30671369-chr2:30677900..30680714,3	MCF-7	breast:
3	chr2:30677517..30682510-chr2:30682594..30687236,9	K562	blood:
4	chr2:30678439..30680245-chr2:30728764..30731252,2	K562	blood:
5	chr2:30678530..30680872-chr2:30685623..30687236,2	K562	blood:

Variant related genes	Relation type
ENSG00000172954	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs72853149	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72853155	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72853160	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72853177	0.95[AFR][1000 genomes]
rs72853183	0.91[AFR][1000 genomes]
rs72856612	0.88[AFR][1000 genomes]
rs72856616	0.91[AFR][1000 genomes]
rs72856621	0.91[AFR][1000 genomes]
rs72856627	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72856629	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72856655	1.00[AMR][1000 genomes]
rs72863013	1.00[AMR][1000 genomes]
rs7563318	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	nsv533886	chr2:30130019-31068764	ZNF genes & repeats Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv833648	chr2:30505882-30696275	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30671000-30679000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:30671000-30682000	Weak transcription	Aorta	Aorta
3	chr2:30671000-30685200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr2:30671200-30681200	Weak transcription	Right Atrium	heart
5	chr2:30671200-30688200	Weak transcription	HSMM	muscle
6	chr2:30671600-30678800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr2:30671600-30679000	Weak transcription	Lung	lung
8	chr2:30671600-30682000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:30671600-30682000	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr2:30671600-30683800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr2:30671600-30685600	Weak transcription	Primary hematopoietic stem cells	blood
12	chr2:30671600-30688000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr2:30671600-30688200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr2:30671600-30694600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr2:30671600-30703400	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr2:30671600-30704200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr2:30671800-30679600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr2:30671800-30679600	Weak transcription	Fetal Kidney	kidney
19	chr2:30671800-30681400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr2:30672000-30679000	Weak transcription	Ovary	ovary
21	chr2:30672000-30679200	Weak transcription	Thymus	Thymus
22	chr2:30672000-30680600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr2:30672000-30681000	Weak transcription	Primary B cells from peripheral blood	blood
24	chr2:30672000-30681200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr2:30672000-30681800	Weak transcription	Primary B cells from cord blood	blood
26	chr2:30672000-30682000	Weak transcription	Stomach Smooth Muscle	stomach
27	chr2:30672000-30684600	Weak transcription	Hela-S3	cervix
28	chr2:30672000-30686400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr2:30672000-30686800	Weak transcription	Dnd41	blood
30	chr2:30672000-30688000	Weak transcription	Fetal Lung	lung
31	chr2:30672800-30682600	Enhancers	Primary T helper cells PMA-I stimulated	--
32	chr2:30673400-30679200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr2:30673600-30681400	Weak transcription	Primary T helper cells fromperipheralblood	blood
34	chr2:30673800-30681400	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr2:30674000-30679200	Weak transcription	Fetal Thymus	thymus
36	chr2:30674200-30687400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr2:30675800-30679000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr2:30675800-30681600	Weak transcription	Primary T cells from cord blood	blood
39	chr2:30675800-30682000	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr2:30675800-30682200	Enhancers	HepG2	liver
41	chr2:30676200-30679000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr2:30676200-30681200	Weak transcription	Psoas Muscle	Psoas
43	chr2:30676800-30679000	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr2:30677000-30679000	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr2:30677000-30679400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr2:30677400-30679400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr2:30677400-30679400	Enhancers	Duodenum Mucosa	Duodenum
48	chr2:30677400-30680400	Enhancers	Fetal Intestine Small	intestine
49	chr2:30677400-30681800	Enhancers	Fetal Intestine Large	intestine
50	chr2:30677800-30683800	Enhancers	Fetal Heart	heart

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