Variant report

Variant	rs913059
Chromosome Location	chr1:92149836-92149837
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:92143583..92146461-chr1:92147900..92150725,3	K562	blood:
2	chr1:92148164..92151549-chr1:92152320..92156969,4	K562	blood:
3	chr1:92147184..92150173-chr1:92170826..92172983,2	K562	blood:
4	chr1:92143375..92146604-chr1:92147900..92150729,3	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11165262	1.00[JPT][hapmap]
rs11165300	1.00[JPT][hapmap]
rs11807260	1.00[JPT][hapmap]
rs11807271	1.00[JPT][hapmap]
rs17512269	1.00[JPT][hapmap]
rs2046736	1.00[JPT][hapmap]
rs2765885	0.90[ASN][1000 genomes]
rs6662887	1.00[JPT][hapmap]
rs6693438	1.00[JPT][hapmap]
rs902	1.00[CEU][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009560	chr1:91897078-92270781	Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats 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	14 gene(s)	inside rSNPs	diseases
2	nsv1012864	chr1:92067100-92827761	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv535029	chr1:92067100-92827761	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	esv2763581	chr1:92068967-92203803	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
5	nsv1014990	chr1:92084142-92206674	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
6	nsv530438	chr1:92091957-92827760	Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	nsv1010179	chr1:92140209-92655952	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
8	nsv535030	chr1:92140209-92655952	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:92139600-92150000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr1:92139600-92150000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr1:92143800-92152200	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr1:92143800-92154200	Weak transcription	Aorta	Aorta
5	chr1:92145200-92159000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
6	chr1:92146600-92157000	Weak transcription	Fetal Brain Male	brain
7	chr1:92146800-92150000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr1:92146800-92163000	Weak transcription	Hela-S3	cervix
9	chr1:92147000-92150200	Weak transcription	HUVEC	blood vessel
10	chr1:92147200-92151600	Weak transcription	Psoas Muscle	Psoas
11	chr1:92147400-92164600	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr1:92147600-92150400	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr1:92147800-92150200	Weak transcription	Osteobl	bone
14	chr1:92148000-92150200	Enhancers	GM12878-XiMat	blood
15	chr1:92148000-92151400	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr1:92148200-92150400	Strong transcription	HepG2	liver
17	chr1:92148200-92151800	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr1:92148400-92150800	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr1:92148400-92154800	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr1:92148600-92150000	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr1:92148600-92150200	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr1:92148600-92150400	Enhancers	Rectal Mucosa Donor 29	rectum
23	chr1:92148600-92150600	Enhancers	H1 Cell Line	embryonic stem cell
24	chr1:92148600-92150600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr1:92148600-92150800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr1:92148600-92150800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr1:92148600-92150800	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr1:92148600-92150800	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr1:92148600-92151000	Enhancers	Colonic Mucosa	Colon
30	chr1:92148600-92151800	Enhancers	Fetal Thymus	thymus
31	chr1:92148600-92152800	Enhancers	Fetal Heart	heart
32	chr1:92148600-92154400	Genic enhancers	NHDF-Ad	bronchial
33	chr1:92148600-92154600	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr1:92148600-92155000	Enhancers	Duodenum Mucosa	Duodenum
35	chr1:92148800-92150800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr1:92149000-92150000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr1:92149000-92150000	Weak transcription	Right Atrium	heart
38	chr1:92149000-92150000	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr1:92149000-92150400	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr1:92149000-92150800	Enhancers	iPS-20b Cell Line	embryonic stem cell
41	chr1:92149000-92150800	Enhancers	Small Intestine	intestine
42	chr1:92149000-92150800	Enhancers	Stomach Mucosa	stomach
43	chr1:92149000-92151800	Enhancers	Rectal Mucosa Donor 31	rectum
44	chr1:92149000-92170000	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr1:92149200-92150000	Weak transcription	Spleen	Spleen
46	chr1:92149200-92150400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr1:92149200-92151000	Weak transcription	Fetal Muscle Trunk	muscle
48	chr1:92149200-92151400	Enhancers	Duodenum Smooth Muscle	Duodenum
49	chr1:92149200-92151400	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr1:92149200-92152000	Enhancers	Adipose Nuclei	Adipose

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