Variant report

Variant	rs114329983
Chromosome Location	chr11:85436042-85436043
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	CEBPB	chr11:85435856-85436163	IMR90	lung:	n/a	chr11:85435989-85436000
2	CEBPB	chr11:85435889-85436106	Hela-S3	cervix:	n/a	chr11:85435989-85436000
3	CEBPB	chr11:85435902-85436102	K562	blood:	n/a	chr11:85435989-85436000
4	POLR2A	chr11:85435764-85436099	K562	blood:	n/a	n/a
5	CEBPB	chr11:85435845-85436161	HepG2	liver:	n/a	chr11:85435989-85436000
6	CEBPB	chr11:85435842-85436151	A549	lung:	n/a	chr11:85435989-85436000

No.	Distal block	Cell Line	Cell type
1	chr11:85338344..85340985-chr11:85434050..85436369,2	K562	blood:
2	chr11:85434348..85438681-chr11:85520824..85523815,4	MCF-7	breast:
3	chr11:85374169..85377247-chr11:85434867..85438072,3	MCF-7	breast:

Variant related genes	Relation type
SYTL2	TF binding region
ENSG00000150672	Chromatin interaction
ENSG00000137504	Chromatin interaction
ENSG00000171204	Chromatin interaction
ENSG00000137501	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:27 , 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
11	nsv1036110	chr11:85429074-85471132	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv1054027	chr11:85429074-85477283	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	esv3471508	chr11:85429687-85472395	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
14	esv3471519	chr11:85429687-85472395	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
15	nsv555634	chr11:85430397-85464922	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
16	nsv555635	chr11:85430397-85470893	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
17	nsv555636	chr11:85431886-85465179	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
18	nsv1042192	chr11:85433687-85464922	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
19	nsv1039118	chr11:85433687-85468605	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
20	nsv1039830	chr11:85433687-85470589	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
21	nsv1047001	chr11:85433687-85470941	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
22	nsv1042942	chr11:85433687-85471132	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
23	nsv1052732	chr11:85434057-85468605	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
24	nsv1048844	chr11:85434057-85470941	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
25	nsv1051644	chr11:85434057-85471132	Genic enhancers Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
26	nsv555637	chr11:85435730-85470893	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
27	esv3415899	chr11:85435978-85436161	Weak transcription Enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:85397200-85438600	Weak transcription	Colonic Mucosa	Colon
2	chr11:85412000-85436800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr11:85412000-85438000	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr11:85417600-85453000	Weak transcription	Gastric	stomach
5	chr11:85418400-85436400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr11:85422600-85448600	Weak transcription	Fetal Intestine Large	intestine
7	chr11:85422800-85448200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr11:85424000-85448600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr11:85430200-85437800	Weak transcription	Duodenum Mucosa	Duodenum
10	chr11:85430400-85436600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr11:85430400-85437400	Weak transcription	Stomach Mucosa	stomach
12	chr11:85430400-85459000	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr11:85430400-85480400	Weak transcription	Aorta	Aorta
14	chr11:85430600-85437200	Weak transcription	Fetal Kidney	kidney
15	chr11:85430600-85447000	Weak transcription	Ovary	ovary
16	chr11:85430800-85445000	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr11:85430800-85447200	Weak transcription	Fetal Stomach	stomach
18	chr11:85430800-85448800	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr11:85430800-85459000	Weak transcription	Fetal Muscle Trunk	muscle
20	chr11:85431000-85436400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr11:85431000-85445200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr11:85431200-85436200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr11:85431200-85436200	Weak transcription	NH-A	brain
24	chr11:85431200-85436600	Weak transcription	Osteobl	bone
25	chr11:85431400-85436400	Weak transcription	A549	lung
26	chr11:85431400-85436600	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr11:85431400-85451600	Weak transcription	HSMMtube	muscle
28	chr11:85431600-85436600	Weak transcription	HSMM	muscle
29	chr11:85431800-85436600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr11:85431800-85437600	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr11:85431800-85466600	Weak transcription	Brain Substantia Nigra	brain
32	chr11:85432000-85436600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr11:85432000-85436800	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr11:85432000-85460800	Weak transcription	Fetal Muscle Leg	muscle
35	chr11:85432200-85448400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr11:85433800-85448600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr11:85434000-85439400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr11:85434200-85439800	Strong transcription	Primary T cells from cord blood	blood
39	chr11:85434600-85436200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr11:85434600-85436200	Weak transcription	NHEK	skin
41	chr11:85434600-85436400	Weak transcription	HMEC	breast
42	chr11:85434600-85436600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr11:85434600-85437000	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr11:85434600-85445000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr11:85434800-85448200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr11:85435000-85436400	Weak transcription	Small Intestine	intestine
47	chr11:85435200-85437400	Weak transcription	Primary T cells fromperipheralblood	blood
48	chr11:85435200-85439000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr11:85435400-85436400	Enhancers	HUVEC	blood vessel
50	chr11:85435400-85437800	Enhancers	NHLF	lung

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