Variant report

Variant	rs4991749
Chromosome Location	chr12:51681407-51681408
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	chr12:51679852..51682004-chr12:51687950..51689517,2	K562	blood:
2	chr12:51418715..51421424-chr12:51679999..51682446,2	K562	blood:

Variant related genes	Relation type
ENSG00000110911	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs4367989	0.96[AFR][1000 genomes]
rs7953789	0.96[AFR][1000 genomes]
rs7977678	0.96[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51664600-51683200	Weak transcription	Spleen	Spleen
2	chr12:51664600-51692800	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr12:51664800-51685800	Weak transcription	Esophagus	oesophagus
4	chr12:51673200-51685200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr12:51673400-51684800	Weak transcription	GM12878-XiMat	blood
6	chr12:51673800-51685400	Strong transcription	Primary T helper cells fromperipheralblood	blood
7	chr12:51673800-51697600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr12:51674000-51683400	Strong transcription	Primary neutrophils fromperipheralblood	blood
9	chr12:51674000-51698400	Strong transcription	Fetal Thymus	thymus
10	chr12:51674000-51701400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr12:51674200-51685400	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr12:51674200-51685600	Strong transcription	Primary T helper cells PMA-I stimulated	--
13	chr12:51674200-51704000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr12:51674400-51685200	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr12:51674400-51698400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr12:51674400-51698600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr12:51674400-51698800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr12:51674400-51700600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
19	chr12:51674600-51685800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr12:51674600-51686000	Strong transcription	Primary T cells from cord blood	blood
21	chr12:51675200-51685600	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr12:51675800-51681800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr12:51676600-51685800	Strong transcription	Primary T helper naive cells from peripheral blood	blood
24	chr12:51676800-51691000	Weak transcription	Placenta	Placenta
25	chr12:51678000-51697600	Weak transcription	Adipose Nuclei	Adipose
26	chr12:51678800-51693000	Weak transcription	Duodenum Mucosa	Duodenum
27	chr12:51679000-51681800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr12:51679200-51685000	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr12:51679800-51685600	Strong transcription	Primary B cells from peripheral blood	blood
30	chr12:51679800-51686800	Strong transcription	Thymus	Thymus
31	chr12:51680000-51682000	Weak transcription	Primary B cells from cord blood	blood
32	chr12:51680000-51687600	Weak transcription	Primary hematopoietic stem cells	blood
33	chr12:51680400-51681800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr12:51680600-51701600	Weak transcription	Small Intestine	intestine
35	chr12:51681200-51682800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr12:51681200-51696600	Strong transcription	Primary T cells fromperipheralblood	blood

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