Variant report

Variant	rs60481989
Chromosome Location	chr2:30486058-30486059
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:30481283..30483299-chr2:30485255..30486981,2	K562	blood:
2	chr2:30460136..30462980-chr2:30484445..30486179,2	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs57783522	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6727586	1.00[ASN][1000 genomes]
rs72863564	1.00[ASN][1000 genomes]
rs72863566	1.00[ASN][1000 genomes]
rs72863567	1.00[ASN][1000 genomes]
rs72863572	1.00[ASN][1000 genomes]
rs72863576	1.00[ASN][1000 genomes]
rs72863578	1.00[ASN][1000 genomes]
rs9677363	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	nsv1002657	chr2:30339312-30516535	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv2662	chr2:30462905-30495134	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30476600-30496000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:30477000-30488800	Weak transcription	Primary hematopoietic stem cells	blood
3	chr2:30477800-30489000	Weak transcription	Stomach Mucosa	stomach
4	chr2:30478000-30488400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr2:30478200-30488400	Weak transcription	Right Atrium	heart
6	chr2:30478600-30487400	Weak transcription	K562	blood
7	chr2:30479200-30489000	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr2:30481000-30489400	Weak transcription	Small Intestine	intestine
9	chr2:30481400-30489800	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr2:30481600-30489200	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr2:30482000-30486200	Genic enhancers	Primary T cells from cord blood	blood
12	chr2:30482000-30489600	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr2:30482200-30488400	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr2:30482200-30489000	Weak transcription	Rectal Smooth Muscle	rectum
15	chr2:30482200-30489400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr2:30482400-30487000	Weak transcription	Fetal Intestine Large	intestine
17	chr2:30482400-30488400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr2:30482400-30489000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr2:30482400-30489000	Weak transcription	Pancreas	Pancrea
20	chr2:30482400-30489000	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr2:30482400-30491400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr2:30482600-30488400	Weak transcription	Lung	lung
23	chr2:30482600-30489000	Weak transcription	Esophagus	oesophagus
24	chr2:30482600-30489000	Weak transcription	Placenta	Placenta
25	chr2:30482800-30488400	Weak transcription	NH-A	brain
26	chr2:30482800-30489000	Weak transcription	Aorta	Aorta
27	chr2:30483000-30486400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr2:30483200-30488400	Weak transcription	Left Ventricle	heart
29	chr2:30483200-30488800	Weak transcription	Fetal Heart	heart
30	chr2:30483400-30487400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr2:30483400-30487400	Weak transcription	Colon Smooth Muscle	Colon
32	chr2:30483400-30487600	Enhancers	Primary T helper cells fromperipheralblood	blood
33	chr2:30483400-30488400	Weak transcription	Osteobl	bone
34	chr2:30483400-30488800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
35	chr2:30483600-30487000	Weak transcription	Spleen	Spleen
36	chr2:30483600-30489000	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr2:30483800-30488400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr2:30483800-30488400	Weak transcription	Thymus	Thymus
39	chr2:30484000-30487200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr2:30484000-30487200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr2:30484000-30487200	Weak transcription	Fetal Lung	lung
42	chr2:30484000-30488000	Weak transcription	Primary B cells from cord blood	blood
43	chr2:30484000-30488400	Weak transcription	HSMM	muscle
44	chr2:30484000-30488400	Weak transcription	HSMMtube	muscle
45	chr2:30484000-30488400	Weak transcription	NHDF-Ad	bronchial
46	chr2:30484000-30488400	Weak transcription	NHLF	lung
47	chr2:30484000-30488800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
48	chr2:30484600-30486400	Enhancers	Primary T killer memory cells from peripheral blood	blood
49	chr2:30485000-30486600	Enhancers	Primary T helper naive cells from peripheral blood	blood
50	chr2:30485000-30487400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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