Variant report

Variant	rs73427012
Chromosome Location	chr11:4208302-4208303
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:263)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:263 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr11:4208240-4208390	BJ	skin:	n/a	n/a
2	CTCF	chr11:4208260-4208410	NHLF	lung:	n/a	n/a
3	CTCF	chr11:4208240-4208390	GM12865	blood:	n/a	n/a
4	RAD21	chr11:4208214-4208433	SK-N-SH_RA	brain:	n/a	chr11:4208414-4208424
5	CTCF	chr11:4208240-4208390	HepG2	liver:	n/a	n/a
6	MAFK	chr11:4208084-4208422	Hela-S3	cervix:	n/a	n/a
7	MAZ	chr11:4208128-4209796	IMR90	lung:	n/a	chr11:4208711-4208720 chr11:4208944-4208954
8	CTCF	chr11:4208219-4208464	GM10248	blood:	n/a	n/a
9	MXI1	chr11:4208189-4209026	H1-hESC	embryonic stem cell:	n/a	n/a
10	CTCF	chr11:4208175-4208535	K562	blood:	n/a	n/a
11	RAD21	chr11:4208187-4208437	K562	blood:	n/a	chr11:4208414-4208424
12	CTCF	chr11:4208260-4208410	HRPEpiC	eye:	n/a	n/a
13	POLR2A	chr11:4208134-4209125	H1-hESC	embryonic stem cell:	n/a	n/a
14	CTCF	chr11:4208240-4208390	HMF	breast:	n/a	n/a
15	CTCF	chr11:4208280-4208430	HUVEC	blood vessel:	n/a	n/a
16	CTCF	chr11:4208260-4208410	AG04450	lung:	n/a	n/a
17	RCOR1	chr11:4207934-4208527	K562	blood:	n/a	n/a
18	CTCF	chr11:4208260-4208410	Caco-2	colon:	n/a	n/a
19	YY1	chr11:4208252-4208518	SK-N-SH	brain:	n/a	chr11:4208444-4208455
20	CTCF	chr11:4208198-4208464	MCF-7	breast:	n/a	n/a
21	CTCF	chr11:4208209-4208463	ProgFib	skin:	n/a	n/a
22	RAD21	chr11:4208133-4209384	HCT-116	colon:	n/a	chr11:4208949-4208968 chr11:4208652-4208662 chr11:4208414-4208424
23	CTCF	chr11:4208206-4208473	MCF-7	breast:	n/a	n/a
24	CTCF	chr11:4208220-4208370	HCM	heart:	n/a	n/a
25	CHD2	chr11:4208132-4209127	Hela-S3	cervix:	n/a	n/a
26	E2F6	chr11:4208234-4209115	H1-hESC	embryonic stem cell:	n/a	chr11:4209063-4209073 chr11:4208646-4208656 chr11:4208327-4208342
27	CTCF	chr11:4208300-4208450	HFF	foreskin:	n/a	n/a
28	CEBPB	chr11:4208020-4208479	Hela-S3	cervix:	n/a	n/a
29	CTCF	chr11:4208280-4208430	HEEpiC	esophagus:	n/a	n/a
30	CTCF	chr11:4208280-4208430	HCT-116	colon:	n/a	n/a
31	RAD21	chr11:4208043-4209308	A549	lung:	n/a	chr11:4208949-4208968 chr11:4208652-4208662 chr11:4208414-4208424
32	CTCF	chr11:4208260-4208410	GM12874	blood:	n/a	n/a
33	CTCF	chr11:4208220-4208370	NB4	blood:	n/a	n/a
34	CTCF	chr11:4208240-4208390	GM12868	blood:	n/a	n/a
35	CTCF	chr11:4208187-4209155	GM12892	blood:	n/a	chr11:4208948-4208966
36	TBP	chr11:4208182-4209135	H1-hESC	embryonic stem cell:	n/a	n/a
37	CEBPB	chr11:4208295-4208391	K562	blood:	n/a	n/a
38	STAT1	chr11:4208264-4208331	GM12878	blood:	n/a	n/a
39	CTCFL	chr11:4208242-4208439	K562	blood:	n/a	n/a
40	CTCF	chr11:4208174-4209285	K562	blood:	n/a	chr11:4208948-4208966
41	CTCF	chr11:4208220-4208370	AG09319	gingival:	n/a	n/a
42	ZC3H11A	chr11:4208122-4208441	K562	blood:	n/a	n/a
43	TFAP2C	chr11:4208055-4209086	Hela-S3	cervix:	n/a	n/a
44	TAF1	chr11:4208245-4208557	A549	lung:	n/a	n/a
45	CTCF	chr11:4208260-4208410	SK-N-SH_RA	brain:	n/a	n/a
46	CTCF	chr11:4208190-4208530	K562	blood:	n/a	n/a
47	ZNF263	chr11:4207891-4209137	HEK293-T-REx	kidney:	n/a	n/a
48	CTCF	chr11:4208260-4208410	AG09309	skin:	n/a	n/a
49	RAD21	chr11:4208170-4208509	IMR90	lung:	n/a	chr11:4208414-4208424
50	YY1	chr11:4208209-4208519	HepG2	liver:	n/a	chr11:4208444-4208455

