Variant report

Variant	rs60843504
Chromosome Location	chr11:77182723-77182724
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:114)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:114 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr11:77182672-77182869	K562	blood:	n/a	n/a
2	CTCF	chr11:77182640-77182790	HAc	cerebellar:	n/a	n/a
3	CTCF	chr11:77182700-77182850	Caco-2	colon:	n/a	n/a
4	CTCF	chr11:77182680-77182830	GM12878	blood:	n/a	n/a
5	CTCF	chr11:77182657-77182879	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTCF	chr11:77182628-77182922	IMR90	lung:	n/a	n/a
7	CTCF	chr11:77182680-77182830	WERI-Rb-1	eye:	n/a	n/a
8	CTCF	chr11:77182700-77182850	GM12866	blood:	n/a	n/a
9	CTCF	chr11:77182700-77182850	GM12870	blood:	n/a	n/a
10	CTCF	chr11:77182720-77182870	HAc	cerebellar:	n/a	n/a
11	CTCF	chr11:77182680-77182830	GM12865	blood:	n/a	n/a
12	CTCF	chr11:77182620-77182770	AG09319	gingival:	n/a	n/a
13	ZNF143	chr11:77182621-77182919	GM12878	blood:	n/a	n/a
14	CTCF	chr11:77182636-77182860	HepG2	liver:	n/a	n/a
15	SRF	chr11:77182679-77183151	ECC-1	luminal epithelium:	n/a	n/a
16	CTCF	chr11:77182700-77182850	GM12873	blood:	n/a	n/a
17	CTCF	chr11:77182700-77182850	HCM	heart:	n/a	n/a
18	CTCF	chr11:77182700-77182850	AG04450	lung:	n/a	n/a
19	CTCF	chr11:77182720-77182870	AoAF	blood vessel:	n/a	n/a
20	CTCF	chr11:77182680-77182830	HMF	breast:	n/a	n/a
21	CTCF	chr11:77182720-77182870	HCT-116	colon:	n/a	n/a
22	CTCF	chr11:77182640-77182790	GM12875	blood:	n/a	n/a
23	CTCF	chr11:77182656-77182829	GM19240	blood:	n/a	n/a
24	CTCF	chr11:77182694-77182862	GM10266	blood:	n/a	n/a
25	ZNF143	chr11:77182678-77182820	K562	blood:	n/a	n/a
26	CTCF	chr11:77182660-77182810	HPF	lung:	n/a	n/a
27	CTCF	chr11:77182660-77182810	NB4	blood:	n/a	n/a
28	CTCF	chr11:77182720-77182870	HBMEC	blood vessel:	n/a	n/a
29	CTCF	chr11:77182660-77182810	HVMF	connective:	n/a	n/a
30	CTCF	chr11:77182720-77182870	K562	blood:	n/a	n/a
31	CTCF	chr11:77182620-77182770	HEEpiC	esophagus:	n/a	n/a
32	MTA3	chr11:77181213-77182814	GM12878	blood:	n/a	n/a
33	MAX	chr11:77182690-77183240	ECC-1	luminal epithelium:	n/a	n/a
34	RAD21	chr11:77182645-77182940	SK-N-SH_RA	brain:	n/a	n/a
35	CTCF	chr11:77182695-77182860	HepG2	liver:	n/a	n/a
36	CTCF	chr11:77182651-77182884	GM12878	blood:	n/a	n/a
37	CTCF	chr11:77182698-77182854	LNCaP	prostate:	n/a	n/a
38	GATA3	chr11:77182694-77183271	MCF-7	breast:	n/a	n/a
39	CTCF	chr11:77182680-77182830	GM12874	blood:	n/a	n/a
40	SIN3AK20	chr11:77182506-77183418	MCF-7	breast:	n/a	n/a
41	RAD21	chr11:77182591-77183279	H1-hESC	embryonic stem cell:	n/a	n/a
42	CTCF	chr11:77182680-77182830	HEK293	kidney:	n/a	n/a
43	CTCF	chr11:77182720-77182870	HRE	kidney:	n/a	n/a
44	CTCF	chr11:77182602-77182927	K562	blood:	n/a	n/a
45	WRNIP1	chr11:77181442-77183205	GM12878	blood:	n/a	n/a
46	CTCF	chr11:77182720-77182870	HPAF	blood vessel:	n/a	n/a
47	CTCF	chr11:77182620-77182770	HUVEC	blood vessel:	n/a	n/a
48	CTCF	chr11:77182660-77182810	HCT-116	colon:	n/a	n/a
49	CTCF	chr11:77182680-77182830	RPTEC	kidney:	n/a	n/a
50	CTCF	chr11:77182533-77183120	GM12878	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:77179858..77182882-chr11:77183387..77186511,3	MCF-7	breast:
2	chr11:77161236..77163004-chr11:77181635..77184038,2	MCF-7	breast:
3	chr11:77168519..77171597-chr11:77180665..77182753,3	MCF-7	breast:
4	chr11:77172481..77174902-chr11:77181213..77184183,2	MCF-7	breast:
5	chr11:77120907..77124363-chr11:77182142..77186268,4	MCF-7	breast:
6	chr11:77148181..77150043-chr11:77181662..77183504,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000268635	TF binding region
ENSG00000149269	Chromatin interaction
ENSG00000268635	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs56731074	0.96[AFR][1000 genomes]
rs57692537	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58324432	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7102973	0.83[AFR][1000 genomes]
rs7110378	0.83[AFR][1000 genomes]
rs73494597	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73494599	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73496868	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73496872	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73496883	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73496888	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73496889	0.87[AMR][1000 genomes]
rs73501406	0.83[AFR][1000 genomes]
rs73501407	0.83[AFR][1000 genomes]
rs73501414	0.83[AFR][1000 genomes]
rs73501423	0.83[AFR][1000 genomes]
rs73501430	0.83[AFR][1000 genomes]
