Variant report

Variant	rs527716531
Chromosome Location	chr11:85427823-85427824
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	POLR2A	chr11:85427549-85428091	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:85427809..85429920-chr11:85433567..85435878,3	MCF-7	breast:

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

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:65 , 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	chr11:85406200-85429800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr11:85412000-85436800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr11:85412000-85438000	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr11:85413600-85429600	Weak transcription	Fetal Stomach	stomach
9	chr11:85413800-85430000	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr11:85417600-85428600	Weak transcription	Osteobl	bone
11	chr11:85417600-85453000	Weak transcription	Gastric	stomach
12	chr11:85418400-85436400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr11:85422400-85428000	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr11:85422400-85430200	Weak transcription	Fetal Kidney	kidney
15	chr11:85422600-85428600	Weak transcription	Brain Cingulate Gyrus	brain
16	chr11:85422600-85448600	Weak transcription	Fetal Intestine Large	intestine
17	chr11:85422800-85448200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr11:85423000-85429800	Weak transcription	Rectal Smooth Muscle	rectum
19	chr11:85423600-85430000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr11:85424000-85448600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr11:85424400-85428400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr11:85424600-85429800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr11:85425200-85428600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr11:85425400-85428600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr11:85425600-85429600	Weak transcription	Duodenum Mucosa	Duodenum
26	chr11:85425600-85429800	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr11:85425800-85429600	Weak transcription	Primary T cells from cord blood	blood
28	chr11:85425800-85429600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr11:85426600-85428600	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr11:85426800-85428200	Flanking Active TSS	A549	lung
31	chr11:85427000-85428000	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr11:85427000-85428000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr11:85427000-85428200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr11:85427000-85428200	Enhancers	Skeletal Muscle Male	skeletal muscle
35	chr11:85427000-85428400	Active TSS	Skeletal Muscle Female	skeletal muscle
36	chr11:85427000-85428800	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr11:85427000-85430600	Strong transcription	Rectal Mucosa Donor 31	rectum
38	chr11:85427200-85428000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr11:85427200-85428000	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr11:85427200-85428600	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr11:85427200-85428800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr11:85427200-85429600	Active TSS	Fetal Muscle Leg	muscle
43	chr11:85427200-85430200	Active TSS	NHLF	lung
44	chr11:85427200-85430600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr11:85427200-85430600	Active TSS	Fetal Muscle Trunk	muscle
46	chr11:85427200-85433000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr11:85427400-85428200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr11:85427400-85428200	Transcr. at gene 5' and 3'	HSMM	muscle
49	chr11:85427400-85430600	Active TSS	HSMMtube	muscle
50	chr11:85427600-85428400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin

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