Variant report

Variant	rs6483252
Chromosome Location	chr11:93277022-93277023
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	EGR1	chr11:93276288-93277107	HCT-116	colon:	n/a	chr11:93276538-93276547 chr11:93276634-93276644 chr11:93276658-93276671 chr11:93276300-93276313 chr11:93276655-93276669 chr11:93276658-93276671 chr11:93276657-93276672 chr11:93276634-93276647 chr11:93276717-93276727
2	SMC3	chr11:93276195-93277211	Hela-S3	cervix:	n/a	chr11:93276581-93276595
3	CTCF	chr11:93276940-93277090	NHEK	skin:	n/a	n/a
4	USF2	chr11:93276896-93277131	Hela-S3	cervix:	n/a	n/a
5	CTCF	chr11:93276920-93277070	AG10803	skin:	n/a	n/a
6	CTCF	chr11:93276920-93277070	HCPEpiC	choroid plexus:	n/a	n/a
7	RCOR1	chr11:93276415-93277038	GM12878	blood:	n/a	n/a
8	NR2F2	chr11:93276521-93277058	K562	blood:	n/a	n/a
9	POLR2A	chr11:93275588-93277036	H1-hESC	embryonic stem cell:	n/a	n/a
10	EGR1	chr11:93276439-93277070	HCT-116	colon:	n/a	chr11:93276538-93276547 chr11:93276634-93276644 chr11:93276658-93276671 chr11:93276655-93276669 chr11:93276658-93276671 chr11:93276657-93276672 chr11:93276634-93276647 chr11:93276717-93276727
11	CTCF	chr11:93276222-93277209	A549	lung:	n/a	chr11:93276581-93276594
12	MAX	chr11:93274940-93277201	NB4	blood:	n/a	chr11:93276658-93276668 chr11:93275298-93275307 chr11:93275297-93275306 chr11:93275890-93275900
13	POLR2A	chr11:93276420-93277115	Hela-S3	cervix:	n/a	n/a
14	MTA3	chr11:93276469-93277152	GM12878	blood:	n/a	n/a
15	HA-E2F1	chr11:93276498-93277135	MCF-7	breast:	n/a	chr11:93276654-93276666 chr11:93276634-93276644 chr11:93276498-93276508
16	MAFK	chr11:93276506-93277239	Hela-S3	cervix:	n/a	chr11:93277124-93277135 chr11:93277124-93277135
17	RAD21	chr11:93276390-93277041	HepG2	liver:	n/a	chr11:93276580-93276593
18	CTCF	chr11:93276940-93277090	AoAF	blood vessel:	n/a	n/a
19	CHD2	chr11:93275134-93277071	Hela-S3	cervix:	n/a	chr11:93276653-93276663 chr11:93275865-93275875
20	CTCF	chr11:93276960-93277110	HVMF	connective:	n/a	n/a
21	MAZ	chr11:93276440-93277194	IMR90	lung:	n/a	chr11:93276658-93276668
22	SMC3	chr11:93276413-93277087	GM12878	blood:	n/a	chr11:93276581-93276595
23	TFAP2C	chr11:93275355-93277123	Hela-S3	cervix:	n/a	n/a
24	RUNX3	chr11:93276390-93277080	GM12878	blood:	n/a	n/a
25	YY1	chr11:93276420-93277069	H1-hESC	embryonic stem cell:	n/a	chr11:93276497-93276506 chr11:93276537-93276551 chr11:93276651-93276662 chr11:93276492-93276506
26	CCNT2	chr11:93275965-93277086	K562	blood:	n/a	chr11:93276084-93276093 chr11:93276234-93276243
27	CTCF	chr11:93276880-93277030	HPF	lung:	n/a	n/a
28	MAZ	chr11:93274985-93277144	Hela-S3	cervix:	n/a	chr11:93276658-93276668 chr11:93275298-93275307 chr11:93275297-93275306 chr11:93275890-93275900
29	GTF2F1	chr11:93276510-93277081	Hela-S3	cervix:	n/a	n/a
30	CTCF	chr11:93276920-93277070	BE2_C	brain:	n/a	n/a
31	SP1	chr11:93276456-93277027	A549	lung:	n/a	chr11:93276655-93276667 chr11:93276657-93276666 chr11:93276515-93276524 chr11:93276655-93276667
32	CTCF	chr11:93276900-93277050	Caco-2	colon:	n/a	n/a
33	RAD21	chr11:93275299-93277325	SK-N-SH	brain:	n/a	chr11:93276580-93276593
34	CTCF	chr11:93276920-93277070	NHDF-neo	bronchial:	n/a	n/a
35	EP300	chr11:93276373-93277104	ECC-1	luminal epithelium:	n/a	chr11:93276536-93276545 chr11:93276498-93276507
36	TBL1XR1	chr11:93276479-93277038	GM12878	blood:	n/a	n/a
37	MAZ	chr11:93276422-93277025	GM12878	blood:	n/a	chr11:93276658-93276668
38	MAX	chr11:93275840-93277028	HepG2	liver:	n/a	chr11:93276658-93276668 chr11:93275890-93275900
39	MAX	chr11:93276140-93277032	K562	blood:	n/a	chr11:93276658-93276668
40	CTCF	chr11:93276880-93277030	HFF-Myc	foreskin:	n/a	n/a
41	ZC3H11A	chr11:93276482-93277034	K562	blood:	n/a	n/a
42	TBL1XR1	chr11:93276514-93277058	K562	blood:	n/a	n/a
43	RCOR1	chr11:93276114-93277126	Hela-S3	cervix:	n/a	n/a
44	MAX	chr11:93276386-93277068	H1-hESC	embryonic stem cell:	n/a	chr11:93276658-93276668
45	MAX	chr11:93274972-93277086	Hela-S3	cervix:	n/a	chr11:93276658-93276668 chr11:93275298-93275307 chr11:93275297-93275306 chr11:93275890-93275900
46	PML	chr11:93276403-93277164	GM12878	blood:	n/a	n/a
47	TCF12	chr11:93276452-93277068	A549	lung:	n/a	n/a
48	SMARCB1	chr11:93275298-93277200	Hela-S3	cervix:	n/a	chr11:93275298-93275307
49	MXI1	chr11:93276474-93277191	Hela-S3	cervix:	n/a	n/a
50	BRCA1	chr11:93276463-93277113	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:93274349..93277500-chr11:93472599..93475364,3	K562	blood:
2	chr11:93276670..93279805-chr11:93289602..93292268,3	K562	blood:

Variant related genes	Relation type
SMCO4	TF binding region
ENSG00000240202	Chromatin interaction
ENSG00000166012	Chromatin interaction
ENSG00000182919	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10501807	1.00[AMR][1000 genomes]
rs11820244	1.00[AMR][1000 genomes]
rs16918984	1.00[AMR][1000 genomes]
rs1939558	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2399678	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2399687	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2895471	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4753087	1.00[AMR][1000 genomes]
rs4753469	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4753479	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7111644	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7127955	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898181	chr11:93072843-93662459	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
2	nsv1039623	chr11:93141461-93328739	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93275000-93277200	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr11:93275200-93277200	Active TSS	Right Ventricle	heart
3	chr11:93275400-93277200	Active TSS	Fetal Kidney	kidney
4	chr11:93275400-93277200	Active TSS	Gastric	stomach
5	chr11:93275600-93277200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr11:93275600-93277200	Active TSS	Aorta	Aorta
7	chr11:93275600-93277200	Active TSS	Liver	Liver
8	chr11:93275600-93277200	Active TSS	A549	lung
9	chr11:93275600-93277200	Active TSS	HSMMtube	muscle
10	chr11:93275600-93277400	Active TSS	H9 Cell Line	embryonic stem cell
11	chr11:93275800-93277200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr11:93275800-93277200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr11:93275800-93277200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
14	chr11:93275800-93277200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
15	chr11:93275800-93277200	Active TSS	Esophagus	oesophagus
16	chr11:93275800-93277200	Active TSS	NHLF	lung
17	chr11:93275800-93277400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr11:93276200-93277200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr11:93276400-93277200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr11:93276600-93277200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
21	chr11:93276600-93277200	Flanking Active TSS	Primary hematopoietic stem cells	blood
22	chr11:93276600-93277200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
23	chr11:93276600-93277200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
24	chr11:93276600-93277200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr11:93276600-93277200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
26	chr11:93276600-93277200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr11:93276600-93277200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr11:93276600-93277200	Flanking Active TSS	Adipose Nuclei	Adipose
29	chr11:93276600-93277200	Flanking Active TSS	Fetal Brain Male	brain
30	chr11:93276600-93277200	Flanking Active TSS	Fetal Heart	heart
31	chr11:93276600-93277200	Flanking Active TSS	Fetal Muscle Trunk	muscle
32	chr11:93276600-93277200	Flanking Active TSS	Fetal Muscle Leg	muscle
33	chr11:93276600-93277200	Flanking Active TSS	Placenta	Placenta
34	chr11:93276600-93277200	Flanking Active TSS	Fetal Thymus	thymus
35	chr11:93276600-93277200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
36	chr11:93276600-93277200	Enhancers	Spleen	Spleen
37	chr11:93276600-93277200	Flanking Active TSS	HMEC	breast
38	chr11:93276600-93277200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
39	chr11:93276600-93277400	Flanking Active TSS	Brain Hippocampus Middle	brain
40	chr11:93276600-93277400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
41	chr11:93276600-93277400	Flanking Active TSS	Dnd41	blood
42	chr11:93276800-93277200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
43	chr11:93276800-93277200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
44	chr11:93276800-93277200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr11:93276800-93277200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr11:93276800-93277200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr11:93276800-93277200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
48	chr11:93276800-93277200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
49	chr11:93276800-93277200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr11:93276800-93277200	Flanking Active TSS	Muscle Satellite Cultured Cells	--

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