Variant report

Variant	rs4744421
Chromosome Location	chr9:97768832-97768833
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:97441331..97443986-chr9:97767707..97769717,2	MCF-7	breast:
2	chr9:97587607..97589933-chr9:97767549..97770278,2	MCF-7	breast:
3	chr9:97671639..97694679-chr9:97760418..97786060,142	MCF-7	breast:
4	chr9:97763979..97769403-chr9:97805439..97812937,10	MCF-7	breast:
5	chr9:97561245..97563934-chr9:97767178..97770063,2	MCF-7	breast:
6	chr9:97765581..97769970-chr9:97809027..97814302,8	MCF-7	breast:
7	chr9:97767984..97771413-chr9:97863181..97865279,3	MCF-7	breast:
8	chr9:97684190..97685424-chr9:97768217..97769091,3	MCF-7	breast:
9	chr9:97566294..97568352-chr9:97767960..97769924,2	MCF-7	breast:
10	chr9:97768459..97771257-chr9:97817268..97820157,2	K562	blood:
11	chr9:97674991..97691307-chr9:97751911..97773298,151	MCF-7	breast:
12	chr9:97763635..97773461-chr9:97847821..97861280,36	MCF-7	breast:
13	chr1:149856773..149859757-chr9:97767567..97770095,2	MCF-7	breast:
14	chr9:97768005..97769861-chr9:98936527..98938758,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000178096	Chromatin interaction
ENSG00000184270	Chromatin interaction
ENSG00000184678	Chromatin interaction
ENSG00000184260	Chromatin interaction
ENSG00000207617	Chromatin interaction
ENSG00000148120	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs1020962	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10217441	1.00[CEU][hapmap]
rs1038092	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10732407	1.00[CEU][hapmap]
rs10761362	1.00[CEU][hapmap]
rs10761371	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10993471	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12553869	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12555128	1.00[JPT][hapmap]
rs12555829	0.82[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1542108	1.00[CEU][hapmap]
rs1564235	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1571896	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1571897	1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs16911834	1.00[JPT][hapmap]
rs16911856	1.00[JPT][hapmap]
rs1871220	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1888944	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1888945	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1888946	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2061798	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2061799	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs2061801	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2104888	1.00[JPT][hapmap]
rs2306207	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs242448	1.00[JPT][hapmap]
rs3739748	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3780560	1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs4332191	1.00[CEU][hapmap]
rs4743972	1.00[CEU][hapmap]
rs4743975	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4743976	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4743977	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4743978	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4743989	0.82[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs4744429	1.00[ASN][1000 genomes]
rs4744437	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs4744440	0.82[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs475413	1.00[JPT][hapmap]
rs6479578	1.00[CEU][hapmap]
rs6479589	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6479596	0.87[EUR][1000 genomes]
rs6479597	0.87[EUR][1000 genomes]
rs67134693	0.96[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7019602	1.00[CEU][hapmap]
rs7022739	1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs7022963	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs7023719	1.00[CEU][hapmap]
rs7025100	1.00[CEU][hapmap]
rs7039768	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7046900	0.82[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs72750335	0.96[ASN][1000 genomes]
rs72750346	0.96[ASN][1000 genomes]
rs72750351	0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs72750359	0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs72750367	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72750373	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73540087	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7867856	1.00[CEU][hapmap]
rs894426	1.00[CEU][hapmap]
rs9299427	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:97765000-97770400	Active TSS	Rectal Mucosa Donor 31	rectum
2	chr9:97765200-97770600	Active TSS	Aorta	Aorta
3	chr9:97765800-97770800	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr9:97765800-97772600	Active TSS	Stomach Smooth Muscle	stomach
5	chr9:97766000-97769000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
6	chr9:97766000-97769000	Active TSS	GM12878-XiMat	blood
7	chr9:97766000-97770000	Active TSS	Breast Myoepithelial Primary Cells	Breast
8	chr9:97766000-97770200	Active TSS	Duodenum Mucosa	Duodenum
9	chr9:97766000-97770400	Active TSS	Ovary	ovary
10	chr9:97766000-97770400	Active TSS	Skeletal Muscle Male	skeletal muscle
11	chr9:97766000-97770400	Active TSS	Skeletal Muscle Female	skeletal muscle
12	chr9:97766000-97770400	Active TSS	NHLF	lung
13	chr9:97766000-97770600	Active TSS	Brain Inferior Temporal Lobe	brain
14	chr9:97766000-97770600	Active TSS	Rectal Mucosa Donor 29	rectum
15	chr9:97766000-97770800	Active TSS	Colonic Mucosa	Colon
16	chr9:97766000-97771000	Active TSS	Colon Smooth Muscle	Colon
17	chr9:97766200-97769000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr9:97766200-97769400	Active TSS	Placenta	Placenta
19	chr9:97766200-97770400	Active TSS	Left Ventricle	heart
20	chr9:97766200-97770600	Active TSS	Brain Hippocampus Middle	brain
21	chr9:97766200-97771000	Active TSS	Right Ventricle	heart
22	chr9:97766200-97771200	Active TSS	Fetal Kidney	kidney
23	chr9:97766200-97771800	Active TSS	Right Atrium	heart
24	chr9:97766400-97769000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr9:97766400-97769000	Active TSS	Sigmoid Colon	Sigmoid Colon
26	chr9:97766400-97769000	Active TSS	Small Intestine	intestine
27	chr9:97766400-97769800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr9:97766400-97769800	Active TSS	Rectal Smooth Muscle	rectum
29	chr9:97766400-97769800	Active TSS	HepG2	liver
30	chr9:97766400-97770000	Active TSS	Pancreas	Pancrea
31	chr9:97766400-97770000	Active TSS	HSMMtube	muscle
32	chr9:97766400-97770400	Active TSS	Psoas Muscle	Psoas
33	chr9:97766400-97771000	Active TSS	Brain Angular Gyrus	brain
34	chr9:97766400-97771000	Active TSS	Brain Cingulate Gyrus	brain
35	chr9:97766400-97771000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
36	chr9:97766400-97771000	Active TSS	Brain Substantia Nigra	brain
37	chr9:97766400-97771400	Active TSS	Duodenum Smooth Muscle	Duodenum
38	chr9:97766600-97770000	Active TSS	Brain Anterior Caudate	brain
39	chr9:97766600-97771000	Active TSS	Esophagus	oesophagus
40	chr9:97766800-97770400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr9:97767000-97769000	Active TSS	Fetal Muscle Trunk	muscle
42	chr9:97767600-97769200	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
43	chr9:97767800-97769000	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr9:97767800-97769200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr9:97767800-97770400	Active TSS	Fetal Heart	heart
46	chr9:97767800-97771200	Transcr. at gene 5' and 3'	HSMM	muscle
47	chr9:97767800-97771400	Transcr. at gene 5' and 3'	Osteobl	bone
48	chr9:97767800-97773600	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr9:97767800-97775200	Transcr. at gene 5' and 3'	A549	lung
50	chr9:97768000-97769400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin

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