Variant report

Variant	rs12933287
Chromosome Location	chr16:81778221-81778222
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	chr16:81773903..81776185-chr16:81778160..81779712,2	K562	blood:
2	chr16:81777894..81779914-chr17:57921380..57923077,2	MCF-7	breast:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1128658	1.00[ASN][1000 genomes]
rs12103192	1.00[ASN][1000 genomes]
rs56812592	1.00[ASN][1000 genomes]
rs73600445	1.00[ASN][1000 genomes]
rs8055149	1.00[ASN][1000 genomes]
rs9972695	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948448	chr16:81198147-81906766	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	37 gene(s)	inside rSNPs	diseases
2	nsv523172	chr16:81758463-81778491	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv573363	chr16:81758463-81780565	Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv457577	chr16:81773209-81808233	Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv573364	chr16:81773209-81808233	Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81772200-81779000	Weak transcription	Dnd41	blood
2	chr16:81772200-81779200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr16:81772200-81779200	Weak transcription	Brain Hippocampus Middle	brain
4	chr16:81772200-81779600	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr16:81772200-81779600	Weak transcription	Right Atrium	heart
6	chr16:81772200-81779800	Weak transcription	Esophagus	oesophagus
7	chr16:81772400-81779200	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr16:81772400-81779200	Weak transcription	Hela-S3	cervix
9	chr16:81772400-81779400	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr16:81773000-81779400	Weak transcription	Colonic Mucosa	Colon
11	chr16:81773200-81779600	Weak transcription	Thymus	Thymus
12	chr16:81773400-81779400	Weak transcription	Spleen	Spleen
13	chr16:81774200-81779000	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr16:81774200-81779000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr16:81774200-81779400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr16:81774200-81779600	Weak transcription	Placenta	Placenta
17	chr16:81774600-81779400	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr16:81774800-81778800	Enhancers	Primary neutrophils fromperipheralblood	blood
19	chr16:81774800-81779200	Weak transcription	Fetal Thymus	thymus
20	chr16:81774800-81779400	Weak transcription	Duodenum Mucosa	Duodenum
21	chr16:81774800-81779400	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr16:81775000-81778600	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr16:81775000-81778800	Weak transcription	Primary hematopoietic stem cells	blood
24	chr16:81775000-81779000	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr16:81775000-81779000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr16:81775000-81779200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr16:81775000-81779200	Weak transcription	GM12878-XiMat	blood
28	chr16:81775000-81779400	Weak transcription	HUVEC	blood vessel
29	chr16:81775200-81779200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr16:81776200-81778400	Weak transcription	Primary B cells from cord blood	blood
31	chr16:81777200-81779000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr16:81777400-81778800	Weak transcription	Primary B cells from peripheral blood	blood
33	chr16:81777400-81779600	Weak transcription	HMEC	breast
34	chr16:81777800-81779400	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr16:81778200-81779000	Enhancers	K562	blood

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