Variant report

Variant	rs693747
Chromosome Location	chr11:68274702-68274703
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:9 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr11:68274580-68274730	HCT-116	colon:	n/a	n/a
2	CTCF	chr11:68274560-68274710	HEEpiC	esophagus:	n/a	n/a
3	CTCF	chr11:68274600-68274750	BE2_C	brain:	n/a	n/a
4	CTCF	chr11:68274560-68274710	HPAF	blood vessel:	n/a	n/a
5	CTCF	chr11:68274560-68274710	HBMEC	blood vessel:	n/a	n/a
6	CTCF	chr11:68274580-68274730	RPTEC	kidney:	n/a	n/a
7	CTCF	chr11:68274560-68274710	BE2_C	brain:	n/a	n/a
8	CTCF	chr11:68274560-68274710	GM06990	blood:	n/a	n/a
9	CTCF	chr11:68274580-68274730	HCM	heart:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:68274527..68278088-chr11:68291601..68295051,3	MCF-7	breast:
2	chr11:68273861..68275803-chr11:68294083..68295941,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000212093	TF binding region
ENSG00000222339	TF binding region

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10736668	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10750828	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2509524	1.00[AMR][1000 genomes]
rs2510369	1.00[AMR][1000 genomes]
rs2510381	1.00[AFR][1000 genomes]
rs2510409	1.00[AMR][1000 genomes]
rs2513288	1.00[EUR][1000 genomes]
rs2513301	1.00[EUR][1000 genomes]
rs3136542	1.00[EUR][1000 genomes]
rs4930231	1.00[AMR][1000 genomes]
rs537666	1.00[AFR][1000 genomes]
rs542995	1.00[AMR][1000 genomes]
rs569430	1.00[AMR][1000 genomes]
rs588578	1.00[AMR][1000 genomes]
rs630456	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs662856	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs678917	1.00[AMR][1000 genomes]
rs7107592	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73515091	1.00[EUR][1000 genomes]
rs7948045	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:68238600-68287800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr11:68256600-68287200	Weak transcription	NHEK	skin
3	chr11:68261600-68278000	Enhancers	Primary T helper cells fromperipheralblood	blood
4	chr11:68262200-68277000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
5	chr11:68265000-68275200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr11:68265200-68302600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr11:68265600-68280000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr11:68266200-68277600	Weak transcription	HMEC	breast
9	chr11:68266200-68279000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr11:68266400-68276000	Weak transcription	HSMM	muscle
11	chr11:68266400-68278400	Enhancers	Rectal Smooth Muscle	rectum
12	chr11:68266600-68276000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr11:68267000-68276000	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr11:68267000-68278200	Weak transcription	Hela-S3	cervix
15	chr11:68267000-68280000	Weak transcription	Thymus	Thymus
16	chr11:68267200-68275400	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr11:68267200-68283000	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr11:68267200-68287800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr11:68267400-68276400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr11:68267400-68287000	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr11:68268000-68279400	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr11:68268600-68277800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr11:68268600-68290800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr11:68268600-68303800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr11:68269200-68275800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
26	chr11:68270000-68274800	Enhancers	Duodenum Smooth Muscle	Duodenum
27	chr11:68270000-68274800	Enhancers	Fetal Heart	heart
28	chr11:68270000-68275200	Enhancers	Brain Hippocampus Middle	brain
29	chr11:68270600-68276400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr11:68270600-68276800	Enhancers	Adipose Nuclei	Adipose
31	chr11:68270800-68274800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr11:68271000-68274800	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr11:68271000-68275000	Enhancers	Pancreatic Islets	Pancreatic Islet
34	chr11:68271000-68277000	Enhancers	Osteobl	bone
35	chr11:68271000-68294600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr11:68271200-68275000	Weak transcription	Primary neutrophils fromperipheralblood	blood
37	chr11:68271200-68275400	Enhancers	Colon Smooth Muscle	Colon
38	chr11:68271200-68275800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr11:68271200-68279600	Weak transcription	Placenta	Placenta
40	chr11:68271200-68280400	Weak transcription	Fetal Intestine Large	intestine
41	chr11:68271200-68281600	Weak transcription	Fetal Stomach	stomach
42	chr11:68271200-68287400	Weak transcription	Spleen	Spleen
43	chr11:68271200-68287600	Weak transcription	Colonic Mucosa	Colon
44	chr11:68271200-68289000	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr11:68271600-68275800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr11:68271600-68277600	Weak transcription	Dnd41	blood
47	chr11:68271600-68280000	Weak transcription	Fetal Muscle Trunk	muscle
48	chr11:68271600-68280400	Weak transcription	Fetal Muscle Leg	muscle
49	chr11:68271600-68280400	Weak transcription	Lung	lung
50	chr11:68271600-68280400	Weak transcription	HUVEC	blood vessel

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