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:4208278-4208328	PrEC	prostate:	n/a
2	chr11:4208278-4208328	HUVEC	blood vessel:	n/a
3	chr11:4208278-4208328	ProgFib	skin:	n/a
4	chr11:4208278-4208328	SAEC	small airway:	n/a
5	chr11:4208278-4208328	IMR90	lung:	fetal
6	chr11:4208278-4208328	BE2_C	brain:	n/a
7	chr11:4208278-4208328	HepG2	liver:	n/a
8	chr11:4208278-4208328	HEEpiC	esophagus:	n/a
9	chr11:4208278-4208328	HNPCEpiC	eye:	n/a
10	chr11:4208278-4208328	MCF10A-Er-Src	breast:	n/a
11	chr11:4208278-4208328	K562	blood:	n/a
12	chr11:4208278-4208328	HRPEpiC	eye:	n/a
13	chr11:4208278-4208328	BJ	skin:	n/a
14	chr11:4208278-4208328	HCPEpiC	choroid plexus:	n/a
15	chr11:4208278-4208328	AG04450	lung:	fetal
16	chr11:4208278-4208328	AG04449	skin:	fetal
17	chr11:4208278-4208328	Hepatocyte	liver:	n/a
18	chr11:4208278-4208328	T-47D	breast:	n/a
19	chr11:4208278-4208328	HRE	kidney:	n/a
20	chr11:4208278-4208328	HEK293	kidney:	embryo
21	chr11:4208278-4208328	SK-N-SH	brain:	n/a
22	chr11:4208278-4208328	H1-hESC	embryonic stem cell:	embryo
23	chr11:4208278-4208328	AG09309	skin:	n/a
24	chr11:4208278-4208328	AoSMC	blood vessel:	n/a
25	chr11:4208278-4208328	U87	brain:	n/a
26	chr11:4208278-4208328	NHDF-neo	bronchial:	n/a
27	chr11:4208278-4208328	SK-N-MC	brain:	n/a
28	chr11:4208278-4208328	Jurkat	blood:	n/a
29	chr11:4208278-4208328	GM12891	blood:	n/a
30	chr11:4208278-4208328	MCF-7	breast:	n/a
31	chr11:4208278-4208328	HRCEpiC	kidney:	n/a
32	chr11:4208278-4208328	AG10803	skin:	n/a
33	chr11:4208278-4208328	CMK	blood:	n/a
34	chr11:4208278-4208328	ECC-1	luminal epithelium:	n/a
35	chr11:4208278-4208328	HCM	heart:	n/a
36	chr11:4208278-4208328	SKMC	muscle:	n/a
37	chr11:4208278-4208328	AG09319	gingival:	n/a
38	chr11:4208278-4208328	HCT-116	colon:	n/a
39	chr11:4208278-4208328	LNCaP	prostate:	n/a
40	chr11:4208278-4208328	GM19239	blood:	n/a
41	chr11:4208278-4208328	GM12892	blood:	n/a
42	chr11:4208278-4208328	A549	lung:	n/a
43	chr11:4208278-4208328	Hela-S3	cervix:	n/a
44	chr11:4208278-4208328	HAEpiC	amniotic membrane:	n/a
45	chr11:4208278-4208328	HIPEpiC	eye:	n/a
46	chr11:4208278-4208328	GM12878	blood:	n/a
47	chr11:4208278-4208328	PFSK-1	brain:	n/a
48	chr11:4208278-4208328	NHBE	bronchial:	n/a
49	chr11:4208278-4208328	RPTEC	kidney:	n/a
50	chr11:4208278-4208328	HPAEpiC	pulmonary alveolar:	n/a

No data

Variant related genes	Relation type
ENSG00000254480	TF binding region
ENSG00000254480	CpG island

