Variant report

Variant	rs193249354
Chromosome Location	chr11:67218576-67218577
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	chr11:67217429-67220463	GM12892	blood:	n/a	n/a
2	POLR2A	chr11:67218444-67219731	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:67218019..67220766-chr11:67230531..67233882,3	K562	blood:
2	chr11:67215208..67219901-chr11:67230573..67236211,5	K562	blood:
3	chr11:67138426..67140382-chr11:67217472..67219205,2	K562	blood:

Variant related genes	Relation type
CABP4	TF binding region
ENSG00000172663	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531397	chr11:66653381-67465721	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
2	nsv897797	chr11:67023040-67293234	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	206 gene(s)	inside rSNPs	diseases
3	nsv1043037	chr11:67027193-67357425	Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
4	nsv897801	chr11:67033076-67432479	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
5	nsv1048230	chr11:67058231-67252397	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	146 gene(s)	inside rSNPs	diseases
6	nsv897804	chr11:67090571-67224278	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
7	nsv1039205	chr11:67135246-67252397	Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	122 gene(s)	inside rSNPs	diseases
8	esv1818769	chr11:67138811-67300457	Flanking Active TSS Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	167 gene(s)	inside rSNPs	diseases
9	esv1798859	chr11:67139954-67272983	Active TSS Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	154 gene(s)	inside rSNPs	diseases
10	nsv897805	chr11:67155210-67283891	ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	148 gene(s)	inside rSNPs	diseases
11	nsv897806	chr11:67155210-67294308	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	148 gene(s)	inside rSNPs	diseases
12	nsv897807	chr11:67155210-67414492	Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	176 gene(s)	inside rSNPs	diseases
13	nsv897808	chr11:67155210-67419855	Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	176 gene(s)	inside rSNPs	diseases
14	nsv897809	chr11:67156875-67276235	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	148 gene(s)	inside rSNPs	diseases
15	nsv555254	chr11:67164495-67288594	Weak transcription Flanking Active TSS Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	146 gene(s)	inside rSNPs	diseases
16	nsv534229	chr11:67164667-67411909	Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	175 gene(s)	inside rSNPs	diseases
17	nsv897811	chr11:67166984-67218909	Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
18	nsv897813	chr11:67175692-67283891	Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
19	nsv521723	chr11:67175692-67311258	Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
20	esv1847460	chr11:67182600-67219337	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
21	nsv524096	chr11:67186000-67224988	Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
22	nsv468604	chr11:67186000-67283891	Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
23	nsv555256	chr11:67186000-67283891	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
24	nsv527056	chr11:67207426-67294308	Genic enhancers Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	115 gene(s)	inside rSNPs	diseases
25	esv1813337	chr11:67217703-67235815	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67211800-67220000	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr11:67211800-67231200	Weak transcription	Right Atrium	heart
3	chr11:67211800-67232000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:67212000-67219000	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr11:67212000-67219400	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr11:67212000-67219600	Weak transcription	Pancreas	Pancrea
7	chr11:67212000-67219800	Weak transcription	Esophagus	oesophagus
8	chr11:67212200-67219600	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr11:67212400-67219400	Enhancers	Primary T helper cells PMA-I stimulated	--
10	chr11:67212400-67226800	Enhancers	Primary B cells from peripheral blood	blood
11	chr11:67212600-67219800	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr11:67212800-67219600	Weak transcription	Lung	lung
13	chr11:67213000-67220000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr11:67213600-67219800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr11:67213600-67220000	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr11:67215400-67227200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr11:67215800-67218600	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr11:67215800-67230600	Weak transcription	Fetal Intestine Small	intestine
19	chr11:67216000-67219800	Weak transcription	Colonic Mucosa	Colon
20	chr11:67216400-67219600	Weak transcription	HUVEC	blood vessel
21	chr11:67216400-67219800	Enhancers	Primary B cells from cord blood	blood
22	chr11:67216600-67218600	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr11:67216600-67219200	Enhancers	Spleen	Spleen
24	chr11:67216600-67219400	Enhancers	Fetal Thymus	thymus
25	chr11:67216800-67219200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr11:67217000-67219400	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr11:67217200-67231400	Weak transcription	Thymus	Thymus
28	chr11:67217400-67218800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr11:67217800-67218600	Enhancers	Primary T killer memory cells from peripheral blood	blood
30	chr11:67217800-67218600	Enhancers	Monocytes-CD14+_RO01746	blood
31	chr11:67217800-67218800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr11:67217800-67219000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr11:67217800-67219000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr11:67217800-67219400	Weak transcription	Adipose Nuclei	Adipose
35	chr11:67217800-67220400	Enhancers	Fetal Muscle Leg	muscle
36	chr11:67218000-67218800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr11:67218000-67219600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr11:67218000-67221400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr11:67218200-67218800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr11:67218200-67219200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr11:67218200-67219200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr11:67218200-67219400	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr11:67218200-67220200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
44	chr11:67218200-67221600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr11:67218400-67219400	Weak transcription	Placenta	Placenta
46	chr11:67218400-67220000	Weak transcription	Brain Hippocampus Middle	brain

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