Variant report

Variant	rs67446678
Chromosome Location	chr11:68227466-68227467
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	ZNF143	chr11:68227414-68228170	Hela-S3	cervix:	n/a	chr11:68228134-68228144
2	TBL1XR1	chr11:68227440-68228010	GM12878	blood:	n/a	n/a
3	CREB1	chr11:68227248-68228611	K562	blood:	n/a	n/a
4	USF1	chr11:68227334-68227807	A549	lung:	n/a	n/a
5	GATA3	chr11:68227305-68228493	A549	lung:	n/a	chr11:68227823-68227831
6	ELK4	chr11:68227426-68228000	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr11:68227283-68228599	HUVEC	blood vessel:	n/a	n/a
8	PML	chr11:68227283-68227910	K562	blood:	n/a	n/a
9	MAZ	chr11:68227427-68228495	HepG2	liver:	n/a	chr11:68228174-68228184
10	CREB1	chr11:68227347-68227977	ECC-1	luminal epithelium:	n/a	n/a
11	MAX	chr11:68227234-68228678	A549	lung:	n/a	chr11:68228174-68228184
12	GABPA	chr11:68227305-68228099	A549	lung:	n/a	n/a
13	YY1	chr11:68227357-68228575	SK-N-SH_RA	brain:	n/a	chr11:68228177-68228186 chr11:68228209-68228219 chr11:68228212-68228220 chr11:68228209-68228219 chr11:68228325-68228334 chr11:68228207-68228226 chr11:68228137-68228148 chr11:68228505-68228519 chr11:68228209-68228231 chr11:68228416-68228427 chr11:68228130-68228139 chr11:68228127-68228141
14	TBL1XR1	chr11:68227362-68227992	K562	blood:	n/a	n/a
15	TEAD4	chr11:68227464-68228168	H1-hESC	embryonic stem cell:	n/a	n/a
16	PML	chr11:68227325-68227880	K562	blood:	n/a	n/a
17	GTF2F1	chr11:68227396-68228014	K562	blood:	n/a	n/a
18	UBTF	chr11:68227314-68227927	K562	blood:	n/a	n/a
19	POLR3G	chr11:68227420-68227827	K562	blood:	n/a	n/a
20	YY1	chr11:68227301-68228806	K562	blood:	n/a	chr11:68228177-68228186 chr11:68228209-68228219 chr11:68228212-68228220 chr11:68228209-68228219 chr11:68228325-68228334 chr11:68228590-68228601 chr11:68228207-68228226 chr11:68228769-68228785 chr11:68228137-68228148 chr11:68228505-68228519 chr11:68228209-68228231 chr11:68228416-68228427 chr11:68228130-68228139 chr11:68228127-68228141
21	IRF3	chr11:68227428-68228244	GM12878	blood:	n/a	chr11:68228149-68228158 chr11:68228135-68228149 chr11:68228129-68228143
22	MAX	chr11:68227223-68228125	K562	blood:	n/a	n/a
23	MYC	chr11:68227454-68228589	NB4	blood:	n/a	chr11:68228174-68228184
24	ETS1	chr11:68227448-68227885	GM12878	blood:	n/a	n/a
25	CREB1	chr11:68227359-68228643	H1-hESC	embryonic stem cell:	n/a	n/a
26	EP300	chr11:68227385-68228165	HepG2	liver:	n/a	chr11:68228121-68228137
27	REST	chr11:68227393-68227678	K562	blood:	n/a	n/a
28	HDAC2	chr11:68227309-68227811	K562	blood:	n/a	n/a
29	HDAC2	chr11:68227429-68227706	K562	blood:	n/a	n/a
30	FOS	chr11:68227422-68228174	MCF10A-Er-Src	breast:	n/a	chr11:68228045-68228054 chr11:68228112-68228121
31	NFATC1	chr11:68227303-68227793	GM12878	blood:	n/a	n/a
32	TAL1	chr11:68227417-68227893	K562	blood:	n/a	n/a
33	E2F4	chr11:68227448-68228545	MCF10A-Er-Src	breast:	n/a	chr11:68228251-68228258 chr11:68228095-68228107 chr11:68228149-68228158 chr11:68228130-68228139 chr11:68228250-68228258 chr11:68227706-68227716 chr11:68228134-68228144 chr11:68228251-68228258 chr11:68228251-68228258 chr11:68228250-68228259 chr11:68228455-68228464 chr11:68228174-68228183
34	EP300	chr11:68227337-68227859	HepG2	liver:	n/a	n/a
35	GABPA	chr11:68227335-68227814	H1-hESC	embryonic stem cell:	n/a	n/a
36	YY1	chr11:68227374-68228625	ECC-1	luminal epithelium:	n/a	chr11:68228177-68228186 chr11:68228209-68228219 chr11:68228212-68228220 chr11:68228209-68228219 chr11:68228325-68228334 chr11:68228590-68228601 chr11:68228207-68228226 chr11:68228137-68228148 chr11:68228505-68228519 chr11:68228209-68228231 chr11:68228416-68228427 chr11:68228130-68228139 chr11:68228127-68228141
37	TEAD4	chr11:68227308-68228606	SK-N-SH	brain:	n/a	n/a
38	ZNF274	chr11:68227412-68227770	K562	blood:	n/a	n/a
39	NR2F2	chr11:68227240-68228035	MCF-7	breast:	n/a	n/a
40	ZBTB33	chr11:68227321-68227878	A549	lung:	n/a	n/a
41	NR2F2	chr11:68227323-68227972	MCF-7	breast:	n/a	n/a
42	EP300	chr11:68227427-68228159	SK-N-SH_RA	brain:	n/a	chr11:68228121-68228137
