Variant report

Variant	rs34583171
Chromosome Location	chr16:30505956-30505957
allele	A/G
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	ZNF263	chr16:30505835-30506399	HEK293-T-REx	kidney:	n/a	chr16:30506196-30506205 chr16:30506186-30506207
2	POLR2A	chr16:30505800-30506149	HL-60	blood:	n/a	n/a
3	POLR2A	chr16:30505739-30506134	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:30456052..30458513-chr16:30505920..30508279,2	MCF-7	breast:
2	chr16:30504653..30507506-chr16:30581776..30584214,2	MCF-7	breast:
3	chr16:30498812..30500605-chr16:30504193..30506800,2	MCF-7	breast:
4	chr16:30503253..30506982-chr16:30535981..30538898,3	MCF-7	breast:
5	chr16:30501792..30507626-chr16:30509073..30512494,5	MCF-7	breast:

Variant related genes	Relation type
ITGAL	TF binding region
ENSG00000179918	Chromatin interaction
ENSG00000239791	Chromatin interaction
ENSG00000005844	Chromatin interaction
ENSG00000169957	Chromatin interaction
ENSG00000229809	Chromatin interaction
ENSG00000261332	Chromatin interaction

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]
rs34903247	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7198640	1.00[AMR][1000 genomes]
rs8044911	0.94[AFR][1000 genomes];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:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:30485800-30521400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr16:30486000-30510600	Weak transcription	Rectal Smooth Muscle	rectum
3	chr16:30486800-30533400	Weak transcription	Esophagus	oesophagus
4	chr16:30487000-30534800	Strong transcription	Primary neutrophils fromperipheralblood	blood
5	chr16:30489000-30534000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr16:30490000-30518800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr16:30490600-30521000	Weak transcription	Colonic Mucosa	Colon
8	chr16:30490800-30534600	Strong transcription	Thymus	Thymus
9	chr16:30491000-30513600	Strong transcription	Primary B cells from peripheral blood	blood
10	chr16:30491000-30534000	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr16:30491600-30511200	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr16:30491600-30533800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr16:30492200-30534600	Strong transcription	Fetal Thymus	thymus
14	chr16:30496800-30518400	Strong transcription	Primary T cells from cord blood	blood
15	chr16:30498600-30509200	Weak transcription	Fetal Intestine Small	intestine
16	chr16:30499400-30507800	Strong transcription	Primary B cells from cord blood	blood
17	chr16:30500400-30527800	Weak transcription	Gastric	stomach
18	chr16:30500600-30507400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr16:30500800-30510400	Weak transcription	Dnd41	blood
20	chr16:30503400-30507200	Weak transcription	GM12878-XiMat	blood
21	chr16:30503400-30508400	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr16:30503400-30534000	Strong transcription	Primary T helper cells fromperipheralblood	blood
23	chr16:30503600-30507400	Strong transcription	Primary T helper naive cells from peripheral blood	blood
24	chr16:30503600-30534600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
25	chr16:30504000-30510400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr16:30504400-30533400	Strong transcription	Primary T helper cells PMA-I stimulated	--
27	chr16:30505000-30507800	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr16:30505000-30510600	Genic enhancers	Primary T cells fromperipheralblood	blood
29	chr16:30505000-30512400	Strong transcription	Spleen	Spleen
30	chr16:30505000-30534000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr16:30505000-30534400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr16:30505200-30506000	Strong transcription	Lung	lung
33	chr16:30505200-30508000	Strong transcription	Primary hematopoietic stem cells	blood
34	chr16:30505200-30510800	Strong transcription	Rectal Mucosa Donor 29	rectum
35	chr16:30505200-30513400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr16:30505400-30506200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr16:30505400-30506400	Strong transcription	Liver	Liver
38	chr16:30505400-30506600	Strong transcription	Duodenum Mucosa	Duodenum
39	chr16:30505400-30508000	Strong transcription	Primary T killer memory cells from peripheral blood	blood
40	chr16:30505600-30506200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr16:30505600-30506400	Enhancers	K562	blood
42	chr16:30505600-30511000	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr16:30505800-30506000	Bivalent Enhancer	NHEK	skin
44	chr16:30505800-30507200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood

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