Variant report

Variant	rs7575454
Chromosome Location	chr2:30484442-30484443
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	chr2:30483037..30484827-chr2:30488803..30490387,2	K562	blood:
2	chr2:30446792..30448947-chr2:30482354..30485147,2	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10206415	1.00[EUR][1000 genomes]
rs1060673	1.00[EUR][1000 genomes]
rs13396613	1.00[EUR][1000 genomes]
rs13420534	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7578508	1.00[EUR][1000 genomes]
rs9558	0.84[YRI][hapmap]

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:80 , 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	chr2:30476800-30485600	Weak transcription	Fetal Kidney	kidney
3	chr2:30477000-30488800	Weak transcription	Primary hematopoietic stem cells	blood
4	chr2:30477800-30489000	Weak transcription	Stomach Mucosa	stomach
5	chr2:30478000-30488400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr2:30478200-30488400	Weak transcription	Right Atrium	heart
7	chr2:30478600-30487400	Weak transcription	K562	blood
8	chr2:30479200-30489000	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr2:30481000-30489400	Weak transcription	Small Intestine	intestine
10	chr2:30481400-30489800	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr2:30481600-30489200	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr2:30482000-30484600	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr2:30482000-30484800	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr2:30482000-30486200	Genic enhancers	Primary T cells from cord blood	blood
15	chr2:30482000-30489600	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr2:30482200-30484600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr2:30482200-30484600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr2:30482200-30484600	Weak transcription	Duodenum Mucosa	Duodenum
19	chr2:30482200-30484800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr2:30482200-30488400	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr2:30482200-30489000	Weak transcription	Rectal Smooth Muscle	rectum
22	chr2:30482200-30489400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr2:30482400-30485000	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr2:30482400-30485200	Weak transcription	Gastric	stomach
25	chr2:30482400-30487000	Weak transcription	Fetal Intestine Large	intestine
26	chr2:30482400-30488400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr2:30482400-30489000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr2:30482400-30489000	Weak transcription	Pancreas	Pancrea
29	chr2:30482400-30489000	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr2:30482400-30491400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr2:30482600-30484600	Weak transcription	Fetal Muscle Trunk	muscle
32	chr2:30482600-30484800	Weak transcription	Dnd41	blood
33	chr2:30482600-30488400	Weak transcription	Lung	lung
34	chr2:30482600-30489000	Weak transcription	Esophagus	oesophagus
35	chr2:30482600-30489000	Weak transcription	Placenta	Placenta
36	chr2:30482800-30485200	Weak transcription	Right Ventricle	heart
37	chr2:30482800-30488400	Weak transcription	NH-A	brain
38	chr2:30482800-30489000	Weak transcription	Aorta	Aorta
39	chr2:30483000-30484800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr2:30483000-30486400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
41	chr2:30483200-30484600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr2:30483200-30484600	Enhancers	Primary T helper naive cells from peripheral blood	blood
43	chr2:30483200-30488400	Weak transcription	Left Ventricle	heart
44	chr2:30483200-30488800	Weak transcription	Fetal Heart	heart
45	chr2:30483400-30484600	Weak transcription	Stomach Smooth Muscle	stomach
46	chr2:30483400-30485000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr2:30483400-30487400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr2:30483400-30487400	Weak transcription	Colon Smooth Muscle	Colon
49	chr2:30483400-30487600	Enhancers	Primary T helper cells fromperipheralblood	blood
50	chr2:30483400-30488400	Weak transcription	Osteobl	bone

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