Variant report

Variant	rs4944642
Chromosome Location	chr11:86667064-86667065
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:331)
CpG islands
(count:61)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:331 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZC3H11A	chr11:86666759-86667380	K562	blood:	n/a	n/a
2	FOSL2	chr11:86666652-86667434	A549	lung:	n/a	chr11:86667226-86667235
3	CEBPB	chr11:86666725-86667326	HepG2	liver:	n/a	chr11:86666922-86666933
4	CTCF	chr11:86667040-86667190	RPTEC	kidney:	n/a	n/a
5	POLR2A	chr11:86665827-86667368	K562	blood:	n/a	n/a
6	TBP	chr11:86666239-86667348	HepG2	liver:	n/a	n/a
7	ZNF143	chr11:86666330-86667602	H1-hESC	embryonic stem cell:	n/a	chr11:86666371-86666381 chr11:86666370-86666380
8	MYC	chr11:86666280-86667528	NB4	blood:	n/a	chr11:86666540-86666550 chr11:86667471-86667480
9	CTCF	chr11:86666980-86667130	HPF	lung:	n/a	n/a
10	CEBPB	chr11:86666642-86667388	ECC-1	luminal epithelium:	n/a	chr11:86666922-86666933
11	GTF2F1	chr11:86666785-86667238	H1-hESC	embryonic stem cell:	n/a	n/a
12	REST	chr11:86666646-86667398	HepG2	liver:	n/a	chr11:86667067-86667080 chr11:86667241-86667259
13	CTCF	chr11:86667040-86667190	HBMEC	blood vessel:	n/a	n/a
14	CTCF	chr11:86667040-86667190	AG04450	lung:	n/a	n/a
15	RAD21	chr11:86666798-86667668	H1-hESC	embryonic stem cell:	n/a	n/a
16	MAX	chr11:86665614-86667424	A549	lung:	n/a	chr11:86666540-86666550
17	CTCF	chr11:86666944-86667299	K562	blood:	n/a	n/a
18	POLR2A	chr11:86666196-86667251	IMR90	lung:	n/a	n/a
19	CTCF	chr11:86667000-86667150	HCT-116	colon:	n/a	n/a
20	SMC3	chr11:86666799-86667298	HepG2	liver:	n/a	n/a
21	CHD2	chr11:86665530-86667684	Hela-S3	cervix:	n/a	chr11:86667070-86667080 chr11:86666535-86666545
22	YY1	chr11:86666836-86667233	A549	lung:	n/a	chr11:86667072-86667081
23	HA-E2F1	chr11:86666685-86667424	MCF-7	breast:	n/a	chr11:86667260-86667269 chr11:86667069-86667081 chr11:86667072-86667081 chr11:86667171-86667182 chr11:86667316-86667328
24	POLR2A	chr11:86666918-86667218	H1-hESC	embryonic stem cell:	n/a	n/a
25	ELF1	chr11:86666963-86667259	K562	blood:	n/a	n/a
26	ZBTB7A	chr11:86666980-86667306	HepG2	liver:	n/a	n/a
27	SP1	chr11:86666658-86667338	H1-hESC	embryonic stem cell:	n/a	chr11:86667072-86667081 chr11:86667070-86667082 chr11:86667071-86667080 chr11:86667071-86667085 chr11:86667073-86667086 chr11:86667071-86667080 chr11:86667312-86667326
28	CEBPB	chr11:86666846-86667181	HepG2	liver:	n/a	chr11:86666922-86666933
29	ZBTB7A	chr11:86666959-86667452	K562	blood:	n/a	n/a
30	MYBL2	chr11:86666552-86667424	HepG2	liver:	n/a	n/a
31	HEY1	chr11:86666931-86667333	K562	blood:	n/a	n/a
32	CTCF	chr11:86667060-86667210	Caco-2	colon:	n/a	n/a
33	SP4	chr11:86666790-86667269	H1-hESC	embryonic stem cell:	n/a	n/a
34	POLR2A	chr11:86666101-86667545	H1-hESC	embryonic stem cell:	n/a	n/a
35	SIN3AK20	chr11:86666623-86667131	A549	lung:	n/a	n/a
36	NR2F2	chr11:86666628-86667475	K562	blood:	n/a	n/a
37	SMC3	chr11:86666838-86667224	K562	blood:	n/a	n/a
38	POLR2A	chr11:86666931-86667190	A549	lung:	n/a	n/a
39	CTCF	chr11:86667000-86667150	GM12872	blood:	n/a	n/a
40	CTCF	chr11:86667040-86667190	K562	blood:	n/a	n/a
41	FOXA2	chr11:86666625-86667181	A549	lung:	n/a	n/a
42	CTCF	chr11:86667020-86667170	SK-N-SH_RA	brain:	n/a	n/a
43	CEBPD	chr11:86666848-86667078	HepG2	liver:	n/a	n/a
44	CEBPB	chr11:86666735-86667350	IMR90	lung:	n/a	chr11:86666922-86666933
45	RCOR1	chr11:86666239-86667591	HepG2	liver:	n/a	n/a
46	CTCF	chr11:86667000-86667150	HCPEpiC	choroid plexus:	n/a	n/a
47	TBP	chr11:86666682-86667765	Hela-S3	cervix:	n/a	n/a
48	CTCF	chr11:86667000-86667150	NB4	blood:	n/a	n/a
49	POLR2A	chr11:86665375-86667540	HUVEC	blood vessel:	n/a	n/a