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

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs56144880	0.97[AFR][1000 genomes]
rs59649846	0.90[AFR][1000 genomes]
rs73425009	0.81[AFR][1000 genomes]
rs73425015	0.88[AFR][1000 genomes]
rs73425017	0.91[AFR][1000 genomes]
rs73427008	1.00[AFR][1000 genomes]
rs73427039	0.97[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758253	chr11:4055945-4510188	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers 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	38 gene(s)	inside rSNPs	diseases
2	esv2759797	chr11:4055945-4510188	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
3	nsv428248	chr11:4055945-4510188	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
4	nsv832053	chr11:4096527-4330263	Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv1053189	chr11:4123119-4359044	Strong transcription Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv1048590	chr11:4133055-4225100	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv540911	chr11:4133055-4225100	Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv1053482	chr11:4138062-4276133	Strong transcription Flanking Active TSS Genic enhancers Active TSS Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	esv3380413	chr11:4159374-4323846	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv8777	chr11:4159953-4387268	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
11	nsv1045527	chr11:4162019-4225100	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	esv34983	chr11:4162474-4325792	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
13	esv2757417	chr11:4162477-4325792	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
14	nsv818795	chr11:4167416-4238930	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
15	nsv467662	chr11:4185595-4272343	Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
16	nsv553151	chr11:4185595-4272343	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
17	nsv469627	chr11:4186981-4336490	Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
18	nsv482725	chr11:4186981-4336490	Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
19	nsv428799	chr11:4186981-4336490	Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
20	nsv471670	chr11:4186982-4336490	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
21	nsv467663	chr11:4188188-4238930	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
22	nsv553152	chr11:4188188-4238930	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
23	nsv469932	chr11:4200169-4272343	Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
24	esv3426224	chr11:4207601-4210149	Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:4205800-4209000	Weak transcription	Fetal Lung	lung
2	chr11:4206800-4209200	Weak transcription	Fetal Heart	heart
3	chr11:4208000-4208400	Flanking Active TSS	Hela-S3	cervix
4	chr11:4208000-4208600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr11:4208000-4209000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr11:4208000-4209200	Active TSS	HUES48 Cell Line	embryonic stem cell
7	chr11:4208000-4209200	Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr11:4208000-4209200	Active TSS	HUES64 Cell Line	embryonic stem cell
9	chr11:4208000-4209200	Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr11:4208000-4209200	Active TSS	iPS-18 Cell Line	embryonic stem cell
11	chr11:4208000-4209200	Active TSS	iPS-20b Cell Line	embryonic stem cell
12	chr11:4208000-4209200	Active TSS	K562	blood
13	chr11:4208000-4209400	Active TSS	H1 Cell Line	embryonic stem cell
14	chr11:4208000-4209400	Active TSS	A549	lung
15	chr11:4208000-4209600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr11:4208200-4208400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr11:4208200-4208400	Enhancers	Primary neutrophils fromperipheralblood	blood
18	chr11:4208200-4208400	Enhancers	Primary B cells from cord blood	blood
19	chr11:4208200-4208400	Active TSS	Primary hematopoietic stem cells short term culture	blood
20	chr11:4208200-4208400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr11:4208200-4208400	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
22	chr11:4208200-4208400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr11:4208200-4208400	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
24	chr11:4208200-4208400	Active TSS	Adipose Nuclei	Adipose
25	chr11:4208200-4208400	Flanking Active TSS	Liver	Liver
26	chr11:4208200-4208400	Active TSS	Colonic Mucosa	Colon
27	chr11:4208200-4208400	Active TSS	Rectal Mucosa Donor 31	rectum
28	chr11:4208200-4208400	Active TSS	Right Ventricle	heart
29	chr11:4208200-4208400	Active TSS	Skeletal Muscle Female	skeletal muscle
30	chr11:4208200-4208400	Active TSS	GM12878-XiMat	blood
31	chr11:4208200-4208400	Active TSS	HMEC	breast
32	chr11:4208200-4208400	Active TSS	Monocytes-CD14+_RO01746	blood
33	chr11:4208200-4208600	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
34	chr11:4208200-4208600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
35	chr11:4208200-4208600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr11:4208200-4208600	Flanking Active TSS	Brain Germinal Matrix	brain
37	chr11:4208200-4208600	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
38	chr11:4208200-4208600	Flanking Active TSS	Fetal Muscle Trunk	muscle
39	chr11:4208200-4208600	Flanking Active TSS	HUVEC	blood vessel
40	chr11:4208200-4208800	Flanking Active TSS	Primary hematopoietic stem cells	blood
41	chr11:4208200-4208800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
42	chr11:4208200-4208800	Active TSS	Small Intestine	intestine
43	chr11:4208200-4208800	Active TSS	HepG2	liver
44	chr11:4208200-4209000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr11:4208200-4209000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr11:4208200-4209000	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr11:4208200-4209000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr11:4208200-4209000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr11:4208200-4209000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr11:4208200-4209000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell

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