Variant report

Variant	rs8044911
Chromosome Location	chr16:30513744-30513745
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11574943	0.81[AFR][1000 genomes]
rs34583171	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34903247	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7198640	1.00[AMR][1000 genomes]

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	nsv532531	chr16:30370550-30581820	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	113 gene(s)	inside rSNPs	diseases
2	nsv1062456	chr16:30442166-31253997	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
3	nsv542898	chr16:30442166-31253997	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:30485800-30521400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr16:30486800-30533400	Weak transcription	Esophagus	oesophagus
3	chr16:30487000-30534800	Strong transcription	Primary neutrophils fromperipheralblood	blood
4	chr16:30489000-30534000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr16:30490000-30518800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr16:30490600-30521000	Weak transcription	Colonic Mucosa	Colon
7	chr16:30490800-30534600	Strong transcription	Thymus	Thymus
8	chr16:30491000-30534000	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr16:30491600-30533800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr16:30492200-30534600	Strong transcription	Fetal Thymus	thymus
11	chr16:30496800-30518400	Strong transcription	Primary T cells from cord blood	blood
12	chr16:30500400-30527800	Weak transcription	Gastric	stomach
13	chr16:30503400-30534000	Strong transcription	Primary T helper cells fromperipheralblood	blood
14	chr16:30503600-30534600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
15	chr16:30504400-30533400	Strong transcription	Primary T helper cells PMA-I stimulated	--
16	chr16:30505000-30534000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr16:30505000-30534400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr16:30506000-30519800	Weak transcription	Lung	lung
19	chr16:30507800-30515400	Weak transcription	Duodenum Mucosa	Duodenum
20	chr16:30507800-30526600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr16:30507800-30534000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr16:30508800-30517200	Weak transcription	Small Intestine	intestine
23	chr16:30508800-30535600	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr16:30509600-30532000	Strong transcription	Primary T helper naive cells from peripheral blood	blood
25	chr16:30509800-30528400	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr16:30510200-30515000	Weak transcription	Liver	Liver
27	chr16:30510200-30520600	Weak transcription	Fetal Intestine Small	intestine
28	chr16:30510600-30515600	Strong transcription	Primary T cells fromperipheralblood	blood
29	chr16:30510800-30514600	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr16:30510800-30516600	Weak transcription	Fetal Muscle Leg	muscle
31	chr16:30510800-30518000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr16:30510800-30535800	Weak transcription	Right Atrium	heart
33	chr16:30511000-30514600	Weak transcription	Primary B cells from cord blood	blood
34	chr16:30511000-30514600	Weak transcription	Primary hematopoietic stem cells	blood
35	chr16:30511000-30515400	Weak transcription	K562	blood
36	chr16:30511000-30516600	Weak transcription	Dnd41	blood
37	chr16:30511000-30521600	Weak transcription	Rectal Smooth Muscle	rectum
38	chr16:30511800-30517000	Strong transcription	Primary T killer memory cells from peripheral blood	blood
39	chr16:30511800-30519200	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr16:30512000-30534000	Strong transcription	Monocytes-CD14+_RO01746	blood
41	chr16:30512400-30515600	Weak transcription	Spleen	Spleen
42	chr16:30513400-30514400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
43	chr16:30513400-30514600	Weak transcription	GM12878-XiMat	blood
44	chr16:30513400-30515000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr16:30513600-30514400	Weak transcription	Primary B cells from peripheral blood	blood

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