Variant report

Variant	rs541647050
Chromosome Location	chr11:64410497-64410498
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	MXI1	chr11:64409351-64411995	SK-N-SH	brain:	n/a	chr11:64411478-64411487
2	POLR2A	chr11:64410292-64410617	U87	brain:	n/a	n/a
3	POLR2A	chr11:64409300-64412311	H1-neurons	neurons:	n/a	n/a
4	POLR2A	chr11:64409535-64411757	H1-neurons	neurons:	n/a	n/a
5	POLR2A	chr11:64410292-64410611	U87	brain:	n/a	n/a
6	REST	chr11:64410280-64411346	H1-neurons	neurons:	n/a	chr11:64410461-64410474
7	CTBP2	chr11:64410352-64411287	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	11:64187725-64189071..11:64402707-64415880	K562	blood:

Variant related genes	Relation type
ENSG00000237410	TF binding region
NRXN2	TF binding region
ENSG00000231492	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897693	chr11:64305452-64440920	Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	esv2422214	chr11:64312491-64483418	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv832188	chr11:64315368-64485209	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv468596	chr11:64334114-64527080	Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv555195	chr11:64334114-64527080	Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	nsv897694	chr11:64334114-64584959	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
7	nsv818842	chr11:64345448-64546391	Bivalent Enhancer Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
8	nsv528506	chr11:64345448-64701030	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1075 gene(s)	inside rSNPs	diseases
9	nsv555196	chr11:64357072-64559898	Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
10	nsv897695	chr11:64357072-64701030	Weak transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1075 gene(s)	inside rSNPs	diseases
11	nsv897696	chr11:64365796-64412877	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS 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	nsv1051350	chr11:64372906-64533632	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
13	nsv555198	chr11:64373899-64573589	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
14	esv1804443	chr11:64386453-64534785	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
15	esv3392074	chr11:64409001-64411549	Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Active TSS Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
16	esv3405495	chr11:64409776-64411924	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
17	esv3330626	chr11:64409926-64412124	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64406600-64410800	Active TSS	Brain Angular Gyrus	brain
2	chr11:64406800-64411400	Active TSS	Brain Anterior Caudate	brain
3	chr11:64408800-64411400	Weak transcription	Gastric	stomach
4	chr11:64409200-64410600	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
5	chr11:64409200-64411000	Bivalent/Poised TSS	Fetal Intestine Small	intestine
6	chr11:64409200-64411400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
7	chr11:64409200-64411400	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle
8	chr11:64409200-64411600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
9	chr11:64409400-64410600	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
10	chr11:64409400-64410800	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
11	chr11:64409400-64411000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
12	chr11:64409400-64411200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
13	chr11:64409400-64411400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
14	chr11:64409400-64411400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
15	chr11:64409400-64411400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
16	chr11:64409400-64411600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
17	chr11:64409600-64410600	Bivalent Enhancer	Primary hematopoietic stem cells	blood
18	chr11:64409600-64410600	Enhancers	Pancreas	Pancrea
19	chr11:64409600-64410800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
20	chr11:64409600-64410800	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
21	chr11:64409600-64411400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
22	chr11:64409600-64411400	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr11:64409600-64411400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
24	chr11:64409600-64411400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
25	chr11:64409600-64411400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr11:64409600-64411600	Active TSS	Fetal Brain Female	brain
27	chr11:64409800-64410600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
28	chr11:64409800-64410600	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
29	chr11:64409800-64410600	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
30	chr11:64409800-64410800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
31	chr11:64409800-64410800	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr11:64409800-64410800	Flanking Active TSS	Stomach Smooth Muscle	stomach
33	chr11:64409800-64411000	Bivalent/Poised TSS	Colonic Mucosa	Colon
34	chr11:64409800-64411400	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr11:64409800-64411400	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr11:64409800-64411400	Bivalent Enhancer	Primary B cells from cord blood	blood
37	chr11:64409800-64411400	Active TSS	Brain Cingulate Gyrus	brain
38	chr11:64409800-64411400	Active TSS	Brain Substantia Nigra	brain
39	chr11:64409800-64411400	Bivalent/Poised TSS	Fetal Muscle Leg	muscle
40	chr11:64409800-64411400	Bivalent/Poised TSS	Right Ventricle	heart
41	chr11:64409800-64411600	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
42	chr11:64410000-64410600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
43	chr11:64410000-64410600	Bivalent Enhancer	Placenta	Placenta
44	chr11:64410000-64410800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr11:64410000-64411200	Enhancers	Fetal Brain Male	brain
46	chr11:64410000-64411400	Active TSS	Brain Germinal Matrix	brain
47	chr11:64410000-64411400	Active TSS	Brain Hippocampus Middle	brain
48	chr11:64410000-64411400	Active TSS	Brain Inferior Temporal Lobe	brain
49	chr11:64410000-64411400	Active TSS	Colon Smooth Muscle	Colon
50	chr11:64410000-64411400	Bivalent/Poised TSS	Fetal Lung	lung

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