Variant report

Variant	rs72853177
Chromosome Location	chr2:30682565-30682566
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:30618142..30620784-chr2:30680796..30682766,2	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs57847208	1.00[EUR][1000 genomes]
rs60320955	1.00[AMR][1000 genomes]
rs60449073	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6748456	1.00[EUR][1000 genomes]
rs72853149	0.89[AFR][1000 genomes]
rs72853155	0.86[AFR][1000 genomes]
rs72853160	0.91[AFR][1000 genomes]
rs72853166	0.95[AFR][1000 genomes]
rs72853183	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72856612	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72856616	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72856621	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72856627	0.89[AFR][1000 genomes]
rs72856629	0.93[AFR][1000 genomes]
rs72856642	0.83[AMR][1000 genomes]
rs72856644	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72856659	1.00[EUR][1000 genomes]
rs72856689	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72859002	1.00[EUR][1000 genomes]
rs72863023	1.00[EUR][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:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30671000-30685200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr2:30671200-30688200	Weak transcription	HSMM	muscle
3	chr2:30671600-30683800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr2:30671600-30685600	Weak transcription	Primary hematopoietic stem cells	blood
5	chr2:30671600-30688000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr2:30671600-30688200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr2:30671600-30694600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr2:30671600-30703400	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr2:30671600-30704200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr2:30672000-30684600	Weak transcription	Hela-S3	cervix
11	chr2:30672000-30686400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr2:30672000-30686800	Weak transcription	Dnd41	blood
13	chr2:30672000-30688000	Weak transcription	Fetal Lung	lung
14	chr2:30672800-30682600	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr2:30674200-30687400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:30677800-30683800	Enhancers	Fetal Heart	heart
17	chr2:30678200-30684200	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr2:30678200-30684200	Weak transcription	A549	lung
19	chr2:30678400-30704200	Weak transcription	Fetal Stomach	stomach
20	chr2:30678600-30688000	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr2:30678600-30703800	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr2:30678600-30710600	Weak transcription	NHLF	lung
23	chr2:30678800-30687800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr2:30679000-30682600	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr2:30679000-30683600	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr2:30679000-30684200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
27	chr2:30679200-30688000	Weak transcription	Pancreas	Pancrea
28	chr2:30679400-30688000	Weak transcription	Duodenum Mucosa	Duodenum
29	chr2:30679600-30683600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr2:30679600-30685800	Weak transcription	Fetal Thymus	thymus
31	chr2:30679800-30683200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr2:30679800-30687400	Weak transcription	Fetal Kidney	kidney
33	chr2:30679800-30688000	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr2:30680400-30682600	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr2:30680400-30686400	Weak transcription	Fetal Intestine Small	intestine
36	chr2:30680400-30688000	Weak transcription	Thymus	Thymus
37	chr2:30680600-30682600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr2:30680600-30688000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr2:30680600-30688000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr2:30680800-30684000	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr2:30681000-30682600	Enhancers	Primary B cells from peripheral blood	blood
42	chr2:30681000-30682600	Enhancers	Primary T killer memory cells from peripheral blood	blood
43	chr2:30681000-30683200	Enhancers	Small Intestine	intestine
44	chr2:30681000-30685800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
45	chr2:30681200-30682600	Enhancers	Left Ventricle	heart
46	chr2:30681200-30683200	Enhancers	Psoas Muscle	Psoas
47	chr2:30681400-30683600	Enhancers	Primary T helper cells fromperipheralblood	blood
48	chr2:30681400-30688000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr2:30681600-30683600	Enhancers	Primary T cells from cord blood	blood
50	chr2:30681800-30683800	Enhancers	Ovary	ovary

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