Variant report

Variant	rs9450772
Chromosome Location	chr6:88412911-88412912
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MTA3	chr6:88410224-88413062	GM12878	blood:	n/a	n/a
2	YY1	chr6:88412750-88413047	GM12878	blood:	n/a	n/a
3	FOS	chr6:88411872-88412945	MCF10A-Er-Src	breast:	n/a	n/a
4	PAX5	chr6:88412862-88413097	GM12878	blood:	n/a	n/a
5	MEF2A	chr6:88411667-88413038	GM12878	blood:	n/a	chr6:88412208-88412216
6	RCOR1	chr6:88411440-88412944	Hela-S3	cervix:	n/a	n/a
7	NFATC1	chr6:88411501-88412943	GM12878	blood:	n/a	n/a
8	BHLHE40	chr6:88412672-88412944	GM12878	blood:	n/a	n/a
9	MXI1	chr6:88408236-88413045	SK-N-SH	brain:	n/a	n/a
10	JUND	chr6:88412842-88412980	HepG2	liver:	n/a	chr6:88412886-88412897
11	SMARCC2	chr6:88411313-88412923	Hela-S3	cervix:	n/a	chr6:88412063-88412072
12	KAP1	chr6:88411781-88412995	U2OS	brain:	n/a	n/a
13	MAX	chr6:88410256-88412935	Hela-S3	cervix:	n/a	n/a
14	RUNX3	chr6:88412622-88413011	GM12878	blood:	n/a	n/a
15	MYBL2	chr6:88411516-88412970	HepG2	liver:	n/a	n/a
16	POLR2A	chr6:88411341-88412932	PFSK-1	brain:	n/a	n/a
17	ATF2	chr6:88411282-88413010	GM12878	blood:	n/a	n/a
18	JUND	chr6:88410381-88412959	K562	blood:	n/a	chr6:88412886-88412897
19	FOS	chr6:88411957-88413007	MCF10A-Er-Src	breast:	n/a	n/a
20	NFIC	chr6:88411701-88412983	GM12878	blood:	n/a	n/a
21	FOXM1	chr6:88411505-88413042	GM12878	blood:	n/a	n/a
22	NRF1	chr6:88411551-88412954	SK-N-SH	brain:	n/a	chr6:88412019-88412030 chr6:88412019-88412033 chr6:88412021-88412030 chr6:88412779-88412786 chr6:88412019-88412030
23	FOS	chr6:88411921-88413040	MCF10A-Er-Src	breast:	n/a	n/a
24	NFIC	chr6:88411364-88413007	GM12878	blood:	n/a	n/a
25	MEF2A	chr6:88412555-88413091	GM12878	blood:	n/a	n/a
26	POLR2A	chr6:88412783-88413054	HepG2	liver:	n/a	n/a
27	JUND	chr6:88411504-88412993	H1-hESC	embryonic stem cell:	n/a	chr6:88412886-88412897
28	POLR2A	chr6:88409954-88412942	GM12878	blood:	n/a	n/a
29	BATF	chr6:88412705-88413040	GM12878	blood:	n/a	n/a
30	GTF3C2	chr6:88412254-88413133	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:88180469..88184304-chr6:88409511..88413377,7	K562	blood:
2	chr6:88180469..88184304-chr6:88409409..88413377,5	K562	blood:
3	chr6:88412009..88413890-chr6:88498419..88499936,2	MCF-7	breast:

Variant related genes	Relation type
AKIRIN2	TF binding region
ENSG00000164414	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs10046347	1.00[AFR][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	esv2758068	chr6:88358988-88441473	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	esv2759454	chr6:88358988-88441473	Strong transcription Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv7941	chr6:88403555-88413595	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:88407400-88413200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr6:88407400-88413200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr6:88407400-88413200	Active TSS	Psoas Muscle	Psoas
4	chr6:88407600-88413000	Active TSS	H9 Cell Line	embryonic stem cell
5	chr6:88407600-88413000	Active TSS	iPS-15b Cell Line	embryonic stem cell
6	chr6:88407600-88413000	Active TSS	HSMMtube	muscle
7	chr6:88408000-88413000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr6:88408000-88413000	Active TSS	HUES64 Cell Line	embryonic stem cell
9	chr6:88408000-88413000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
10	chr6:88408000-88413000	Active TSS	Duodenum Smooth Muscle	Duodenum
11	chr6:88408000-88413000	Active TSS	Stomach Smooth Muscle	stomach
12	chr6:88408000-88413000	Active TSS	HMEC	breast
13	chr6:88408000-88413000	Active TSS	HSMM	muscle
14	chr6:88408000-88413000	Active TSS	NHDF-Ad	bronchial
15	chr6:88408000-88413200	Active TSS	HUES48 Cell Line	embryonic stem cell
16	chr6:88408200-88413000	Active TSS	iPS-20b Cell Line	embryonic stem cell
17	chr6:88408200-88413000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr6:88408200-88413000	Active TSS	NHLF	lung
19	chr6:88408200-88413200	Active TSS	HUES6 Cell Line	embryonic stem cell
20	chr6:88408200-88413200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr6:88408400-88413000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr6:88408400-88413000	Active TSS	Fetal Kidney	kidney
23	chr6:88408400-88413000	Active TSS	Rectal Smooth Muscle	rectum
24	chr6:88408400-88413000	Active TSS	NHEK	skin
25	chr6:88408400-88413200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr6:88408400-88413200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr6:88408600-88413000	Active TSS	Brain Anterior Caudate	brain
28	chr6:88408600-88413200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr6:88409400-88413000	Active TSS	iPS-18 Cell Line	embryonic stem cell
30	chr6:88409800-88413000	Active TSS	Brain Inferior Temporal Lobe	brain
31	chr6:88409800-88413000	Active TSS	Rectal Mucosa Donor 29	rectum
32	chr6:88410600-88413000	Active TSS	ES-I3 Cell Line	embryonic stem cell
33	chr6:88410600-88413000	Active TSS	K562	blood
34	chr6:88411000-88413200	Active TSS	HepG2	liver
35	chr6:88411400-88413200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr6:88411600-88413200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr6:88411800-88413000	Active TSS	Brain Germinal Matrix	brain
38	chr6:88411800-88413200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr6:88411800-88413200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr6:88412000-88413000	Active TSS	Right Atrium	heart
41	chr6:88412400-88413000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
42	chr6:88412400-88413000	Flanking Active TSS	Primary B cells from cord blood	blood
43	chr6:88412400-88413000	Flanking Active TSS	Duodenum Mucosa	Duodenum
44	chr6:88412400-88413000	Flanking Active TSS	Dnd41	blood
45	chr6:88412400-88413000	Flanking Active TSS	HUVEC	blood vessel
46	chr6:88412400-88413000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
47	chr6:88412400-88413200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr6:88412600-88413000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr6:88412600-88413000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
50	chr6:88412600-88413000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain

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