Variant report

Variant	rs142760564
Chromosome Location	chr11:85427572-85427573
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:85427549-85428091	K562	blood:	n/a	n/a
2	SP1	chr11:85427151-85427774	A549	lung:	n/a	chr11:85427314-85427321
3	SP1	chr11:85427169-85427682	A549	lung:	n/a	chr11:85427314-85427321

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:85427572-85427622	HL-60	blood:	n/a
2	chr11:85427572-85427622	HRCEpiC	kidney:	n/a
3	chr11:85427572-85427622	Hepatocyte	liver:	n/a
4	chr11:85427572-85427622	HCT-116	colon:	n/a
5	chr11:85427572-85427622	AoSMC	blood vessel:	n/a
6	chr11:85427572-85427622	HCPEpiC	choroid plexus:	n/a
7	chr11:85427572-85427622	K562	blood:	n/a
8	chr11:85427572-85427622	PrEC	prostate:	n/a
9	chr11:85427572-85427622	Jurkat	blood:	n/a
10	chr11:85427572-85427622	HEEpiC	esophagus:	n/a
11	chr11:85427572-85427622	ECC-1	luminal epithelium:	n/a
12	chr11:85427572-85427622	HepG2	liver:	n/a
13	chr11:85427572-85427622	HNPCEpiC	eye:	n/a
14	chr11:85427572-85427622	GM12891	blood:	n/a
15	chr11:85427572-85427622	SKMC	muscle:	n/a
16	chr11:85427572-85427622	HRE	kidney:	n/a
17	chr11:85427572-85427622	PFSK-1	brain:	n/a
18	chr11:85427572-85427622	GM12878	blood:	n/a
19	chr11:85427572-85427622	AG04450	lung:	fetal
20	chr11:85427572-85427622	HIPEpiC	eye:	n/a
21	chr11:85427572-85427622	NHBE	bronchial:	n/a
22	chr11:85427572-85427622	SK-N-MC	brain:	n/a
23	chr11:85427572-85427622	BE2_C	brain:	n/a
24	chr11:85427572-85427622	SAEC	small airway:	n/a
25	chr11:85427572-85427622	U87	brain:	n/a
26	chr11:85427572-85427622	HUVEC	blood vessel:	n/a
27	chr11:85427572-85427622	CMK	blood:	n/a
28	chr11:85427572-85427622	IMR90	lung:	fetal
29	chr11:85427572-85427622	Hela-S3	cervix:	n/a
30	chr11:85427572-85427622	AG04449	skin:	fetal
31	chr11:85427572-85427622	ProgFib	skin:	n/a
32	chr11:85427572-85427622	LNCaP	prostate:	n/a
33	chr11:85427572-85427622	Caco-2	colon:	n/a
34	chr11:85427572-85427622	HCM	heart:	n/a
35	chr11:85427572-85427622	SK-N-SH_RA	brain:	n/a
36	chr11:85427572-85427622	NT2-D1	testis:	n/a
37	chr11:85427572-85427622	AG09319	gingival:	n/a
38	chr11:85427572-85427622	RPTEC	kidney:	n/a
39	chr11:85427572-85427622	HMEC	breast:	n/a
40	chr11:85427572-85427622	A549	lung:	n/a
41	chr11:85427572-85427622	BJ	skin:	n/a
42	chr11:85427572-85427622	ovcar-3	ovarian:	n/a
43	chr11:85427572-85427622	GM06990	blood:	n/a
44	chr11:85427572-85427622	T-47D	breast:	n/a
45	chr11:85427572-85427622	HCF	heart:	n/a
46	chr11:85427572-85427622	HPAEpiC	pulmonary alveolar:	n/a
47	chr11:85427572-85427622	MCF-7	breast:	n/a
48	chr11:85427572-85427622	NHDF-neo	bronchial:	n/a
49	chr11:85427572-85427622	MCF10A-Er-Src	breast:	n/a
50	chr11:85427572-85427622	AG09309	skin:	n/a

No data

Variant related genes	Relation type
SYTL2	TF binding region
SYTL2	CpG island

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051155	chr11:85006564-85721261	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
2	nsv541110	chr11:85006564-85721261	Enhancers Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
3	esv2758279	chr11:85180480-85603988	Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	esv2759845	chr11:85180480-85603988	Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
5	nsv468768	chr11:85395180-85436352	Weak transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv555632	chr11:85395180-85436352	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv832222	chr11:85405712-85603981	Enhancers Active TSS Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	nsv898050	chr11:85406915-85499290	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv1052123	chr11:85425856-85471132	Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv555633	chr11:85426330-85473883	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:85396800-85429800	Weak transcription	Stomach Mucosa	stomach
2	chr11:85397200-85438600	Weak transcription	Colonic Mucosa	Colon
3	chr11:85397600-85428400	Weak transcription	Brain Angular Gyrus	brain
4	chr11:85397800-85430000	Weak transcription	Ovary	ovary
5	chr11:85398000-85427600	Weak transcription	Brain Substantia Nigra	brain
6	chr11:85406200-85429800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr11:85412000-85436800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr11:85412000-85438000	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr11:85413600-85429600	Weak transcription	Fetal Stomach	stomach
10	chr11:85413800-85430000	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr11:85417600-85428600	Weak transcription	Osteobl	bone
12	chr11:85417600-85453000	Weak transcription	Gastric	stomach
13	chr11:85418400-85436400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr11:85422400-85427800	Weak transcription	Brain Hippocampus Middle	brain
15	chr11:85422400-85428000	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr11:85422400-85430200	Weak transcription	Fetal Kidney	kidney
17	chr11:85422600-85428600	Weak transcription	Brain Cingulate Gyrus	brain
18	chr11:85422600-85448600	Weak transcription	Fetal Intestine Large	intestine
19	chr11:85422800-85448200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr11:85423000-85429800	Weak transcription	Rectal Smooth Muscle	rectum
21	chr11:85423600-85430000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr11:85424000-85448600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr11:85424200-85427800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr11:85424400-85428400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr11:85424600-85429800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr11:85425200-85428600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr11:85425400-85428600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr11:85425600-85429600	Weak transcription	Duodenum Mucosa	Duodenum
29	chr11:85425600-85429800	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr11:85425800-85429600	Weak transcription	Primary T cells from cord blood	blood
31	chr11:85425800-85429600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr11:85426600-85427600	Flanking Active TSS	NHDF-Ad	bronchial
33	chr11:85426600-85428600	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr11:85426800-85428200	Flanking Active TSS	A549	lung
35	chr11:85427000-85428000	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr11:85427000-85428000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr11:85427000-85428200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr11:85427000-85428200	Enhancers	Skeletal Muscle Male	skeletal muscle
39	chr11:85427000-85428400	Active TSS	Skeletal Muscle Female	skeletal muscle
40	chr11:85427000-85428800	Enhancers	iPS-20b Cell Line	embryonic stem cell
41	chr11:85427000-85430600	Strong transcription	Rectal Mucosa Donor 31	rectum
42	chr11:85427200-85427600	Enhancers	H1 Cell Line	embryonic stem cell
43	chr11:85427200-85427600	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr11:85427200-85427800	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr11:85427200-85427800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
46	chr11:85427200-85428000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr11:85427200-85428000	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr11:85427200-85428600	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr11:85427200-85428800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr11:85427200-85429600	Active TSS	Fetal Muscle Leg	muscle

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