Variant report

Variant	rs555350074
Chromosome Location	chr12:11166184-11166185
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:11157746..11159406-chr12:11165545..11167423,2	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758294	chr12:10969620-11714921	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
2	esv2759879	chr12:10969620-11714921	Genic enhancers Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
3	nsv1038277	chr12:11060978-11504091	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
4	nsv428272	chr12:11069845-11714921	Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
5	nsv832330	chr12:11077678-11206957	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv898779	chr12:11134701-11174276	Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	esv21271	chr12:11142157-11169458	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	esv8289	chr12:11144397-11222359	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
9	nsv898780	chr12:11144994-11251560	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
10	esv3503763	chr12:11161162-11275828	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
11	esv3503774	chr12:11161325-11275786	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
12	esv10376	chr12:11161380-11166286	Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
13	nsv1038709	chr12:11165117-11283834	Enhancers Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:11114400-11180200	Weak transcription	Primary B cells from peripheral blood	blood
2	chr12:11122000-11170200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr12:11122200-11168000	Weak transcription	HUVEC	blood vessel
4	chr12:11129200-11167600	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr12:11134800-11166800	Weak transcription	NHDF-Ad	bronchial
6	chr12:11136400-11180200	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr12:11136600-11180200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr12:11136600-11196400	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr12:11137400-11203000	Weak transcription	Hela-S3	cervix
10	chr12:11143400-11167600	Weak transcription	Fetal Intestine Small	intestine
11	chr12:11143400-11178800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr12:11145400-11177600	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr12:11146200-11167400	Weak transcription	Fetal Intestine Large	intestine
14	chr12:11147000-11166400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr12:11147000-11168400	Weak transcription	Liver	Liver
16	chr12:11147000-11178600	Weak transcription	Fetal Stomach	stomach
17	chr12:11147000-11185400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr12:11147200-11168600	Weak transcription	Spleen	Spleen
19	chr12:11147200-11169200	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr12:11147200-11171200	Weak transcription	Primary hematopoietic stem cells	blood
21	chr12:11147200-11176200	Weak transcription	Aorta	Aorta
22	chr12:11147200-11180400	Weak transcription	Pancreas	Pancrea
23	chr12:11148400-11178200	Weak transcription	Dnd41	blood
24	chr12:11149000-11168600	Weak transcription	Left Ventricle	heart
25	chr12:11154000-11169000	Weak transcription	Primary T cells from cord blood	blood
26	chr12:11154200-11167400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr12:11154200-11168000	Weak transcription	Fetal Muscle Leg	muscle
28	chr12:11154200-11174200	Weak transcription	Primary B cells from cord blood	blood
29	chr12:11154200-11178000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr12:11154200-11178200	Weak transcription	A549	lung
31	chr12:11154200-11178800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr12:11154400-11168000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr12:11159400-11168600	Weak transcription	Gastric	stomach
34	chr12:11159400-11182000	Weak transcription	NHEK	skin
35	chr12:11159600-11178200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr12:11161400-11178200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr12:11161400-11179200	Weak transcription	Fetal Kidney	kidney
38	chr12:11162400-11172800	Weak transcription	Fetal Brain Female	brain
39	chr12:11162600-11167800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr12:11163400-11177600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr12:11163400-11178000	Weak transcription	GM12878-XiMat	blood
42	chr12:11163600-11178800	Weak transcription	Ovary	ovary
43	chr12:11163800-11178000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr12:11164400-11178600	Weak transcription	Fetal Thymus	thymus
45	chr12:11164600-11168200	Weak transcription	Stomach Mucosa	stomach
46	chr12:11164800-11171800	Weak transcription	Lung	lung
47	chr12:11165000-11170000	Weak transcription	Fetal Muscle Trunk	muscle
48	chr12:11165000-11180800	Weak transcription	HSMM	muscle
49	chr12:11165200-11170800	Enhancers	Brain Substantia Nigra	brain
50	chr12:11165400-11167600	Enhancers	Brain Inferior Temporal Lobe	brain

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