Variant report

Variant	rs6478522
Chromosome Location	chr9:100790547-100790548
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:100788714..100791155-chr9:100817263..100819851,2	MCF-7	breast:
2	chr9:100789228..100794108-chr9:100794751..100799924,8	K562	blood:
3	chr9:100777690..100780620-chr9:100789410..100792089,2	MCF-7	breast:
4	chr9:100683121..100685809-chr9:100788659..100790764,2	K562	blood:
5	chr9:100767752..100769741-chr9:100788658..100791290,2	K562	blood:
6	chr9:100747352..100749216-chr9:100789908..100792300,2	K562	blood:
7	chr9:100746635..100749216-chr9:100789236..100791408,2	K562	blood:

Variant related genes	Relation type
ENSG00000136932	Chromatin interaction
ENSG00000095380	Chromatin interaction
ENSG00000136938	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12001675	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12554172	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3739672	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4742711	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4743150	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4743151	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7019033	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7041878	0.86[ASN][1000 genomes]
rs7850685	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7855432	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs874610	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs957955	0.81[AFR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv482635	chr9:100775549-100953239	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer 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 target site	36 gene(s)	inside rSNPs	diseases
2	esv3493282	chr9:100784615-100805700	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	esv3493283	chr9:100784615-100805700	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:100781800-100791800	Weak transcription	Hela-S3	cervix
2	chr9:100781800-100796800	Weak transcription	Brain Anterior Caudate	brain
3	chr9:100781800-100796800	Weak transcription	Colon Smooth Muscle	Colon
4	chr9:100782000-100796800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr9:100782200-100792400	Weak transcription	Aorta	Aorta
6	chr9:100782200-100794200	Weak transcription	NHDF-Ad	bronchial
7	chr9:100782200-100796800	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr9:100782200-100796800	Weak transcription	HepG2	liver
9	chr9:100782400-100796800	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr9:100782400-100797000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr9:100783000-100791200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr9:100783600-100796800	Weak transcription	Liver	Liver
13	chr9:100783600-100796800	Weak transcription	A549	lung
14	chr9:100783600-100797000	Weak transcription	Brain Substantia Nigra	brain
15	chr9:100783800-100797000	Weak transcription	NHEK	skin
16	chr9:100784000-100803800	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr9:100784200-100790600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr9:100784200-100792200	Weak transcription	Primary hematopoietic stem cells	blood
19	chr9:100784200-100794800	Weak transcription	GM12878-XiMat	blood
20	chr9:100784200-100796800	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr9:100784200-100796800	Weak transcription	Gastric	stomach
22	chr9:100784200-100796800	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr9:100784200-100796800	Weak transcription	Dnd41	blood
24	chr9:100784200-100796800	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr9:100784200-100797000	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr9:100784400-100791800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr9:100784400-100794200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr9:100784400-100794200	Weak transcription	HSMM	muscle
29	chr9:100784400-100796000	Weak transcription	Fetal Thymus	thymus
30	chr9:100784400-100796800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr9:100784400-100796800	Weak transcription	Duodenum Mucosa	Duodenum
32	chr9:100784400-100796800	Weak transcription	Fetal Muscle Trunk	muscle
33	chr9:100784400-100797000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr9:100784400-100797000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr9:100784400-100797400	Weak transcription	HSMMtube	muscle
36	chr9:100784600-100792000	Weak transcription	Fetal Stomach	stomach
37	chr9:100784600-100795600	Weak transcription	Stomach Smooth Muscle	stomach
38	chr9:100784600-100796800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr9:100784600-100796800	Weak transcription	Fetal Muscle Leg	muscle
40	chr9:100784800-100796800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr9:100785000-100797000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr9:100785000-100801400	Weak transcription	Fetal Intestine Small	intestine
43	chr9:100785200-100797400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr9:100785600-100797000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr9:100787600-100794000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr9:100789000-100796800	Weak transcription	Pancreas	Pancrea
47	chr9:100789200-100797000	Weak transcription	Thymus	Thymus

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