43	SP1	chr11:68227360-68228292	H1-hESC	embryonic stem cell:	n/a	chr11:68228173-68228185 chr11:68228130-68228139 chr11:68228129-68228141 chr11:68228130-68228140 chr11:68228126-68228140 chr11:68228129-68228141 chr11:68228131-68228140 chr11:68228091-68228105 chr11:68228095-68228104
44	EP300	chr11:68227338-68228036	K562	blood:	n/a	n/a
45	POLR2A	chr11:68227391-68228095	K562	blood:	n/a	n/a
46	SP1	chr11:68227423-68228359	K562	blood:	n/a	chr11:68228173-68228185 chr11:68228130-68228139 chr11:68228129-68228141 chr11:68228130-68228140 chr11:68228126-68228140 chr11:68228129-68228141 chr11:68228131-68228140 chr11:68228091-68228105 chr11:68228095-68228104
47	ATF2	chr11:68227295-68227982	GM12878	blood:	n/a	chr11:68227723-68227737
48	NFIC	chr11:68227371-68228016	GM12878	blood:	n/a	n/a
49	KAP1	chr11:68227241-68227842	U2OS	brain:	n/a	n/a
50	E2F4	chr11:68227441-68227986	GM12878	blood:	n/a	chr11:68227706-68227716

No.	Distal block	Cell Line	Cell type
1	chr11:68216085..68219220-chr11:68223663..68227582,3	K562	blood:
2	chr11:68226828..68228925-chr11:68351073..68354033,2	MCF-7	breast:
3	chr11:68214438..68216560-chr11:68227072..68229013,2	MCF-7	breast:
4	chr11:68037779..68041095-chr11:68226347..68229664,3	MCF-7	breast:
5	chr11:68226594..68228620-chr20:55838863..55841808,2	MCF-7	breast:
6	chr11:67979114..67981303-chr11:68226653..68229689,3	MCF-7	breast:
7	chr11:67979628..67982546-chr11:68226210..68228969,2	K562	blood:

Variant related genes	Relation type
PPP6R3	TF binding region
ENSG00000171067	Chromatin interaction
ENSG00000101144	Chromatin interaction
ENSG00000110075	Chromatin interaction
ENSG00000162337	Chromatin interaction
ENSG00000110066	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10047412	0.83[ASN][1000 genomes]
rs10047482	0.85[ASN][1000 genomes]
rs10047483	0.85[ASN][1000 genomes]
rs12286536	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12360903	0.81[ASN][1000 genomes]
rs12363722	0.81[ASN][1000 genomes]
rs17149179	0.81[AMR][1000 genomes]
rs2186937	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2375639	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2375640	0.97[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3867143	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55975204	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56154705	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs56312530	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57502260	0.97[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61391279	0.81[ASN][1000 genomes]
rs7104806	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7105218	0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7106320	0.82[EUR][1000 genomes]
rs7106339	0.81[ASN][1000 genomes]
rs72936524	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72936570	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72936599	0.86[AMR][1000 genomes]
rs73516838	0.81[ASN][1000 genomes]
rs7935347	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897857	chr11:68056770-68231240	Enhancers Genic enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	nsv897858	chr11:68077238-68293545	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv897859	chr11:68102000-68231240	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv897860	chr11:68102000-68293545	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv1047532	chr11:68103330-68239242	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv541082	chr11:68103330-68239242	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv1036561	chr11:68123135-68315685	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	nsv897862	chr11:68129606-68236389	Strong transcription Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	nsv555285	chr11:68144283-68231240	Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	nsv468618	chr11:68171013-68231240	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
11	nsv897863	chr11:68186392-68251460	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
12	esv1792339	chr11:68199008-68299226	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
13	esv1803199	chr11:68199008-68299226	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
