Variant report

Variant	rs851191
Chromosome Location	chr1:223308965-223308966
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOS	chr1:223308570-223309050	MCF10A-Er-Src	breast:	n/a	n/a
2	E2F4	chr1:223308598-223308994	MCF10A-Er-Src	breast:	n/a	n/a
3	STAT3	chr1:223308590-223309117	MCF10A-Er-Src	breast:	n/a	n/a
4	NFIC	chr1:223308369-223309127	SK-N-SH	brain:	n/a	n/a
5	MYC	chr1:223308564-223309164	MCF10A-Er-Src	breast:	n/a	n/a
6	STAT3	chr1:223307101-223309223	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:223308071..223311101-chr1:223314181..223317156,4	K562	blood:

Variant related genes	Relation type
TLR5	TF binding region
ENSG00000187554	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12122451	0.82[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs1341986	0.87[ASN][1000 genomes]
rs1341987	0.82[CEU][hapmap];0.87[MEX][hapmap];0.89[TSI][hapmap];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1640827	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17609948	0.86[ASN][1000 genomes]
rs1773750	0.86[ASN][1000 genomes]
rs2096141	0.85[CEU][hapmap];0.91[MEX][hapmap];0.91[TSI][hapmap];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2096142	0.85[CEU][hapmap];0.91[MEX][hapmap];0.93[TSI][hapmap];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2353476	0.85[CEU][hapmap];0.91[MEX][hapmap];0.93[TSI][hapmap];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2353477	0.86[AMR][1000 genomes]
rs2487835	0.89[ASN][1000 genomes]
rs4140967	0.83[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs5744113	0.81[TSI][hapmap];0.83[AMR][1000 genomes]
rs5744129	0.87[AMR][1000 genomes]
rs61837564	0.86[ASN][1000 genomes]
rs61837576	0.83[ASN][1000 genomes]
rs72743863	0.86[ASN][1000 genomes]
rs72743873	0.80[ASN][1000 genomes]
rs851139	0.82[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012537	chr1:222755091-223512243	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv1014896	chr1:223070446-223327185	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv832659	chr1:223294767-223438487	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223303200-223314600	Weak transcription	Spleen	Spleen
2	chr1:223306600-223310000	Enhancers	Lung	lung
3	chr1:223306800-223310000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:223306800-223310600	Enhancers	Esophagus	oesophagus
5	chr1:223307400-223309000	Bivalent Enhancer	Fetal Thymus	thymus
6	chr1:223307600-223309200	Flanking Active TSS	NHEK	skin
7	chr1:223307600-223311400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:223307600-223311600	Enhancers	Adipose Nuclei	Adipose
9	chr1:223307600-223311600	Enhancers	Placenta	Placenta
10	chr1:223307600-223314200	Weak transcription	Right Ventricle	heart
11	chr1:223307600-223315800	Weak transcription	Right Atrium	heart
12	chr1:223307800-223309000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr1:223307800-223309000	Enhancers	Duodenum Mucosa	Duodenum
14	chr1:223307800-223309000	Bivalent Enhancer	Fetal Lung	lung
15	chr1:223307800-223309000	Enhancers	HSMM	muscle
16	chr1:223307800-223309000	Enhancers	NHDF-Ad	bronchial
17	chr1:223307800-223309400	Enhancers	Muscle Satellite Cultured Cells	--
18	chr1:223307800-223309400	Bivalent Enhancer	Brain Hippocampus Middle	brain
19	chr1:223307800-223309400	Enhancers	Duodenum Smooth Muscle	Duodenum
20	chr1:223307800-223309600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr1:223307800-223309800	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr1:223307800-223309800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr1:223307800-223309800	Enhancers	Rectal Smooth Muscle	rectum
24	chr1:223307800-223310400	Weak transcription	Liver	Liver
25	chr1:223307800-223310400	Weak transcription	Brain Anterior Caudate	brain
26	chr1:223307800-223310400	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr1:223307800-223310400	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr1:223307800-223311200	Enhancers	HMEC	breast
29	chr1:223307800-223312600	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr1:223308000-223309000	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
31	chr1:223308000-223309600	Enhancers	H1 Cell Line	embryonic stem cell
32	chr1:223308000-223311000	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr1:223308200-223309000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
34	chr1:223308200-223309400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr1:223308200-223309600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
36	chr1:223308200-223309800	Enhancers	Fetal Muscle Trunk	muscle
37	chr1:223308400-223309000	Enhancers	Ovary	ovary
38	chr1:223308400-223310600	Enhancers	Psoas Muscle	Psoas
39	chr1:223308600-223309000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
40	chr1:223308600-223309600	Bivalent Enhancer	Fetal Stomach	stomach
41	chr1:223308600-223309800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr1:223308600-223309800	Enhancers	Fetal Muscle Leg	muscle
43	chr1:223308600-223309800	Genic enhancers	Monocytes-CD14+_RO01746	blood
44	chr1:223308600-223314000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr1:223308800-223309000	Bivalent Enhancer	Primary T cells from cord blood	blood
46	chr1:223308800-223309000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr1:223308800-223309000	Flanking Active TSS	Osteobl	bone
48	chr1:223308800-223309200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr1:223308800-223309400	Enhancers	Primary B cells from cord blood	blood
50	chr1:223308800-223309400	Enhancers	NHLF	lung

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