Variant report

Variant	rs554583216
Chromosome Location	chr12:51691430-51691431
allele	-/A
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	USF1	chr12:51691331-51691577	K562	blood:	n/a	n/a
2	MAX	chr12:51691330-51691541	K562	blood:	n/a	chr12:51691431-51691442

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:51662740..51664596-chr12:51691397..51693911,2	MCF-7	breast:
2	chr12:51691403..51693767-chr12:51694512..51696537,2	K562	blood:

Variant related genes	Relation type
BIN2	TF binding region
ENSG00000170545	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51664600-51692800	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr12:51673800-51697600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr12:51674000-51698400	Strong transcription	Fetal Thymus	thymus
4	chr12:51674000-51701400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr12:51674200-51704000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr12:51674400-51698400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr12:51674400-51698600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr12:51674400-51698800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr12:51674400-51700600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
10	chr12:51678000-51697600	Weak transcription	Adipose Nuclei	Adipose
11	chr12:51678800-51693000	Weak transcription	Duodenum Mucosa	Duodenum
12	chr12:51680600-51701600	Weak transcription	Small Intestine	intestine
13	chr12:51681200-51696600	Strong transcription	Primary T cells fromperipheralblood	blood
14	chr12:51681800-51714200	Weak transcription	Gastric	stomach
15	chr12:51683600-51693000	Weak transcription	Spleen	Spleen
16	chr12:51685800-51697600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr12:51686200-51702800	Weak transcription	Colonic Mucosa	Colon
18	chr12:51686600-51698800	Strong transcription	Primary B cells from peripheral blood	blood
19	chr12:51686800-51692800	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr12:51686800-51698600	Strong transcription	Primary T cells from cord blood	blood
21	chr12:51686800-51701200	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr12:51687000-51703800	Strong transcription	Primary neutrophils fromperipheralblood	blood
23	chr12:51687000-51707400	Strong transcription	Primary monocytes fromperipheralblood	blood
24	chr12:51687200-51696800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr12:51687200-51697200	Strong transcription	Primary T helper naive cells from peripheral blood	blood
26	chr12:51687800-51697200	Strong transcription	Primary T helper cells fromperipheralblood	blood
27	chr12:51687800-51700000	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr12:51687800-51708000	Strong transcription	Thymus	Thymus
29	chr12:51688000-51698400	Strong transcription	Primary T helper cells PMA-I stimulated	--
30	chr12:51688800-51696800	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr12:51689200-51691600	Strong transcription	Primary B cells from cord blood	blood
32	chr12:51689400-51691600	Strong transcription	GM12878-XiMat	blood
33	chr12:51689400-51691800	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr12:51689600-51696000	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr12:51690000-51693000	Weak transcription	Primary hematopoietic stem cells	blood
36	chr12:51691000-51692800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr12:51691000-51696800	Strong transcription	Placenta	Placenta
38	chr12:51691200-51692800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr12:51691200-51694200	Weak transcription	K562	blood

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