Variant report

Variant	rs62157841
Chromosome Location	chr2:112880587-112880588
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:112879801..112881759-chr2:112882141..112885127,2	K562	blood:
2	chr2:112879135..112881392-chr2:113031053..113032839,3	K562	blood:
3	chr2:112639897..112641721-chr2:112879530..112881822,2	MCF-7	breast:

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11123128	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11675443	0.87[EUR][1000 genomes]
rs11677075	0.97[ASN][1000 genomes]
rs12185740	0.95[ASN][1000 genomes]
rs13400421	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2872109	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35326322	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4318395	0.88[ASN][1000 genomes]
rs4848272	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7349410	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9917306	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874863	chr2:112591224-113157344	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	nsv874864	chr2:112617280-113104142	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv874865	chr2:112623098-113049274	Enhancers Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
4	nsv1013218	chr2:112645633-112908416	Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	esv3333591	chr2:112669320-112892618	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv1014787	chr2:112679182-112908416	Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
7	nsv535893	chr2:112679182-112908416	Strong transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs62157841	FBLN7	cis	Artery Tibial	GTEx

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:112835800-112883200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr2:112851200-112881600	Weak transcription	Stomach Mucosa	stomach
3	chr2:112856800-112881800	Weak transcription	Brain Cingulate Gyrus	brain
4	chr2:112857000-112883000	Weak transcription	Hela-S3	cervix
5	chr2:112857000-112891200	Weak transcription	Small Intestine	intestine
6	chr2:112867600-112882600	Weak transcription	Fetal Stomach	stomach
7	chr2:112867800-112881400	Weak transcription	Fetal Intestine Small	intestine
8	chr2:112869800-112884000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr2:112869800-112890200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr2:112870000-112881800	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr2:112870400-112895000	Weak transcription	HMEC	breast
12	chr2:112870400-112895200	Weak transcription	Gastric	stomach
13	chr2:112870600-112882000	Weak transcription	Esophagus	oesophagus
14	chr2:112870600-112882200	Weak transcription	NHEK	skin
15	chr2:112870600-112882800	Weak transcription	Rectal Smooth Muscle	rectum
16	chr2:112871200-112881800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr2:112871200-112881800	Weak transcription	Brain Hippocampus Middle	brain
18	chr2:112871200-112882600	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr2:112871200-112883200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr2:112874400-112882000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr2:112874600-112882800	Weak transcription	Lung	lung
22	chr2:112875600-112891400	Weak transcription	HepG2	liver
23	chr2:112875800-112881800	Weak transcription	Fetal Muscle Trunk	muscle
24	chr2:112875800-112882000	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr2:112876000-112881600	Weak transcription	Colon Smooth Muscle	Colon
26	chr2:112876000-112881800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr2:112876000-112881800	Weak transcription	Spleen	Spleen
28	chr2:112876000-112882000	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr2:112876000-112882600	Weak transcription	Primary B cells from peripheral blood	blood
30	chr2:112876000-112882600	Weak transcription	Aorta	Aorta
31	chr2:112876000-112882800	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr2:112876000-112883200	Weak transcription	Primary T cells from cord blood	blood
33	chr2:112876000-112883200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr2:112876000-112883600	Weak transcription	Liver	Liver
35	chr2:112876000-112890000	Weak transcription	Ovary	ovary
36	chr2:112876000-112893600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr2:112876000-112895000	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr2:112876000-112895000	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr2:112876000-112895000	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr2:112876200-112890400	Weak transcription	K562	blood
41	chr2:112876600-112881800	Weak transcription	Adipose Nuclei	Adipose
42	chr2:112876600-112882800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr2:112876600-112886200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr2:112877000-112882600	Weak transcription	Primary monocytes fromperipheralblood	blood
45	chr2:112878800-112880600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr2:112878800-112881800	Strong transcription	Monocytes-CD14+_RO01746	blood
47	chr2:112879400-112881600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr2:112879600-112880600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr2:112879600-112880800	Strong transcription	Cortex derived primary cultured neurospheres	brain
50	chr2:112879600-112881000	Strong transcription	Osteobl	bone

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