Variant report

Variant	rs59849416
Chromosome Location	chr9:94122429-94122430
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr9:94122412-94122691	K562	blood:	n/a	n/a
2	ZNF384	chr9:94122099-94122783	K562	blood:	n/a	n/a
3	MAFF	chr9:94122429-94122744	K562	blood:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:94118243..94121111-chr9:94121420..94123747,2	MCF-7	breast:
2	chr9:93959750..93961882-chr9:94121877..94124140,2	K562	blood:
3	chr9:94121700..94124113-chr9:94130067..94131901,2	K562	blood:
4	chr9:94112282..94113941-chr9:94121360..94122984,2	K562	blood:
5	chr9:94120989..94122585-chr9:94173872..94176280,2	K562	blood:
6	chr9:94120744..94125236-chr9:94184262..94187726,6	K562	blood:
7	chr9:94122021..94124488-chr9:94184872..94187456,5	MCF-7	breast:
8	chr9:94122308..94125236-chr9:94184727..94188096,6	K562	blood:
9	chr9:93954102..93956914-chr9:94120904..94123589,2	K562	blood:
10	chr9:94108222..94110620-chr9:94122202..94123731,2	MCF-7	breast:

No data

Variant related genes	Relation type
AUH	TF binding region
ENSG00000165030	Chromatin interaction
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[EUR][1000 genomes]
rs12236197	1.00[EUR][1000 genomes]
rs12236200	1.00[EUR][1000 genomes]
rs12236228	1.00[EUR][1000 genomes]
rs16907283	1.00[EUR][1000 genomes]
rs16907285	0.92[EUR][1000 genomes]
rs56673856	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56703453	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56878940	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56924073	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57231133	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57252569	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57417571	0.81[AFR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57891613	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58116121	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58154704	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58170057	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58543156	0.88[AFR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59049485	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59101284	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59183509	0.90[AFR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59271728	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59300141	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59555429	1.00[EUR][1000 genomes]
rs59752488	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59800170	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60448531	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60709727	0.92[EUR][1000 genomes]
rs60833404	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60908817	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61330200	0.95[AFR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61566702	1.00[EUR][1000 genomes]
rs61613297	0.97[AFR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7031841	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7042607	1.00[EUR][1000 genomes]
rs7043392	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7045388	1.00[EUR][1000 genomes]
rs73497200	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73503277	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73503296	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73505203	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73505205	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73505206	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7849844	0.95[AFR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7863280	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7866310	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7870604	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7871207	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes];0.95[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:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:94093200-94122600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr9:94104400-94122800	Weak transcription	Colonic Mucosa	Colon
3	chr9:94104800-94122600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr9:94104800-94122600	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr9:94104800-94122600	Weak transcription	HSMMtube	muscle
6	chr9:94104800-94123600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr9:94105200-94122600	Weak transcription	Osteobl	bone
8	chr9:94105200-94122800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr9:94105400-94122600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr9:94105600-94123000	Weak transcription	Placenta	Placenta
11	chr9:94106400-94122800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr9:94109800-94122600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr9:94109800-94123000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr9:94109800-94123000	Weak transcription	Esophagus	oesophagus
15	chr9:94113600-94122600	Weak transcription	NH-A	brain
16	chr9:94114000-94122600	Weak transcription	Fetal Muscle Leg	muscle
17	chr9:94114200-94122600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr9:94114200-94122800	Weak transcription	Aorta	Aorta
19	chr9:94114600-94122600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr9:94114600-94122800	Weak transcription	Left Ventricle	heart
21	chr9:94114600-94123000	Weak transcription	Lung	lung
22	chr9:94115800-94123000	Weak transcription	Fetal Muscle Trunk	muscle
23	chr9:94116400-94122600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr9:94117600-94122800	Weak transcription	Fetal Thymus	thymus
25	chr9:94118800-94122600	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr9:94119000-94122600	Enhancers	Primary T helper cells fromperipheralblood	blood
27	chr9:94119200-94122800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr9:94120000-94122600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
29	chr9:94120600-94122600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr9:94120600-94122600	Enhancers	Fetal Heart	heart
31	chr9:94120600-94123400	Flanking Active TSS	GM12878-XiMat	blood
32	chr9:94120800-94122600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
33	chr9:94121000-94122800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
34	chr9:94121200-94122600	Enhancers	Primary hematopoietic stem cells	blood
35	chr9:94121200-94122600	Enhancers	Brain Anterior Caudate	brain
36	chr9:94121200-94122600	Enhancers	Fetal Intestine Small	intestine
37	chr9:94121200-94122800	Enhancers	Primary T cells from cord blood	blood
38	chr9:94121400-94122600	Enhancers	Brain Substantia Nigra	brain
39	chr9:94121400-94122600	Enhancers	Stomach Mucosa	stomach
40	chr9:94121400-94122800	Enhancers	Primary T helper naive cells from peripheral blood	blood
41	chr9:94121400-94122800	Enhancers	Primary T killer memory cells from peripheral blood	blood
42	chr9:94121400-94122800	Flanking Active TSS	HepG2	liver
43	chr9:94121400-94123000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
44	chr9:94121600-94122600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr9:94121600-94123000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr9:94121600-94123000	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr9:94121800-94122600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
48	chr9:94121800-94122600	Enhancers	Brain Hippocampus Middle	brain
49	chr9:94121800-94122600	Enhancers	Colon Smooth Muscle	Colon
50	chr9:94121800-94122600	Enhancers	Ovary	ovary

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