Variant report

Variant	rs112996296
Chromosome Location	chr12:11168892-11168893
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:11009323..11011109-chr12:11168207..11170860,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:21 , 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	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
13	esv8805	chr12:11166558-11222811	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
14	esv3383115	chr12:11166848-11222150	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
15	esv1804289	chr12:11166879-11294110	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
16	esv7343	chr12:11167352-11223285	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
17	esv3389107	chr12:11167826-11228448	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
18	esv3347626	chr12:11167851-11223280	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
19	nsv8917	chr12:11168232-11293747	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
20	esv1804220	chr12:11168557-11243887	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
21	esv1827548	chr12:11168557-11277324	Weak transcription ZNF genes & repeats Strong transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 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	chr12:11136400-11180200	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr12:11136600-11180200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr12:11136600-11196400	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr12:11137400-11203000	Weak transcription	Hela-S3	cervix
7	chr12:11143400-11178800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr12:11145400-11177600	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr12:11147000-11178600	Weak transcription	Fetal Stomach	stomach
10	chr12:11147000-11185400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr12:11147200-11169200	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr12:11147200-11171200	Weak transcription	Primary hematopoietic stem cells	blood
13	chr12:11147200-11176200	Weak transcription	Aorta	Aorta
14	chr12:11147200-11180400	Weak transcription	Pancreas	Pancrea
15	chr12:11148400-11178200	Weak transcription	Dnd41	blood
16	chr12:11154000-11169000	Weak transcription	Primary T cells from cord blood	blood
17	chr12:11154200-11174200	Weak transcription	Primary B cells from cord blood	blood
18	chr12:11154200-11178000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr12:11154200-11178200	Weak transcription	A549	lung
20	chr12:11154200-11178800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr12:11159400-11182000	Weak transcription	NHEK	skin
22	chr12:11159600-11178200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr12:11161400-11178200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr12:11161400-11179200	Weak transcription	Fetal Kidney	kidney
25	chr12:11162400-11172800	Weak transcription	Fetal Brain Female	brain
26	chr12:11163400-11177600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr12:11163400-11178000	Weak transcription	GM12878-XiMat	blood
28	chr12:11163600-11178800	Weak transcription	Ovary	ovary
29	chr12:11163800-11178000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr12:11164400-11178600	Weak transcription	Fetal Thymus	thymus
31	chr12:11164800-11171800	Weak transcription	Lung	lung
32	chr12:11165000-11170000	Weak transcription	Fetal Muscle Trunk	muscle
33	chr12:11165000-11180800	Weak transcription	HSMM	muscle
34	chr12:11165200-11170800	Enhancers	Brain Substantia Nigra	brain
35	chr12:11165400-11180200	Weak transcription	Esophagus	oesophagus
36	chr12:11165600-11174200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr12:11166000-11192000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr12:11166200-11210000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr12:11166400-11170600	Enhancers	Brain Hippocampus Middle	brain
40	chr12:11166400-11170800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
41	chr12:11166600-11199600	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr12:11167000-11169000	Weak transcription	Brain Anterior Caudate	brain
43	chr12:11167000-11178200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr12:11167200-11169400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr12:11167400-11169800	Enhancers	Fetal Intestine Large	intestine
46	chr12:11167400-11170200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr12:11167400-11201800	Weak transcription	Stomach Smooth Muscle	stomach
48	chr12:11167600-11169400	Enhancers	Sigmoid Colon	Sigmoid Colon
49	chr12:11167600-11170200	Enhancers	Fetal Intestine Small	intestine
50	chr12:11167600-11178000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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