Variant report

Variant	rs556792542
Chromosome Location	chr12:118792537-118792538
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:118789460..118791189-chr12:118792284..118794787,2	K562	blood:
2	chr12:118573188..118576154-chr12:118790437..118793142,2	MCF-7	breast:
3	chr12:118791808..118793496-chr12:118793653..118795159,2	K562	blood:
4	chr12:118789693..118801109-chr12:118805205..118813455,21	K562	blood:
5	chr12:118791019..118798938-chr12:118809011..118813946,9	MCF-7	breast:
6	chr12:118755879..118758733-chr12:118792249..118794715,2	K562	blood:

Variant related genes	Relation type
ENSG00000176834	Chromatin interaction
ENSG00000089220	Chromatin interaction
ENSG00000135090	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053785	chr12:118490955-118874194	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1040061	chr12:118648415-118800437	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv1053417	chr12:118688969-118808530	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv899547	chr12:118791441-118896304	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:118720800-118793600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr12:118775800-118792600	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr12:118781000-118793600	Weak transcription	NHEK	skin
4	chr12:118783600-118793000	Weak transcription	Osteobl	bone
5	chr12:118783600-118794400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr12:118784200-118793600	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr12:118785000-118792600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr12:118785000-118794600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr12:118785400-118793000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr12:118785400-118794600	Weak transcription	Aorta	Aorta
11	chr12:118786000-118793400	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr12:118786000-118794400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr12:118786200-118793400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr12:118786200-118793400	Weak transcription	Stomach Mucosa	stomach
15	chr12:118786200-118793600	Weak transcription	Brain Hippocampus Middle	brain
16	chr12:118786200-118793600	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr12:118786200-118793800	Weak transcription	Colon Smooth Muscle	Colon
18	chr12:118786600-118793800	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr12:118789200-118793200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr12:118789200-118793600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr12:118789400-118793200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr12:118789600-118793200	Weak transcription	Duodenum Mucosa	Duodenum
23	chr12:118790400-118792600	Strong transcription	Primary T cells from cord blood	blood
24	chr12:118790400-118792600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr12:118791000-118793000	Weak transcription	NH-A	brain
26	chr12:118791000-118793200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr12:118791000-118793200	Weak transcription	Liver	Liver
28	chr12:118791200-118793400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr12:118791200-118793400	Enhancers	NHDF-Ad	bronchial
30	chr12:118791400-118792800	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr12:118791400-118793400	Weak transcription	Brain Substantia Nigra	brain
32	chr12:118791600-118792600	Strong transcription	Primary B cells from peripheral blood	blood
33	chr12:118791600-118792600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr12:118791600-118793000	Weak transcription	Primary T helper cells fromperipheralblood	blood
35	chr12:118791600-118793200	Weak transcription	Brain Angular Gyrus	brain
36	chr12:118791600-118793200	Weak transcription	NHLF	lung
37	chr12:118791600-118793400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr12:118791600-118793400	Weak transcription	Monocytes-CD14+_RO01746	blood
39	chr12:118791600-118794600	Weak transcription	HepG2	liver
40	chr12:118791600-118797400	Weak transcription	Gastric	stomach
41	chr12:118791800-118793200	ZNF genes & repeats	GM12878-XiMat	blood
42	chr12:118792000-118792800	ZNF genes & repeats	Fetal Intestine Small	intestine
43	chr12:118792000-118794200	ZNF genes & repeats	K562	blood
44	chr12:118792200-118792600	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr12:118792200-118792600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
46	chr12:118792200-118792600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr12:118792200-118792600	ZNF genes & repeats	Fetal Thymus	thymus
48	chr12:118792200-118792600	ZNF genes & repeats	Thymus	Thymus
49	chr12:118792200-118792800	ZNF genes & repeats	Primary B cells from cord blood	blood
50	chr12:118792200-118792800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood

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