50	HCFC1	chr11:86666221-86667485	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:86667042-86667092	ovcar-3	ovarian:	n/a
2	chr11:86667042-86667092	AG04450	lung:	fetal
3	chr11:86667042-86667092	Hepatocyte	liver:	n/a
4	chr11:86667042-86667092	IMR90	lung:	fetal
5	chr11:86667042-86667092	PFSK-1	brain:	n/a
6	chr11:86667042-86667092	AG04449	skin:	fetal
7	chr11:86667042-86667092	HPAEpiC	pulmonary alveolar:	n/a
8	chr11:86667042-86667092	HCF	heart:	n/a
9	chr11:86667042-86667092	GM19239	blood:	n/a
10	chr11:86667042-86667092	HCPEpiC	choroid plexus:	n/a
11	chr11:86667042-86667092	LNCaP	prostate:	n/a
12	chr11:86667042-86667092	H1-hESC	embryonic stem cell:	embryo
13	chr11:86667042-86667092	SK-N-MC	brain:	n/a
14	chr11:86667042-86667092	NHDF-neo	bronchial:	n/a
15	chr11:86667042-86667092	T-47D	breast:	n/a
16	chr11:86667042-86667092	AG09319	gingival:	n/a
17	chr11:86667042-86667092	GM06990	blood:	n/a
18	chr11:86667042-86667092	HL-60	blood:	n/a
19	chr11:86667042-86667092	HMEC	breast:	n/a
20	chr11:86667042-86667092	AoSMC	blood vessel:	n/a
21	chr11:86667042-86667092	NB4	blood:	n/a
22	chr11:86667042-86667092	HRE	kidney:	n/a
23	chr11:86667042-86667092	K562	blood:	n/a
24	chr11:86667042-86667092	GM12892	blood:	n/a
25	chr11:86667042-86667092	ProgFib	skin:	n/a
26	chr11:86667042-86667092	BE2_C	brain:	n/a
27	chr11:86667042-86667092	HCM	heart:	n/a
28	chr11:86667042-86667092	Hela-S3	cervix:	n/a
29	chr11:86667042-86667092	CMK	blood:	n/a
30	chr11:86667042-86667092	MCF-7	breast:	n/a
31	chr11:86667042-86667092	GM12878	blood:	n/a
32	chr11:86667042-86667092	NH-A	brain:	n/a
33	chr11:86667042-86667092	HIPEpiC	eye:	n/a
34	chr11:86667042-86667092	HNPCEpiC	eye:	n/a
35	chr11:86667042-86667092	HAEpiC	amniotic membrane:	n/a
36	chr11:86667042-86667092	RPTEC	kidney:	n/a
37	chr11:86667042-86667092	SK-N-SH_RA	brain:	n/a
38	chr11:86667042-86667092	HepG2	liver:	n/a
39	chr11:86667042-86667092	PANC-1	pancreas:	n/a
40	chr11:86667042-86667092	HRPEpiC	eye:	n/a
41	chr11:86667042-86667092	NHBE	bronchial:	n/a
42	chr11:86667042-86667092	HCT-116	colon:	n/a
43	chr11:86667042-86667092	MCF10A-Er-Src	breast:	n/a
44	chr11:86667042-86667092	PrEC	prostate:	n/a
45	chr11:86667042-86667092	Caco-2	colon:	n/a
46	chr11:86667042-86667092	SKMC	muscle:	n/a
47	chr11:86667042-86667092	Jurkat	blood:	n/a
48	chr11:86667042-86667092	SAEC	small airway:	n/a
49	chr11:86667042-86667092	GM12891	blood:	n/a
50	chr11:86667042-86667092	SK-N-SH	brain:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:86664827..86670422-chr11:86747541..86750601,9	MCF-7	breast:
2	chr11:86666227..86667215-chr15:65588303..65589193,2	Hela-S3	cervix:
3	chr11:86648192..86652740-chr11:86665562..86667953,4	K562	blood:
4	chr11:86649897..86655027-chr11:86664913..86668349,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000246523	TF binding region
FZD4	TF binding region
FZD4	CpG island
ENSG00000246523	CpG island
ENSG00000166575	Chromatin interaction
ENSG00000199568	Chromatin interaction
ENSG00000150687	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs17149639	0.90[AMR][1000 genomes]
rs17758742	0.81[AMR][1000 genomes]
rs4943965	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4944644	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4944649	1.00[AMR][1000 genomes]
rs57561938	0.81[AMR][1000 genomes]
rs61735303	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61735304	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7106960	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7121504	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044081	chr11:86133641-86868560	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv541118	chr11:86133641-86868560	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	esv2756074	chr11:86456552-86729552	Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv1037042	chr11:86586876-86978492	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv541119	chr11:86586876-86978492	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
