Variant report

Variant	rs559595718
Chromosome Location	chr12:51697300-51697301
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:51696998..51699958-chr12:51701711..51703812,2	K562	blood:

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	nsv482304	chr12:51653496-51814917	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv469377	chr12:51690751-51733951	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv558877	chr12:51690751-51733951	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv832408	chr12:51696605-51871339	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51673800-51697600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr12:51674000-51698400	Strong transcription	Fetal Thymus	thymus
3	chr12:51674000-51701400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr12:51674200-51704000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr12:51674400-51698400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr12:51674400-51698600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr12:51674400-51698800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr12:51674400-51700600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
9	chr12:51678000-51697600	Weak transcription	Adipose Nuclei	Adipose
10	chr12:51680600-51701600	Weak transcription	Small Intestine	intestine
11	chr12:51681800-51714200	Weak transcription	Gastric	stomach
12	chr12:51685800-51697600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr12:51686200-51702800	Weak transcription	Colonic Mucosa	Colon
14	chr12:51686600-51698800	Strong transcription	Primary B cells from peripheral blood	blood
15	chr12:51686800-51698600	Strong transcription	Primary T cells from cord blood	blood
16	chr12:51686800-51701200	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr12:51687000-51703800	Strong transcription	Primary neutrophils fromperipheralblood	blood
18	chr12:51687000-51707400	Strong transcription	Primary monocytes fromperipheralblood	blood
19	chr12:51687800-51700000	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr12:51687800-51708000	Strong transcription	Thymus	Thymus
21	chr12:51688000-51698400	Strong transcription	Primary T helper cells PMA-I stimulated	--
22	chr12:51691800-51702200	Weak transcription	Rectal Smooth Muscle	rectum
23	chr12:51692600-51698200	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr12:51692800-51698400	Strong transcription	Primary T killer memory cells from peripheral blood	blood
25	chr12:51692800-51698600	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr12:51693000-51698000	Strong transcription	GM12878-XiMat	blood
27	chr12:51693000-51698400	Strong transcription	Primary B cells from cord blood	blood
28	chr12:51693800-51701600	Weak transcription	Duodenum Mucosa	Duodenum
29	chr12:51694800-51701400	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr12:51696000-51698400	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
31	chr12:51696200-51698400	Strong transcription	Spleen	Spleen
32	chr12:51696600-51700400	Weak transcription	A549	lung
33	chr12:51696600-51712400	Genic enhancers	Primary T cells fromperipheralblood	blood
34	chr12:51696800-51698000	Weak transcription	Placenta	Placenta
35	chr12:51696800-51698400	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
36	chr12:51696800-51701600	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr12:51697200-51698400	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
38	chr12:51697200-51699000	Genic enhancers	Primary T helper cells fromperipheralblood	blood
39	chr12:51697200-51699800	Weak transcription	Primary hematopoietic stem cells	blood

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