Variant report

Variant	rs913060
Chromosome Location	chr1:92150058-92150059
allele	A/G
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: 9 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs17131522	0.83[CHD][hapmap]

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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs913060	LRRN1	trans	parietal	SCAN
rs913060	GFI1	cis	cerebellum	SCAN

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:92143800-92152200	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr1:92143800-92154200	Weak transcription	Aorta	Aorta
3	chr1:92145200-92159000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
4	chr1:92146600-92157000	Weak transcription	Fetal Brain Male	brain
5	chr1:92146800-92163000	Weak transcription	Hela-S3	cervix
6	chr1:92147000-92150200	Weak transcription	HUVEC	blood vessel
7	chr1:92147200-92151600	Weak transcription	Psoas Muscle	Psoas
8	chr1:92147400-92164600	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr1:92147600-92150400	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr1:92147800-92150200	Weak transcription	Osteobl	bone
11	chr1:92148000-92150200	Enhancers	GM12878-XiMat	blood
12	chr1:92148000-92151400	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr1:92148200-92150400	Strong transcription	HepG2	liver
14	chr1:92148200-92151800	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr1:92148400-92150800	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr1:92148400-92154800	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr1:92148600-92150200	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr1:92148600-92150400	Enhancers	Rectal Mucosa Donor 29	rectum
19	chr1:92148600-92150600	Enhancers	H1 Cell Line	embryonic stem cell
20	chr1:92148600-92150600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr1:92148600-92150800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr1:92148600-92150800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr1:92148600-92150800	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr1:92148600-92150800	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr1:92148600-92151000	Enhancers	Colonic Mucosa	Colon
26	chr1:92148600-92151800	Enhancers	Fetal Thymus	thymus
27	chr1:92148600-92152800	Enhancers	Fetal Heart	heart
28	chr1:92148600-92154400	Genic enhancers	NHDF-Ad	bronchial
29	chr1:92148600-92154600	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr1:92148600-92155000	Enhancers	Duodenum Mucosa	Duodenum
31	chr1:92148800-92150800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr1:92149000-92150400	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr1:92149000-92150800	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr1:92149000-92150800	Enhancers	Small Intestine	intestine
35	chr1:92149000-92150800	Enhancers	Stomach Mucosa	stomach
36	chr1:92149000-92151800	Enhancers	Rectal Mucosa Donor 31	rectum
37	chr1:92149000-92170000	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr1:92149200-92150400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr1:92149200-92151000	Weak transcription	Fetal Muscle Trunk	muscle
40	chr1:92149200-92151400	Enhancers	Duodenum Smooth Muscle	Duodenum
41	chr1:92149200-92151400	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr1:92149200-92152000	Enhancers	Adipose Nuclei	Adipose
43	chr1:92149200-92155400	Enhancers	Fetal Lung	lung
44	chr1:92149400-92150200	Enhancers	Lung	lung
45	chr1:92149400-92150600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr1:92149400-92150800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr1:92149400-92150800	Enhancers	Fetal Intestine Small	intestine
48	chr1:92149400-92151000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr1:92149400-92151600	Enhancers	Fetal Stomach	stomach
50	chr1:92149400-92151600	Enhancers	Stomach Smooth Muscle	stomach

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