Variant report

Variant	rs6751576
Chromosome Location	chr2:153251742-153251743
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs13010632	1.00[CHB][hapmap];0.92[CHD][hapmap];0.81[JPT][hapmap];1.00[MEX][hapmap];0.84[TSI][hapmap];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13029407	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16831021	0.91[MEX][hapmap]
rs16831065	0.91[MEX][hapmap]
rs2345874	0.81[MEX][hapmap]
rs2346203	0.91[MEX][hapmap]
rs34047327	0.85[ASN][1000 genomes]
rs6708667	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.92[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv1005012	chr2:153206764-153273886	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	esv3693436	chr2:153219836-153479857	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv875291	chr2:153251742-153339823	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6751576	FMNL2	cis	cerebellum	SCAN

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:153226200-153251800	Weak transcription	HSMMtube	muscle
2	chr2:153229200-153252400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr2:153233800-153255400	Weak transcription	NHEK	skin
4	chr2:153237400-153255400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr2:153237400-153255400	Weak transcription	HMEC	breast
6	chr2:153238600-153258600	Weak transcription	Left Ventricle	heart
7	chr2:153241200-153255400	Weak transcription	Pancreas	Pancrea
8	chr2:153242800-153252600	Weak transcription	A549	lung
9	chr2:153243400-153252600	Weak transcription	Fetal Brain Female	brain
10	chr2:153243800-153252000	Weak transcription	Fetal Lung	lung
11	chr2:153245000-153251800	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr2:153246600-153266600	Enhancers	Brain Substantia Nigra	brain
13	chr2:153247000-153251800	Enhancers	Brain Anterior Caudate	brain
14	chr2:153247000-153257800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr2:153247200-153255400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr2:153247400-153252600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr2:153247400-153252600	Weak transcription	Fetal Stomach	stomach
18	chr2:153247400-153255400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr2:153247400-153277600	Weak transcription	Fetal Intestine Small	intestine
20	chr2:153247800-153258800	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr2:153248200-153251800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr2:153248800-153253600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr2:153249000-153252400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr2:153249000-153252600	Enhancers	Brain Cingulate Gyrus	brain
25	chr2:153249200-153252600	Enhancers	Brain Inferior Temporal Lobe	brain
26	chr2:153249200-153253800	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr2:153249200-153254200	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr2:153249400-153253200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr2:153249600-153255400	Weak transcription	Gastric	stomach
30	chr2:153249600-153255400	Weak transcription	Lung	lung
31	chr2:153249600-153259000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr2:153250000-153252000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr2:153250000-153252400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr2:153250000-153253200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr2:153250000-153254200	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr2:153250200-153252600	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr2:153250400-153257600	Weak transcription	HepG2	liver
38	chr2:153250600-153252400	Weak transcription	Fetal Muscle Leg	muscle
39	chr2:153250600-153252600	Enhancers	Brain Hippocampus Middle	brain
40	chr2:153250800-153251800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr2:153250800-153251800	Enhancers	NHDF-Ad	bronchial
42	chr2:153250800-153252000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr2:153250800-153253600	Enhancers	Skeletal Muscle Female	skeletal muscle
44	chr2:153250800-153258800	Weak transcription	Small Intestine	intestine
45	chr2:153251200-153252200	Enhancers	Brain Angular Gyrus	brain
46	chr2:153251200-153252200	Enhancers	Rectal Smooth Muscle	rectum
47	chr2:153251200-153252400	Enhancers	Muscle Satellite Cultured Cells	--
48	chr2:153251200-153252600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
49	chr2:153251200-153253800	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr2:153251200-153254000	Enhancers	iPS-18 Cell Line	embryonic stem cell

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