14	esv1842405	chr11:68199008-68299226	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
15	esv1800066	chr11:68217420-68228586	Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
16	esv3378525	chr11:68226901-68229749	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:68223400-68227800	Weak transcription	Small Intestine	intestine
2	chr11:68226800-68227600	Flanking Active TSS	Placenta	Placenta
3	chr11:68226800-68227600	Enhancers	Right Ventricle	heart
4	chr11:68226800-68230200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr11:68227000-68227600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr11:68227000-68227600	Flanking Active TSS	Colonic Mucosa	Colon
7	chr11:68227000-68229000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr11:68227000-68229200	Active TSS	H1 Cell Line	embryonic stem cell
9	chr11:68227000-68229200	Active TSS	HUES48 Cell Line	embryonic stem cell
10	chr11:68227000-68229200	Active TSS	Rectal Smooth Muscle	rectum
11	chr11:68227000-68229400	Active TSS	HUES6 Cell Line	embryonic stem cell
12	chr11:68227000-68229400	Active TSS	HUES64 Cell Line	embryonic stem cell
13	chr11:68227000-68229400	Active TSS	iPS-20b Cell Line	embryonic stem cell
14	chr11:68227000-68229400	Active TSS	Brain Anterior Caudate	brain
15	chr11:68227000-68230200	Active TSS	ES-I3 Cell Line	embryonic stem cell
16	chr11:68227200-68227600	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr11:68227200-68227600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
18	chr11:68227200-68227600	Flanking Active TSS	Primary B cells from cord blood	blood
19	chr11:68227200-68227600	Flanking Active TSS	Primary B cells from peripheral blood	blood
20	chr11:68227200-68227600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
21	chr11:68227200-68227600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
22	chr11:68227200-68227600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
23	chr11:68227200-68227600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
24	chr11:68227200-68227600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
25	chr11:68227200-68227600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
26	chr11:68227200-68227600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
27	chr11:68227200-68227600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr11:68227200-68227600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr11:68227200-68227600	Flanking Active TSS	Brain Germinal Matrix	brain
30	chr11:68227200-68227600	Flanking Active TSS	Duodenum Mucosa	Duodenum
31	chr11:68227200-68227600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
32	chr11:68227200-68227600	Flanking Active TSS	Fetal Intestine Large	intestine
33	chr11:68227200-68227600	Flanking Active TSS	Fetal Lung	lung
34	chr11:68227200-68227600	Flanking Active TSS	Fetal Muscle Trunk	muscle
35	chr11:68227200-68227600	Flanking Active TSS	Fetal Thymus	thymus
36	chr11:68227200-68227600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
37	chr11:68227200-68227600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
38	chr11:68227200-68227600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
39	chr11:68227200-68227600	Flanking Active TSS	Dnd41	blood
40	chr11:68227200-68227600	Flanking Active TSS	GM12878-XiMat	blood
41	chr11:68227200-68227600	Flanking Active TSS	Hela-S3	cervix
42	chr11:68227200-68227600	Flanking Active TSS	K562	blood
43	chr11:68227200-68227600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
44	chr11:68227200-68227800	Flanking Active TSS	Adipose Nuclei	Adipose
45	chr11:68227200-68227800	Enhancers	Spleen	Spleen
46	chr11:68227200-68228200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr11:68227200-68229000	Active TSS	Primary T cells from cord blood	blood
48	chr11:68227200-68229000	Active TSS	Primary hematopoietic stem cells	blood
49	chr11:68227200-68229000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr11:68227200-68229000	Active TSS	Cortex derived primary cultured neurospheres	brain

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