6	esv3325080	chr11:86664929-86667677	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	esv3331243	chr11:86665354-86668252	Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86663200-86667800	Active TSS	Right Ventricle	heart
2	chr11:86663400-86667400	Active TSS	Fetal Brain Female	brain
3	chr11:86663400-86667400	Active TSS	Left Ventricle	heart
4	chr11:86663400-86667600	Active TSS	Right Atrium	heart
5	chr11:86663400-86668000	Active TSS	Fetal Kidney	kidney
6	chr11:86663600-86667400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr11:86663600-86667400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr11:86663600-86667600	Active TSS	Psoas Muscle	Psoas
9	chr11:86663600-86667600	Active TSS	Rectal Smooth Muscle	rectum
10	chr11:86663600-86667800	Active TSS	Colon Smooth Muscle	Colon
11	chr11:86663600-86667800	Active TSS	Ovary	ovary
12	chr11:86663600-86668000	Active TSS	Aorta	Aorta
13	chr11:86663800-86667400	Active TSS	Fetal Stomach	stomach
14	chr11:86664000-86667800	Active TSS	Brain Anterior Caudate	brain
15	chr11:86664000-86667800	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr11:86664200-86667600	Active TSS	Brain Substantia Nigra	brain
17	chr11:86664200-86667600	Active TSS	Sigmoid Colon	Sigmoid Colon
18	chr11:86664200-86667800	Active TSS	Brain Inferior Temporal Lobe	brain
19	chr11:86664200-86667800	Active TSS	Rectal Mucosa Donor 31	rectum
20	chr11:86664400-86667400	Active TSS	Skeletal Muscle Male	skeletal muscle
21	chr11:86664400-86667800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr11:86664800-86667400	Active TSS	Esophagus	oesophagus
23	chr11:86665200-86667400	Active TSS	Brain Angular Gyrus	brain
24	chr11:86665200-86667600	Active TSS	Gastric	stomach
25	chr11:86665200-86667800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr11:86665400-86667200	Active TSS	Spleen	Spleen
27	chr11:86665400-86667400	Active TSS	Small Intestine	intestine
28	chr11:86665400-86667600	Active TSS	HSMMtube	muscle
29	chr11:86665400-86667800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
30	chr11:86665600-86667200	Active TSS	HepG2	liver
31	chr11:86665600-86667400	Active TSS	Fetal Lung	lung
32	chr11:86665600-86667600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr11:86665600-86667600	Active TSS	NHDF-Ad	bronchial
34	chr11:86665600-86667800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr11:86665600-86668000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr11:86665800-86667200	Active TSS	Fetal Muscle Trunk	muscle
37	chr11:86665800-86667400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr11:86665800-86667400	Active TSS	Brain Cingulate Gyrus	brain
39	chr11:86665800-86667400	Active TSS	Lung	lung
40	chr11:86665800-86667400	Active TSS	Placenta Amnion	Placenta Amnion
41	chr11:86665800-86667400	Active TSS	Skeletal Muscle Female	skeletal muscle
42	chr11:86665800-86667400	Active TSS	A549	lung
43	chr11:86665800-86667400	Active TSS	NHLF	lung
44	chr11:86665800-86667600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr11:86665800-86667600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
46	chr11:86665800-86667600	Active TSS	Stomach Mucosa	stomach
47	chr11:86665800-86667600	Active TSS	Hela-S3	cervix
48	chr11:86665800-86667800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr11:86665800-86667800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr11:86666000-86667200	Bivalent/Poised TSS	Primary monocytes fromperipheralblood	blood

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