Variant report

Variant	rs4744429
Chromosome Location	chr9:97813516-97813517
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:97812899..97815881-chr9:97854427..97857279,2	MCF-7	breast:
2	chr9:97810097..97812414-chr9:97813223..97817126,5	MCF-7	breast:
3	chr9:97765581..97769970-chr9:97809027..97814302,8	MCF-7	breast:
4	chr9:97812810..97815819-chr9:97816453..97821719,4	K562	blood:
5	chr9:97813367..97817167-chr9:97817537..97820356,4	K562	blood:

Variant related genes	Relation type
ENSG00000148120	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs1020962	1.00[ASN][1000 genomes]
rs1038092	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10761371	0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10993471	0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12553869	0.96[ASN][1000 genomes]
rs12555829	1.00[ASN][1000 genomes]
rs1564235	1.00[ASN][1000 genomes]
rs1571896	1.00[ASN][1000 genomes]
rs1871220	1.00[ASN][1000 genomes]
rs1888944	1.00[ASN][1000 genomes]
rs1888945	1.00[ASN][1000 genomes]
rs1888946	1.00[ASN][1000 genomes]
rs2061798	1.00[ASN][1000 genomes]
rs2061801	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2306207	1.00[ASN][1000 genomes]
rs3739748	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3780560	0.80[ASN][1000 genomes]
rs4743975	1.00[ASN][1000 genomes]
rs4743977	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4743978	1.00[ASN][1000 genomes]
rs4743989	0.80[ASN][1000 genomes]
rs4744421	1.00[ASN][1000 genomes]
rs4744437	0.93[ASN][1000 genomes]
rs4744440	0.86[ASN][1000 genomes]
rs6479593	0.90[AMR][1000 genomes]
rs67134693	0.96[ASN][1000 genomes]
rs7039768	1.00[ASN][1000 genomes]
rs7046900	0.93[ASN][1000 genomes]
rs72750335	0.96[ASN][1000 genomes]
rs72750346	0.96[ASN][1000 genomes]
rs72750351	0.96[ASN][1000 genomes]
rs72750359	0.96[ASN][1000 genomes]
rs72750367	1.00[ASN][1000 genomes]
rs72750373	1.00[ASN][1000 genomes]
rs73540087	1.00[ASN][1000 genomes]
rs9299427	0.83[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	nsv933919	chr9:97619512-97919344	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	293 gene(s)	inside rSNPs	diseases
2	nsv1038106	chr9:97793038-97881416	Weak transcription Strong transcription Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	274 gene(s)	inside rSNPs	diseases
3	nsv1038523	chr9:97797032-97923774	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	274 gene(s)	inside rSNPs	diseases
4	nsv540175	chr9:97797032-97923774	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Active 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	274 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:97810000-97816800	Transcr. at gene 5' and 3'	A549	lung
2	chr9:97810200-97814000	Active TSS	Stomach Smooth Muscle	stomach
3	chr9:97810800-97813800	Active TSS	Esophagus	oesophagus
4	chr9:97811200-97815200	Weak transcription	Small Intestine	intestine
5	chr9:97811400-97816000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr9:97811400-97820800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr9:97811600-97816000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr9:97811600-97817600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr9:97811600-97817600	Weak transcription	Fetal Muscle Trunk	muscle
10	chr9:97811600-97817800	Weak transcription	Right Ventricle	heart
11	chr9:97811800-97815200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr9:97812000-97816400	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr9:97812400-97814000	Enhancers	Fetal Heart	heart
14	chr9:97812400-97817400	Weak transcription	GM12878-XiMat	blood
15	chr9:97812600-97816400	Weak transcription	HUVEC	blood vessel
16	chr9:97812600-97817400	Weak transcription	Adipose Nuclei	Adipose
17	chr9:97812600-97818600	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr9:97812800-97815200	Enhancers	HepG2	liver
19	chr9:97812800-97816400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr9:97812800-97816400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr9:97812800-97816800	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr9:97812800-97817600	Weak transcription	Right Atrium	heart
23	chr9:97813000-97814000	Enhancers	Fetal Lung	lung
24	chr9:97813000-97814600	Weak transcription	Aorta	Aorta
25	chr9:97813000-97815200	Weak transcription	Colon Smooth Muscle	Colon
26	chr9:97813000-97815200	Weak transcription	Ovary	ovary
27	chr9:97813000-97815200	Weak transcription	Pancreas	Pancrea
28	chr9:97813000-97815200	Weak transcription	Psoas Muscle	Psoas
29	chr9:97813000-97815600	Weak transcription	NH-A	brain
30	chr9:97813000-97816000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr9:97813000-97816000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr9:97813000-97816000	Weak transcription	Left Ventricle	heart
33	chr9:97813000-97816200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr9:97813000-97816200	Weak transcription	Fetal Intestine Large	intestine
35	chr9:97813000-97816400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr9:97813000-97817800	Weak transcription	Colonic Mucosa	Colon
37	chr9:97813000-97817800	Weak transcription	Duodenum Mucosa	Duodenum
38	chr9:97813000-97817800	Weak transcription	Lung	lung
39	chr9:97813000-97818200	Weak transcription	Stomach Mucosa	stomach
40	chr9:97813000-97819600	Weak transcription	Hela-S3	cervix
41	chr9:97813000-97820600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr9:97813000-97873000	Weak transcription	K562	blood
43	chr9:97813200-97813600	Weak transcription	Brain Angular Gyrus	brain
44	chr9:97813200-97814200	Weak transcription	HSMM	muscle
45	chr9:97813200-97814400	Weak transcription	Brain Hippocampus Middle	brain
46	chr9:97813200-97814400	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr9:97813200-97814400	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr9:97813200-97815200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr9:97813200-97815200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr9:97813200-97815400	Weak transcription	Rectal Smooth Muscle	rectum

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