Variant report

Variant	rs7044229
Chromosome Location	chr9:96076318-96076319
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:96040692..96043610-chr9:96075654..96077486,2	K562	blood:
2	chr9:95985013..95987112-chr9:96075720..96077410,2	MCF-7	breast:
3	chr9:95904775..95906435-chr9:96074379..96077038,2	MCF-7	breast:
4	chr9:96072987..96083429-chr9:96209751..96218385,15	MCF-7	breast:
5	chr9:96075548..96077378-chr9:96079994..96082442,3	MCF-7	breast:
6	chr9:96064647..96066997-chr9:96073946..96076546,2	MCF-7	breast:
7	chr9:96071537..96077428-chr9:96212026..96217506,11	MCF-7	breast:
8	chr9:95787650..95789848-chr9:96075432..96077120,2	MCF-7	breast:
9	chr9:96074294..96076580-chr9:96209945..96211637,2	MCF-7	breast:
10	chr9:95894388..95896527-chr9:96074614..96076645,2	MCF-7	breast:
11	chr9:96074295..96076793-chr9:96204759..96207230,4	MCF-7	breast:

No data

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

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10761208	0.97[AFR][1000 genomes]
rs1111776	0.95[AFR][1000 genomes]
rs12683662	0.92[AFR][1000 genomes]
rs12684392	0.93[AFR][1000 genomes]
rs1891970	0.90[AFR][1000 genomes]
rs2169756	0.92[AFR][1000 genomes]
rs2991376	0.92[AFR][1000 genomes]
rs2995999	0.82[AFR][1000 genomes]
rs3001449	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs4743913	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4743914	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4744214	0.91[AFR][1000 genomes]
rs56161352	0.86[AFR][1000 genomes]
rs6479473	0.92[AFR][1000 genomes]
rs7025514	0.82[AFR][1000 genomes]
rs7025611	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7031917	0.82[AFR][1000 genomes]
rs7042492	0.87[AFR][1000 genomes]
rs73651384	0.82[AFR][1000 genomes]
rs7853075	0.86[AFR][1000 genomes]
rs7866298	0.97[AFR][1000 genomes]
rs7872608	0.99[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	nsv893583	chr9:95996573-96091688	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv893584	chr9:96002983-96116937	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:96033400-96077200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr9:96055600-96080200	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr9:96056400-96079800	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr9:96061600-96079000	Weak transcription	Gastric	stomach
5	chr9:96063800-96088600	Weak transcription	Right Atrium	heart
6	chr9:96065000-96079200	Weak transcription	Colonic Mucosa	Colon
7	chr9:96065200-96080000	Weak transcription	Spleen	Spleen
8	chr9:96066000-96082800	Weak transcription	Fetal Thymus	thymus
9	chr9:96067200-96081200	Weak transcription	Fetal Heart	heart
10	chr9:96067600-96079200	Weak transcription	Right Ventricle	heart
11	chr9:96067600-96086800	Weak transcription	Fetal Brain Male	brain
12	chr9:96067800-96086800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr9:96068200-96086200	Weak transcription	Brain Anterior Caudate	brain
14	chr9:96068400-96082400	Weak transcription	Brain Angular Gyrus	brain
15	chr9:96068400-96100400	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr9:96068600-96079200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr9:96068600-96080200	Weak transcription	Left Ventricle	heart
18	chr9:96068800-96080800	Weak transcription	Psoas Muscle	Psoas
19	chr9:96068800-96082600	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr9:96069200-96079400	Weak transcription	Fetal Muscle Leg	muscle
21	chr9:96069400-96079600	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr9:96069400-96080000	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr9:96070600-96087800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr9:96070800-96077200	Weak transcription	Stomach Smooth Muscle	stomach
25	chr9:96071400-96078800	Weak transcription	Brain Germinal Matrix	brain
26	chr9:96071400-96079000	Weak transcription	Fetal Stomach	stomach
27	chr9:96072600-96079000	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr9:96073600-96077400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr9:96073800-96077000	Weak transcription	Fetal Brain Female	brain
30	chr9:96074000-96088600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr9:96075200-96079200	Weak transcription	Pancreas	Pancrea
32	chr9:96075200-96081000	Weak transcription	Placenta	Placenta
33	chr9:96075400-96076600	Weak transcription	Fetal Intestine Small	intestine
34	chr9:96075400-96077400	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr9:96075400-96078200	Weak transcription	Stomach Mucosa	stomach
36	chr9:96075400-96078400	Weak transcription	Fetal Lung	lung
37	chr9:96075400-96079000	Weak transcription	Fetal Intestine Large	intestine
38	chr9:96075400-96079400	Weak transcription	Rectal Smooth Muscle	rectum
39	chr9:96075400-96080400	Weak transcription	Colon Smooth Muscle	Colon
40	chr9:96075600-96077000	Weak transcription	Duodenum Mucosa	Duodenum
41	chr9:96075600-96078800	Enhancers	HepG2	liver
42	chr9:96076200-96088400	Weak transcription	A549	lung

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