Variant report

Variant	rs5008216
Chromosome Location	chr2:153198489-153198490
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:153197976..153200865-chr2:153202322..153203907,3	MCF-7	breast:
2	chr2:153196103..153199228-chr2:153200981..153204897,3	K562	blood:
3	chr2:153193156..153194815-chr2:153197354..153200252,2	MCF-7	breast:

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10803946	0.86[CHB][hapmap]
rs13034665	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2002558	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2003332	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2003333	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28394649	0.86[CHB][hapmap];0.84[CHD][hapmap]
rs35953368	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3887026	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4035882	0.94[ASN][1000 genomes]
rs4311022	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4519464	0.81[AMR][1000 genomes]
rs4664100	0.92[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.84[TSI][hapmap];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55860423	0.81[AMR][1000 genomes]
rs6722740	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.85[TSI][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6725954	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7583872	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.85[TSI][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7584000	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7585911	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7589218	0.86[CHB][hapmap];0.82[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3693434	chr2:152998467-153208713	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv834419	chr2:153179420-153381476	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs5008216	FMNL2	cis	cerebellum	SCAN

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:153193800-153199200	Weak transcription	Fetal Muscle Trunk	muscle
2	chr2:153193800-153211000	Weak transcription	HSMMtube	muscle
3	chr2:153194000-153200000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr2:153194000-153200200	Weak transcription	Fetal Intestine Large	intestine
5	chr2:153194000-153201200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr2:153194000-153203600	Weak transcription	Osteobl	bone
7	chr2:153194000-153206600	Weak transcription	Pancreas	Pancrea
8	chr2:153194200-153224400	Weak transcription	Aorta	Aorta
9	chr2:153194400-153200600	Weak transcription	NHDF-Ad	bronchial
10	chr2:153194400-153201200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr2:153194400-153202800	Weak transcription	Fetal Intestine Small	intestine
12	chr2:153194600-153198800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr2:153194600-153199000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr2:153194600-153199000	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr2:153194600-153199200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr2:153194600-153199600	Weak transcription	Fetal Muscle Leg	muscle
17	chr2:153194600-153200200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr2:153194600-153200600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr2:153194600-153200600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr2:153194600-153204200	Weak transcription	Stomach Smooth Muscle	stomach
21	chr2:153194600-153205800	Weak transcription	Left Ventricle	heart
22	chr2:153194600-153206200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr2:153194600-153206400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr2:153194600-153206400	Weak transcription	Lung	lung
25	chr2:153194600-153206600	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr2:153194600-153210400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr2:153194600-153210400	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr2:153194600-153214600	Weak transcription	Gastric	stomach
29	chr2:153194800-153198800	Enhancers	Brain Cingulate Gyrus	brain
30	chr2:153194800-153199200	Enhancers	Brain Substantia Nigra	brain
31	chr2:153194800-153199400	Weak transcription	Fetal Kidney	kidney
32	chr2:153194800-153203800	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr2:153195000-153199000	Weak transcription	Hela-S3	cervix
34	chr2:153195000-153199200	Enhancers	Brain Angular Gyrus	brain
35	chr2:153195000-153199400	Enhancers	Brain Inferior Temporal Lobe	brain
36	chr2:153195000-153200800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr2:153195000-153204600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr2:153195400-153200000	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr2:153195600-153198600	Enhancers	Fetal Lung	lung
40	chr2:153195800-153199000	Enhancers	Brain Hippocampus Middle	brain
41	chr2:153196000-153198600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr2:153196000-153199200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr2:153196000-153199600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr2:153196000-153200800	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr2:153196000-153224800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr2:153196200-153198600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
47	chr2:153196200-153200600	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr2:153196200-153200800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr2:153196200-153204200	Weak transcription	Fetal Brain Female	brain
50	chr2:153196600-153202400	Strong transcription	NHEK	skin

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