Variant report

Variant	rs1060673
Chromosome Location	chr2:30480445-30480446
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:30479645-30484280	A549	lung:	n/a	n/a
2	POLR2A	chr2:30477119-30482747	SK-N-MC	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:30451092..30457677-chr2:30474497..30480716,15	K562	blood:
2	chr2:30475438..30481096-chr2:30481124..30485591,9	K562	blood:
3	chr2:30475603..30478549-chr2:30478723..30480577,2	K562	blood:
4	chr2:30475984..30481096-chr2:30481124..30486276,10	K562	blood:

Variant related genes	Relation type
ENSG00000256261	TF binding region
ENSG00000256261	Chromatin interaction
ENSG00000213626	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10206415	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs13396613	1.00[EUR][1000 genomes]
rs13420534	1.00[EUR][1000 genomes]
rs17009304	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs4952115	0.92[ASW][hapmap];0.88[LWK][hapmap];0.95[MKK][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs7575454	1.00[EUR][1000 genomes]
rs7578508	1.00[EUR][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:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30457800-30481000	Weak transcription	Gastric	stomach
2	chr2:30471000-30484400	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr2:30471200-30482000	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
4	chr2:30471800-30481600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr2:30472600-30483400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr2:30473400-30480800	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr2:30473400-30480800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr2:30474200-30480800	Enhancers	Pancreas	Pancrea
9	chr2:30474400-30481400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr2:30476200-30481200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr2:30476200-30481400	Weak transcription	Esophagus	oesophagus
12	chr2:30476200-30483400	Weak transcription	Brain Anterior Caudate	brain
13	chr2:30476400-30481400	Weak transcription	Brain Cingulate Gyrus	brain
14	chr2:30476600-30481400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr2:30476600-30496000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr2:30476800-30480600	Weak transcription	Colonic Mucosa	Colon
17	chr2:30476800-30481400	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
18	chr2:30476800-30485600	Weak transcription	Fetal Kidney	kidney
19	chr2:30477000-30481000	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr2:30477000-30484200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr2:30477000-30488800	Weak transcription	Primary hematopoietic stem cells	blood
22	chr2:30477200-30483800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr2:30477400-30481800	Genic enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr2:30477600-30483600	Strong transcription	Fetal Stomach	stomach
25	chr2:30477800-30481000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr2:30477800-30481000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr2:30477800-30482800	Strong transcription	Aorta	Aorta
28	chr2:30477800-30489000	Weak transcription	Stomach Mucosa	stomach
29	chr2:30478000-30482400	Genic enhancers	Left Ventricle	heart
30	chr2:30478000-30488400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr2:30478200-30488400	Weak transcription	Right Atrium	heart
32	chr2:30478600-30481400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr2:30478600-30487400	Weak transcription	K562	blood
34	chr2:30478800-30484000	Strong transcription	NHLF	lung
35	chr2:30479000-30481800	Strong transcription	Primary B cells from peripheral blood	blood
36	chr2:30479000-30482600	Strong transcription	Lung	lung
37	chr2:30479000-30483000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr2:30479000-30483400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr2:30479000-30483400	Strong transcription	Stomach Smooth Muscle	stomach
40	chr2:30479000-30483600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr2:30479200-30481000	Strong transcription	Spleen	Spleen
42	chr2:30479200-30481200	Flanking Active TSS	Dnd41	blood
43	chr2:30479200-30482200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr2:30479200-30484000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
45	chr2:30479200-30484000	Strong transcription	HSMMtube	muscle
46	chr2:30479200-30489000	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr2:30479400-30482200	Strong transcription	Duodenum Mucosa	Duodenum
48	chr2:30479400-30482400	Strong transcription	HUES6 Cell Line	embryonic stem cell
49	chr2:30479400-30482800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr2:30479400-30483400	Strong transcription	Osteobl	bone

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