Variant report

Variant	rs4744197
Chromosome Location	chr9:95985714-95985715
allele	C/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:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:95979216..95981957-chr9:95985560..95987157,3	MCF-7	breast:
2	chr9:95895227..95897412-chr9:95984058..95986307,4	MCF-7	breast:
3	chr9:95969627..95972419-chr9:95984512..95987236,2	MCF-7	breast:
4	chr9:95985503..95987734-chr9:95991883..95994859,2	K562	blood:
5	chr9:95984475..95986803-chr9:96213565..96215408,2	MCF-7	breast:
6	chr9:95985013..95987112-chr9:96075720..96077410,2	MCF-7	breast:
7	chr9:95961414..95965641-chr9:95984083..95987391,7	MCF-7	breast:
8	chr9:95984275..95988045-chr9:96050195..96053603,3	MCF-7	breast:
9	chr9:95980802..95983532-chr9:95984355..95985930,2	MCF-7	breast:
10	chr9:95969895..95975601-chr9:95984404..95988658,5	MCF-7	breast:
11	chr9:95941785..95943328-chr9:95985699..95988332,2	MCF-7	breast:
12	chr9:95895675..95897780-chr9:95985604..95987775,2	MCF-7	breast:
13	chr9:95984628..95986573-chr9:95997782..95999959,2	MCF-7	breast:
14	chr9:95964307..95966000-chr9:95985456..95987978,3	MCF-7	breast:
15	chr9:95984750..95986357-chr9:96003461..96005146,2	MCF-7	breast:
16	chr9:95946365..95948119-chr9:95984241..95985758,2	MCF-7	breast:
17	chr9:95984333..95987281-chr9:96026818..96031361,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000188938	Chromatin interaction
ENSG00000165238	Chromatin interaction
ENSG00000131669	Chromatin interaction
ENSG00000048828	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10122466	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10512233	1.00[CEU][hapmap]
rs12340904	1.00[YRI][hapmap]
rs1539670	1.00[CEU][hapmap];0.86[CHB][hapmap]
rs16909000	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs16909005	1.00[CEU][hapmap];0.83[AMR][1000 genomes]
rs16909016	1.00[CEU][hapmap];0.83[AMR][1000 genomes]
rs16936752	1.00[CEU][hapmap]
rs1891971	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1891972	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1891973	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1936403	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1970622	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4744202	1.00[CEU][hapmap]
rs4744205	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs55692827	0.83[AMR][1000 genomes]
rs55706397	0.83[AMR][1000 genomes]
rs6479467	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7029968	0.85[AMR][1000 genomes]
rs72743431	0.83[AMR][1000 genomes]
rs72743433	0.83[AMR][1000 genomes]
rs72743435	0.83[AMR][1000 genomes]
rs72743443	0.83[AMR][1000 genomes]
rs7859604	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7859628	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7871272	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526296	chr9:95708192-96030392	Enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv893576	chr9:95789960-96158277	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv893580	chr9:95855100-96099377	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer 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
4	nsv430082	chr9:95905745-96095045	Genic enhancers Enhancers Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv893582	chr9:95963114-96116937	Bivalent Enhancer Bivalent/Poised TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:95971200-95985800	Weak transcription	Brain Cingulate Gyrus	brain
2	chr9:95974400-95986800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr9:95979600-95986400	Enhancers	Fetal Heart	heart
4	chr9:95979600-95992200	Enhancers	Left Ventricle	heart
5	chr9:95981600-95989200	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr9:95982600-95986800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr9:95983200-95987200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
8	chr9:95983600-95985800	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr9:95984800-95998000	Enhancers	Pancreas	Pancrea
10	chr9:95985200-95985800	Enhancers	Primary B cells from cord blood	blood
11	chr9:95985200-95985800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr9:95985200-95987800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr9:95985200-95988200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr9:95985200-95988200	Enhancers	HMEC	breast
15	chr9:95985200-95988400	Enhancers	Primary B cells from peripheral blood	blood
16	chr9:95985200-95989000	Enhancers	Rectal Mucosa Donor 29	rectum
17	chr9:95985200-95989400	Enhancers	Right Ventricle	heart
18	chr9:95985200-95990400	Enhancers	Rectal Mucosa Donor 31	rectum
19	chr9:95985400-95985800	Enhancers	Lung	lung
20	chr9:95985400-95985800	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
21	chr9:95985400-95986000	Enhancers	Rectal Smooth Muscle	rectum
22	chr9:95985400-95986200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr9:95985400-95986200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr9:95985400-95986200	Enhancers	Primary hematopoietic stem cells	blood
25	chr9:95985400-95986200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr9:95985400-95986200	Flanking Active TSS	A549	lung
27	chr9:95985400-95986200	Enhancers	NH-A	brain
28	chr9:95985400-95986200	Enhancers	NHLF	lung
29	chr9:95985400-95986400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr9:95985400-95986400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr9:95985400-95986400	Enhancers	Muscle Satellite Cultured Cells	--
32	chr9:95985400-95986400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr9:95985400-95986600	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr9:95985400-95986600	Enhancers	HSMM	muscle
35	chr9:95985400-95986800	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr9:95985400-95986800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr9:95985400-95987000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr9:95985400-95987000	Bivalent Enhancer	Fetal Stomach	stomach
39	chr9:95985400-95987000	Flanking Active TSS	Hela-S3	cervix
40	chr9:95985400-95987200	Enhancers	Fetal Muscle Leg	muscle
41	chr9:95985400-95987200	Enhancers	Stomach Mucosa	stomach
42	chr9:95985400-95987400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr9:95985400-95987400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr9:95985400-95987400	Enhancers	Brain Germinal Matrix	brain
45	chr9:95985400-95987400	Genic enhancers	Fetal Intestine Small	intestine
46	chr9:95985400-95987400	Enhancers	Fetal Thymus	thymus
47	chr9:95985400-95987400	Enhancers	Gastric	stomach
48	chr9:95985400-95987400	Enhancers	Psoas Muscle	Psoas
49	chr9:95985400-95987400	Enhancers	Right Atrium	heart
50	chr9:95985400-95987600	Enhancers	Colon Smooth Muscle	Colon

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