Variant report

Variant	rs59800170
Chromosome Location	chr9:94103850-94103851
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:94103649..94105719-chr9:94123863..94125427,2	MCF-7	breast:
2	chr9:94103409..94105645-chr9:94120684..94122259,2	K562	blood:
3	chr9:94097644..94101149-chr9:94101391..94105187,4	K562	blood:
4	chr9:94087425..94089272-chr9:94102729..94105618,2	K562	blood:
5	chr9:94096260..94098366-chr9:94101881..94104584,2	MCF-7	breast:
6	chr9:94094684..94097540-chr9:94102093..94106003,3	K562	blood:

Variant related genes	Relation type
ENSG00000148090	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10991804	0.92[EUR][1000 genomes]
rs10991805	0.92[EUR][1000 genomes]
rs10991806	0.92[EUR][1000 genomes]
rs10991817	1.00[EUR][1000 genomes]
rs10991818	1.00[EUR][1000 genomes]
rs10991822	1.00[EUR][1000 genomes]
rs10991830	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12236197	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12236200	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12236228	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16907283	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16907285	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs56673856	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56703453	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56878940	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56924073	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57231133	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57252569	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57417571	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57891613	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58116121	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58154704	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58170057	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58543156	0.90[AFR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59049485	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59101284	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59183509	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59271728	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59300141	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59555429	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59752488	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59849416	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60448531	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60709727	0.92[EUR][1000 genomes]
rs60833404	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60908817	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61330200	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61566702	1.00[EUR][1000 genomes]
rs61613297	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7031841	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7042607	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7043392	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7045388	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73497200	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73503277	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73503296	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73505203	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73505205	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73505206	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7849844	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7863280	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7866310	1.00[EUR][1000 genomes]
rs7870604	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7871207	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv893570	chr9:93973938-94148084	Enhancers Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv482877	chr9:93979351-94157734	Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv893571	chr9:94072113-94202927	Genic enhancers Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:94052000-94119200	Weak transcription	Small Intestine	intestine
2	chr9:94066800-94104000	Weak transcription	HSMM	muscle
3	chr9:94075800-94104200	Weak transcription	NHEK	skin
4	chr9:94082200-94104000	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr9:94084400-94104200	Weak transcription	NHDF-Ad	bronchial
6	chr9:94090200-94104000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr9:94090200-94106200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr9:94090400-94104000	Weak transcription	NHLF	lung
9	chr9:94090400-94104200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr9:94090400-94104200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr9:94090400-94104200	Weak transcription	Aorta	Aorta
12	chr9:94090400-94104200	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr9:94090400-94104200	Weak transcription	Esophagus	oesophagus
14	chr9:94090600-94104000	Weak transcription	Ovary	ovary
15	chr9:94090600-94108400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr9:94090600-94109400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr9:94092000-94104200	Weak transcription	Osteobl	bone
18	chr9:94093200-94122600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr9:94094800-94104200	Weak transcription	GM12878-XiMat	blood
20	chr9:94095400-94104000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr9:94095400-94104200	Weak transcription	Right Ventricle	heart
22	chr9:94096800-94104000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr9:94096800-94104200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr9:94096800-94104200	Weak transcription	Lung	lung
25	chr9:94097800-94121600	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr9:94098200-94104200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr9:94098600-94104200	Strong transcription	Primary hematopoietic stem cells	blood
28	chr9:94099200-94105400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr9:94099200-94105600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
30	chr9:94099200-94105800	Strong transcription	Primary B cells from peripheral blood	blood
31	chr9:94099600-94104200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr9:94099600-94104400	Strong transcription	Stomach Smooth Muscle	stomach
33	chr9:94099800-94108600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr9:94100000-94104400	Strong transcription	Rectal Mucosa Donor 29	rectum
35	chr9:94100000-94106800	Strong transcription	Primary B cells from cord blood	blood
36	chr9:94100200-94104000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr9:94100400-94105200	Strong transcription	Fetal Intestine Large	intestine
38	chr9:94100400-94105400	Strong transcription	HepG2	liver
39	chr9:94100600-94104400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
40	chr9:94100600-94105400	Strong transcription	HUES6 Cell Line	embryonic stem cell
41	chr9:94101000-94104800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
42	chr9:94101000-94105400	Strong transcription	HUES48 Cell Line	embryonic stem cell
43	chr9:94101000-94122400	Weak transcription	HUVEC	blood vessel
44	chr9:94101200-94104200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr9:94101200-94104200	Strong transcription	Adipose Nuclei	Adipose
46	chr9:94101200-94104800	Strong transcription	Duodenum Smooth Muscle	Duodenum
47	chr9:94101200-94104800	Strong transcription	Fetal Brain Female	brain
48	chr9:94101400-94104400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr9:94101400-94104400	Strong transcription	Monocytes-CD14+_RO01746	blood
50	chr9:94101400-94104600	Strong transcription	Brain Cingulate Gyrus	brain

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