Variant report

Variant	rs9369459
Chromosome Location	chr6:44123947-44123948
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:9 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXA2	chr6:44123835-44124845	HepG2	liver:	n/a	n/a
2	POLR2A	chr6:44123914-44124692	U87	brain:	n/a	n/a
3	MYBL2	chr6:44123907-44125303	HepG2	liver:	n/a	n/a
4	FOXA1	chr6:44123941-44124907	HepG2	liver:	n/a	chr6:44124266-44124281
5	TEAD4	chr6:44123886-44125164	HepG2	liver:	n/a	n/a
6	POLR2A	chr6:44123943-44125152	HepG2	liver:	n/a	n/a
7	POLR2A	chr6:44123847-44124651	SK-N-MC	brain:	n/a	n/a
8	MYBL2	chr6:44123943-44125083	HepG2	liver:	n/a	n/a
9	POLR2A	chr6:44123799-44125415	HepG2	liver:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr6:44059411..44061109-chr6:44123433..44125629,2	MCF-7	breast:
2	chr6:44095328..44097774-chr6:44122871..44124673,2	MCF-7	breast:
3	chr6:44123243..44125562-chr6:44129516..44131201,2	K562	blood:
4	chr6:44109910..44113195-chr6:44121591..44124104,3	MCF-7	breast:
5	chr6:44116712..44124292-chr6:44220837..44227181,13	K562	blood:
6	chr6:44123017..44125201-chr6:44128032..44129588,2	MCF-7	breast:
7	chr6:44122736..44127198-chr6:44213713..44218106,8	K562	blood:
8	chr6:44122153..44124354-chr6:44125581..44128516,3	K562	blood:
9	chr6:44098855..44101234-chr6:44121944..44124290,2	MCF-7	breast:
10	chr6:44123357..44125146-chr6:44203946..44206894,2	K562	blood:
11	chr6:44064455..44066858-chr6:44120767..44125089,3	MCF-7	breast:

No data

Variant related genes	Relation type
CAPN11	TF binding region
ENSG00000137216	Chromatin interaction
ENSG00000157593	Chromatin interaction
ENSG00000096384	Chromatin interaction
ENSG00000137225	Chromatin interaction
ENSG00000265700	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs12199128	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12202501	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12206251	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12206795	0.87[EUR][1000 genomes]
rs2092870	0.87[EUR][1000 genomes]
rs3734696	0.89[EUR][1000 genomes]
rs3734697	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4628095	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4711764	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4711766	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4714750	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4714754	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4714759	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4714761	0.88[ASN][1000 genomes]
rs4714762	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62401766	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62403189	0.87[EUR][1000 genomes]
rs9349271	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9349272	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9349275	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9357432	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9369448	0.87[EUR][1000 genomes]
rs9369449	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9369450	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9369453	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9369454	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9369456	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9369457	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs9381294	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9394984	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931987	chr6:43624625-44350167	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	201 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:44101800-44124000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr6:44103800-44124600	Strong transcription	Fetal Stomach	stomach
3	chr6:44109800-44124200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr6:44114000-44129400	Weak transcription	NHDF-Ad	bronchial
5	chr6:44114200-44128400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr6:44114200-44129200	Weak transcription	NH-A	brain
7	chr6:44115200-44129400	Weak transcription	Hela-S3	cervix
8	chr6:44115600-44128400	Weak transcription	Dnd41	blood
9	chr6:44117200-44124200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr6:44117200-44131200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr6:44117400-44129200	Weak transcription	HSMM	muscle
12	chr6:44117600-44129400	Weak transcription	HSMMtube	muscle
13	chr6:44117800-44130800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr6:44118000-44124200	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr6:44118000-44124200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr6:44118000-44124400	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr6:44118000-44125000	Weak transcription	Brain Substantia Nigra	brain
18	chr6:44118000-44126200	Weak transcription	Fetal Lung	lung
19	chr6:44118200-44124000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr6:44118200-44124400	Weak transcription	Brain Angular Gyrus	brain
21	chr6:44118200-44129000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr6:44118400-44124000	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr6:44118400-44124000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr6:44118400-44124800	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr6:44118600-44130600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr6:44118800-44126800	Weak transcription	Primary T cells from cord blood	blood
27	chr6:44119600-44124200	Weak transcription	Primary hematopoietic stem cells	blood
28	chr6:44119800-44124600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
29	chr6:44119800-44124800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr6:44119800-44124800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr6:44119800-44128400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr6:44119800-44128600	Weak transcription	GM12878-XiMat	blood
33	chr6:44119800-44130800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr6:44119800-44140600	Weak transcription	Right Atrium	heart
35	chr6:44120000-44124600	Weak transcription	Brain Anterior Caudate	brain
36	chr6:44120200-44125000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr6:44120800-44124000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr6:44121000-44124200	Weak transcription	K562	blood
39	chr6:44121000-44129200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr6:44121000-44129200	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr6:44121000-44129200	Weak transcription	Osteobl	bone
42	chr6:44121600-44124000	Weak transcription	Duodenum Mucosa	Duodenum
43	chr6:44121600-44124400	Weak transcription	Brain Hippocampus Middle	brain
44	chr6:44121600-44126600	Weak transcription	Right Ventricle	heart
45	chr6:44121800-44126400	Enhancers	Stomach Mucosa	stomach
46	chr6:44121800-44129200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr6:44122000-44124000	Weak transcription	Liver	Liver
48	chr6:44122000-44124200	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr6:44122000-44124600	Weak transcription	Esophagus	oesophagus
50	chr6:44122000-44125000	Enhancers	Thymus	Thymus

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