rs73501440	0.83[AFR][1000 genomes]
rs73501471	0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048360	chr11:76900813-77387933	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv541089	chr11:76900813-77387933	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription 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 miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1049603	chr11:76900813-77520411	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv541090	chr11:76900813-77520411	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	esv3424135	chr11:76961603-77277087	Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv1037724	chr11:77061945-77250391	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv541091	chr11:77061945-77250391	Weak transcription Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	esv3437433	chr11:77101280-77291686	Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:77173800-77183800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr11:77178200-77182800	Enhancers	Fetal Intestine Large	intestine
3	chr11:77178400-77183400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:77178400-77183400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr11:77179200-77182800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr11:77179800-77183600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr11:77180000-77183200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr11:77180200-77183400	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr11:77180200-77183800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
10	chr11:77180400-77183800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
11	chr11:77181000-77182800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr11:77181000-77183000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr11:77181000-77183800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
14	chr11:77181000-77184200	Enhancers	Dnd41	blood
15	chr11:77181200-77183400	Enhancers	Brain Hippocampus Middle	brain
16	chr11:77181200-77183800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
17	chr11:77181200-77184000	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr11:77181400-77182800	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr11:77181400-77183000	Flanking Active TSS	Duodenum Mucosa	Duodenum
20	chr11:77181400-77183000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
21	chr11:77181400-77183400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr11:77181400-77183400	Enhancers	Brain Cingulate Gyrus	brain
23	chr11:77181400-77183400	Enhancers	Pancreas	Pancrea
24	chr11:77181400-77183800	Enhancers	Primary T cells from cord blood	blood
25	chr11:77181400-77183800	Enhancers	Liver	Liver
26	chr11:77181400-77183800	Enhancers	Thymus	Thymus
27	chr11:77181400-77184000	Enhancers	Brain Substantia Nigra	brain
28	chr11:77181600-77182800	Active TSS	ES-I3 Cell Line	embryonic stem cell
29	chr11:77181600-77183400	Enhancers	Brain Anterior Caudate	brain
30	chr11:77181800-77183000	Enhancers	Primary hematopoietic stem cells	blood
31	chr11:77181800-77183800	Weak transcription	Right Atrium	heart
32	chr11:77182000-77182800	Enhancers	Rectal Smooth Muscle	rectum
33	chr11:77182000-77182800	Flanking Active TSS	Stomach Mucosa	stomach
34	chr11:77182000-77183200	Flanking Active TSS	H9 Cell Line	embryonic stem cell
35	chr11:77182000-77183400	Enhancers	Fetal Brain Male	brain
36	chr11:77182000-77183400	Enhancers	Fetal Kidney	kidney
37	chr11:77182000-77183800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr11:77182000-77183800	Enhancers	Gastric	stomach
39	chr11:77182000-77183800	Flanking Active TSS	GM12878-XiMat	blood
40	chr11:77182000-77183800	Enhancers	Monocytes-CD14+_RO01746	blood
41	chr11:77182000-77184000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
42	chr11:77182200-77183200	Flanking Active TSS	H1 Cell Line	embryonic stem cell
43	chr11:77182200-77183400	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr11:77182200-77183400	Weak transcription	Brain Angular Gyrus	brain
45	chr11:77182200-77183800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr11:77182200-77183800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
47	chr11:77182200-77183800	Bivalent Enhancer	HepG2	liver
48	chr11:77182200-77184000	Weak transcription	Primary T helper cells fromperipheralblood	blood
49	chr11:77182400-77182800	Flanking Active TSS	Colonic Mucosa	Colon
50	chr11:77182400-77182800	Enhancers	Psoas Muscle	Psoas

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