Variant report

Variant	rs992160
Chromosome Location	chr6:44354641-44354642
allele	C/T
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	MYC	chr6:44354411-44354879	MCF10A-Er-Src	breast:	n/a	n/a
2	TBP	chr6:44354457-44355612	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr6:44354562-44355907	H1-neurons	neurons:	n/a	n/a
4	UBTF	chr6:44354625-44354825	K562	blood:	n/a	n/a
5	CBX3	chr6:44354427-44356105	K562	blood:	n/a	n/a
6	PML	chr6:44354617-44355868	K562	blood:	n/a	n/a
7	FOS	chr6:44354357-44355416	MCF10A-Er-Src	breast:	n/a	chr6:44354549-44354556 chr6:44355190-44355199
8	CREB1	chr6:44354419-44355909	K562	blood:	n/a	chr6:44355794-44355807 chr6:44355188-44355201
9	CEBPB	chr6:44354456-44355567	IMR90	lung:	n/a	chr6:44354724-44354737 chr6:44354724-44354735
10	E2F4	chr6:44354465-44355818	MCF10A-Er-Src	breast:	n/a	chr6:44355613-44355627 chr6:44355429-44355438 chr6:44355617-44355624 chr6:44355797-44355806 chr6:44355191-44355200 chr6:44355189-44355198 chr6:44355659-44355668 chr6:44355617-44355624 chr6:44355616-44355625 chr6:44355615-44355626 chr6:44355617-44355624 chr6:44355616-44355628
11	MAFK	chr6:44354559-44355675	Hela-S3	cervix:	n/a	chr6:44355464-44355479
12	CHD2	chr6:44354538-44355891	Hela-S3	cervix:	n/a	chr6:44355391-44355400 chr6:44355245-44355254
13	STAT3	chr6:44354355-44355315	MCF10A-Er-Src	breast:	n/a	chr6:44355076-44355084
14	STAT3	chr6:44354467-44354875	MCF10A-Er-Src	breast:	n/a	n/a
15	POLR2A	chr6:44354464-44356359	MCF10A-Er-Src	breast:	n/a	n/a
16	GTF2F1	chr6:44354519-44355642	Hela-S3	cervix:	n/a	n/a
17	MYC	chr6:44354583-44355712	MCF10A-Er-Src	breast:	n/a	chr6:44355415-44355425
18	CEBPB	chr6:44354516-44355688	K562	blood:	n/a	chr6:44354724-44354737 chr6:44354724-44354735
19	POLR2A	chr6:44354507-44355952	HepG2	liver:	n/a	n/a
20	MXI1	chr6:44354596-44355870	Hela-S3	cervix:	n/a	n/a
21	FOS	chr6:44354391-44355390	MCF10A-Er-Src	breast:	n/a	chr6:44354549-44354556 chr6:44355190-44355199
22	ATF1	chr6:44354462-44355588	K562	blood:	n/a	n/a
23	STAT3	chr6:44354452-44355142	MCF10A-Er-Src	breast:	n/a	chr6:44355076-44355084
24	JUND	chr6:44354533-44355547	Hela-S3	cervix:	n/a	chr6:44354549-44354556 chr6:44355190-44355199
25	WRNIP1	chr6:44354603-44356252	GM12878	blood:	n/a	n/a
26	MTA3	chr6:44354612-44356396	GM12878	blood:	n/a	n/a
27	IRF1	chr6:44354623-44356186	K562	blood:	n/a	n/a
28	REST	chr6:44354337-44356002	H1-neurons	neurons:	n/a	chr6:44355333-44355351 chr6:44355722-44355732
29	POLR2A	chr6:44354584-44355772	HUVEC	blood vessel:	n/a	n/a
30	POLR2A	chr6:44354582-44355742	SK-N-MC	brain:	n/a	n/a
31	FOS	chr6:44354392-44355423	MCF10A-Er-Src	breast:	n/a	chr6:44354549-44354556 chr6:44355190-44355199
32	RFX5	chr6:44354615-44355857	Hela-S3	cervix:	n/a	n/a
33	CEBPB	chr6:44354397-44355808	Hela-S3	cervix:	n/a	chr6:44354724-44354737 chr6:44354724-44354735
34	POLR2A	chr6:44354573-44355801	GM12891	blood:	n/a	n/a
35	STAT3	chr6:44354421-44354997	MCF10A-Er-Src	breast:	n/a	n/a
36	CREB1	chr6:44354625-44355512	ECC-1	luminal epithelium:	n/a	chr6:44355188-44355201
37	CEBPB	chr6:44354544-44355685	HepG2	liver:	n/a	chr6:44354724-44354737 chr6:44354724-44354735
38	MBD4	chr6:44354606-44356275	HepG2	liver:	n/a	n/a
39	KAP1	chr6:44354629-44355856	U2OS	brain:	n/a	n/a
40	RCOR1	chr6:44354435-44355852	Hela-S3	cervix:	n/a	n/a
41	CHD2	chr6:44354615-44356092	K562	blood:	n/a	chr6:44355391-44355400 chr6:44355245-44355254
42	JUND	chr6:44354589-44356161	K562	blood:	n/a	chr6:44355796-44355805 chr6:44355190-44355199
43	CREB1	chr6:44354624-44355897	H1-hESC	embryonic stem cell:	n/a	chr6:44355794-44355807 chr6:44355188-44355201
44	FOS	chr6:44354404-44354918	MCF10A-Er-Src	breast:	n/a	chr6:44354549-44354556
45	BRCA1	chr6:44354504-44355790	Hela-S3	cervix:	n/a	chr6:44355391-44355400 chr6:44355245-44355254
46	KAP1	chr6:44354556-44355519	K562	blood:	n/a	n/a
47	CEBPB	chr6:44354490-44355625	K562	blood:	n/a	chr6:44354724-44354737 chr6:44354724-44354735
48	CEBPB	chr6:44354455-44355599	A549	lung:	n/a	chr6:44354724-44354737 chr6:44354724-44354735
49	NR2F2	chr6:44354609-44356157	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:44354618..44355305-chr7:150065512..150066433,2	NB4	blood:
2	chr6:44220564..44222715-chr6:44354509..44356656,2	MCF-7	breast:
3	chr6:44213880..44217687-chr6:44354177..44357164,5	K562	blood:
4	chr6:44097271..44099374-chr6:44352380..44355163,2	K562	blood:
5	chr6:44350111..44351913-chr6:44352677..44355083,2	MCF-7	breast:
6	chr6:44233082..44237547-chr6:44353791..44357282,5	MCF-7	breast:
7	chr6:44231291..44234957-chr6:44353668..44356659,3	K562	blood:
8	chr6:44279579..44281700-chr6:44353800..44356317,2	K562	blood:

Variant related genes	Relation type
CDC5L	TF binding region
ENSG00000146232	Chromatin interaction
ENSG00000124608	Chromatin interaction
ENSG00000265700	Chromatin interaction
ENSG00000096384	Chromatin interaction
ENSG00000196456	Chromatin interaction
ENSG00000214022	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10484624	1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap]
rs11571889	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11571893	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11571905	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11571939	1.00[CHB][hapmap]
rs11571999	1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap]
rs11572021	1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap]
rs16871891	1.00[CHB][hapmap]
rs16871894	1.00[CHB][hapmap]
rs2233436	1.00[TSI][hapmap]
rs9381320	1.00[TSI][hapmap]

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	nsv1019145	chr6:44313576-44421440	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers 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 miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:44350800-44354800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr6:44352000-44354800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr6:44354200-44354800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr6:44354200-44355000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
5	chr6:44354200-44355000	Flanking Active TSS	Dnd41	blood
6	chr6:44354200-44355000	Flanking Active TSS	K562	blood
7	chr6:44354200-44355000	Flanking Active TSS	Osteobl	bone
8	chr6:44354200-44355200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr6:44354400-44354800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
10	chr6:44354400-44354800	Flanking Active TSS	Colon Smooth Muscle	Colon
11	chr6:44354400-44354800	Active TSS	Duodenum Smooth Muscle	Duodenum
12	chr6:44354400-44354800	Weak transcription	Lung	lung
13	chr6:44354400-44355000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr6:44354400-44355000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
15	chr6:44354400-44355000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
16	chr6:44354400-44355000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr6:44354400-44355000	Flanking Active TSS	Liver	Liver
18	chr6:44354400-44355000	Flanking Active TSS	Brain Angular Gyrus	brain
19	chr6:44354400-44355000	Flanking Active TSS	Brain Anterior Caudate	brain
20	chr6:44354400-44355000	Flanking Active TSS	Brain Cingulate Gyrus	brain
21	chr6:44354400-44355000	Flanking Active TSS	Duodenum Mucosa	Duodenum
22	chr6:44354400-44355000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
23	chr6:44354400-44355000	Flanking Active TSS	Rectal Smooth Muscle	rectum
24	chr6:44354400-44355000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
25	chr6:44354400-44355000	Flanking Active TSS	Hela-S3	cervix
26	chr6:44354400-44355000	Flanking Active TSS	HMEC	breast
27	chr6:44354400-44355000	Flanking Active TSS	HSMMtube	muscle
28	chr6:44354400-44355000	Flanking Active TSS	HUVEC	blood vessel
29	chr6:44354400-44355000	Flanking Active TSS	NH-A	brain
30	chr6:44354400-44355000	Flanking Active TSS	NHDF-Ad	bronchial
31	chr6:44354400-44355000	Flanking Active TSS	NHEK	skin
32	chr6:44354400-44355200	Flanking Active TSS	Primary hematopoietic stem cells	blood
33	chr6:44354400-44355200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
34	chr6:44354400-44355200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr6:44354400-44355200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr6:44354400-44355200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
37	chr6:44354400-44356000	Active TSS	Colonic Mucosa	Colon
38	chr6:44354400-44356000	Active TSS	Pancreas	Pancrea
39	chr6:44354400-44356200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr6:44354400-44356200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr6:44354400-44356200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr6:44354400-44356400	Active TSS	Brain Germinal Matrix	brain
43	chr6:44354400-44356600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr6:44354400-44356600	Active TSS	Breast Myoepithelial Primary Cells	Breast
45	chr6:44354400-44356600	Active TSS	Fetal Muscle Trunk	muscle
46	chr6:44354400-44356600	Active TSS	Stomach Smooth Muscle	stomach
47	chr6:44354400-44356800	Active TSS	HUES6 Cell Line	embryonic stem cell
48	chr6:44354400-44356800	Active TSS	Fetal Brain Female	brain
49	chr6:44354400-44356800	Active TSS	Psoas Muscle	Psoas
50	chr6:44354400-44357000	Active TSS	H1 Cell Line	embryonic stem cell

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