Variant report

Variant	rs6764364
Chromosome Location	chr3:120154643-120154644
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:120145331..120148802-chr3:120153199..120156349,3	K562	blood:
2	chr3:120153559..120155176-chr3:120167245..120169976,2	MCF-7	breast:
3	chr3:120145338..120147579-chr3:120153518..120155283,2	K562	blood:

Variant related genes	Relation type
ENSG00000163430	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1123897	0.95[CEU][hapmap];0.86[EUR][1000 genomes]
rs1123898	0.86[EUR][1000 genomes]
rs6791913	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9854823	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9855400	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9879383	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[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	nsv949589	chr3:119560606-120175917	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv1007557	chr3:119892894-120764353	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv536706	chr3:119892894-120764353	Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv1012127	chr3:120015620-120272893	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv536707	chr3:120015620-120272893	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv1006428	chr3:120015620-120421982	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	esv3369381	chr3:120066425-120425510	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
8	esv3350409	chr3:120066445-120425480	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6764364	FSTL1	cis	cerebellum	SCAN

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:120137400-120162200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr3:120137800-120161600	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr3:120138200-120157200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr3:120138200-120162000	Weak transcription	Primary hematopoietic stem cells	blood
5	chr3:120138200-120167800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr3:120138200-120169200	Weak transcription	Gastric	stomach
7	chr3:120138400-120155600	Weak transcription	Esophagus	oesophagus
8	chr3:120144400-120165800	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr3:120145400-120157600	Weak transcription	Fetal Brain Female	brain
10	chr3:120145800-120168800	Weak transcription	Pancreas	Pancrea
11	chr3:120146800-120157800	Weak transcription	Fetal Brain Male	brain
12	chr3:120148000-120161000	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr3:120149000-120161200	Genic enhancers	NHDF-Ad	bronchial
14	chr3:120149200-120155400	Weak transcription	Brain Anterior Caudate	brain
15	chr3:120149200-120156600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr3:120149400-120155600	Enhancers	Colon Smooth Muscle	Colon
17	chr3:120149400-120157200	Weak transcription	Colonic Mucosa	Colon
18	chr3:120150400-120157400	Weak transcription	Fetal Intestine Large	intestine
19	chr3:120151200-120155400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr3:120151800-120166200	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr3:120152000-120155200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr3:120152000-120158400	Weak transcription	Brain Hippocampus Middle	brain
23	chr3:120152200-120156400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr3:120152200-120157200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr3:120152400-120157000	Enhancers	Ovary	ovary
26	chr3:120152600-120154800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr3:120152600-120155200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr3:120152600-120161400	Genic enhancers	Fetal Muscle Leg	muscle
29	chr3:120152600-120162200	Genic enhancers	Fetal Stomach	stomach
30	chr3:120152800-120155800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr3:120153000-120157600	Weak transcription	Duodenum Mucosa	Duodenum
32	chr3:120153000-120167600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr3:120153200-120156600	Weak transcription	Lung	lung
34	chr3:120153200-120159400	Weak transcription	Spleen	Spleen
35	chr3:120153400-120155400	Enhancers	Rectal Mucosa Donor 31	rectum
36	chr3:120153400-120155600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr3:120153400-120160600	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr3:120153600-120155800	Enhancers	Right Ventricle	heart
39	chr3:120153800-120159400	Enhancers	Aorta	Aorta
40	chr3:120154000-120155000	Enhancers	Fetal Kidney	kidney
41	chr3:120154000-120155000	Enhancers	Right Atrium	heart
42	chr3:120154000-120155600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr3:120154000-120155600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr3:120154000-120155800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr3:120154000-120155800	Enhancers	Placenta	Placenta
46	chr3:120154000-120155800	Enhancers	NHEK	skin
47	chr3:120154000-120156400	Enhancers	Placenta Amnion	Placenta Amnion
48	chr3:120154000-120161200	Enhancers	Skeletal Muscle Male	skeletal muscle
49	chr3:120154200-120154800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr3:120154200-120154800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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