Variant report

Variant	rs57550143
Chromosome Location	chr9:71872176-71872177
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	POLR2A	chr9:71871077-71872663	HepG2	liver:	n/a	n/a
2	POLR2A	chr9:71871866-71872611	GM12878	blood:	n/a	n/a
3	POLR2A	chr9:71871812-71872535	HepG2	liver:	n/a	n/a
4	CTCF	chr9:71872114-71872181	Lung_OC	lung:	n/a	n/a
5	POLR2A	chr9:71871211-71872582	K562	blood:	n/a	n/a
6	POLR2A	chr9:71872148-71872382	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
ENSG00000269295	TF binding region

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs28445381	1.00[AMR][1000 genomes]
rs28572679	1.00[AMR][1000 genomes]
rs28822200	1.00[AMR][1000 genomes]
rs28864094	1.00[AMR][1000 genomes]
rs59188230	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051723	chr9:71398713-71971285	Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv931684	chr9:71417110-71957723	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv1049175	chr9:71418242-71986910	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv1035823	chr9:71465139-71901672	Genic enhancers Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv466396	chr9:71471912-71935577	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv614548	chr9:71471912-71935577	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
7	nsv1035477	chr9:71511927-71959487	Enhancers Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
8	nsv893416	chr9:71597840-71888601	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
9	nsv817406	chr9:71675454-72179318	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
10	nsv831610	chr9:71846941-72016835	Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
11	esv1796249	chr9:71862129-71911566	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:71828800-71874200	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr9:71831400-71872800	Strong transcription	Liver	Liver
3	chr9:71836400-71874000	Weak transcription	Fetal Brain Male	brain
4	chr9:71839000-71872600	Strong transcription	Fetal Intestine Large	intestine
5	chr9:71847600-71879600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr9:71852000-71876800	Weak transcription	Psoas Muscle	Psoas
7	chr9:71859200-71872200	Strong transcription	HUES6 Cell Line	embryonic stem cell
8	chr9:71859200-71872600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
9	chr9:71859400-71873000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr9:71859600-71872200	Strong transcription	HUES64 Cell Line	embryonic stem cell
11	chr9:71860400-71872800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr9:71861400-71872200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr9:71863800-71874200	Weak transcription	Rectal Smooth Muscle	rectum
14	chr9:71864600-71876800	Weak transcription	Fetal Heart	heart
15	chr9:71864600-71880800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr9:71864800-71880800	Weak transcription	NHDF-Ad	bronchial
17	chr9:71866400-71881000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr9:71866600-71873800	Weak transcription	HSMM	muscle
19	chr9:71868200-71872200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr9:71868200-71872600	Strong transcription	Adipose Nuclei	Adipose
21	chr9:71868400-71872600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr9:71868400-71872800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr9:71868400-71874800	Weak transcription	Fetal Muscle Leg	muscle
24	chr9:71868800-71872600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr9:71868800-71875000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr9:71869000-71875000	Weak transcription	Brain Angular Gyrus	brain
27	chr9:71869000-71879400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr9:71869400-71873400	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr9:71869400-71873400	Weak transcription	Small Intestine	intestine
30	chr9:71869400-71873600	Weak transcription	Colonic Mucosa	Colon
31	chr9:71869400-71873800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr9:71869400-71875200	Weak transcription	Aorta	Aorta
33	chr9:71869400-71876600	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr9:71869400-71879600	Weak transcription	Right Ventricle	heart
35	chr9:71869400-71887200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr9:71869600-71872400	Weak transcription	HSMMtube	muscle
37	chr9:71869600-71872600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr9:71869600-71874400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr9:71869600-71874400	Weak transcription	NHEK	skin
40	chr9:71869600-71874600	Weak transcription	Primary T cells from cord blood	blood
41	chr9:71869600-71879400	Weak transcription	Left Ventricle	heart
42	chr9:71869600-71879600	Weak transcription	Pancreas	Pancrea
43	chr9:71869600-71881000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr9:71869600-71881000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr9:71869800-71873200	Weak transcription	Primary neutrophils fromperipheralblood	blood
46	chr9:71869800-71881000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr9:71869800-71883000	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr9:71870000-71872200	Weak transcription	Fetal Kidney	kidney
49	chr9:71870000-71873400	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr9:71870000-71873600	Weak transcription	Rectal Mucosa Donor 31	rectum

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