Variant report

Variant	rs11574943
Chromosome Location	chr16:30507339-30507340
allele	C/T
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	ELF1	chr16:30507190-30507518	K562	blood:	n/a	n/a
2	POLR2A	chr16:30507208-30507682	GM12878	blood:	n/a	n/a
3	POLR2A	chr16:30507181-30507913	GM12892	blood:	n/a	n/a
4	POLR2A	chr16:30507281-30507850	GM12892	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	chr16:30501792..30507626-chr16:30509073..30512494,5	MCF-7	breast:

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

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17839542	1.00[MEX][hapmap]
rs17839547	1.00[MEX][hapmap]
rs34583171	0.81[AFR][1000 genomes]
rs34903247	0.81[AFR][1000 genomes]
rs73534211	0.83[AMR][1000 genomes]
rs8044911	0.81[AFR][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:42 , 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	chr16:30503400-30508400	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr16:30503400-30534000	Strong transcription	Primary T helper cells fromperipheralblood	blood
22	chr16:30503600-30507400	Strong transcription	Primary T helper naive cells from peripheral blood	blood
23	chr16:30503600-30534600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
24	chr16:30504000-30510400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr16:30504400-30533400	Strong transcription	Primary T helper cells PMA-I stimulated	--
26	chr16:30505000-30507800	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr16:30505000-30510600	Genic enhancers	Primary T cells fromperipheralblood	blood
28	chr16:30505000-30512400	Strong transcription	Spleen	Spleen
29	chr16:30505000-30534000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr16:30505000-30534400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr16:30505200-30508000	Strong transcription	Primary hematopoietic stem cells	blood
32	chr16:30505200-30510800	Strong transcription	Rectal Mucosa Donor 29	rectum
33	chr16:30505200-30513400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr16:30505400-30508000	Strong transcription	Primary T killer memory cells from peripheral blood	blood
35	chr16:30505600-30511000	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr16:30506000-30519800	Weak transcription	Lung	lung
37	chr16:30506200-30510600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr16:30506400-30508800	Weak transcription	K562	blood
39	chr16:30506400-30509200	Weak transcription	Liver	Liver
40	chr16:30507200-30507400	Strong transcription	GM12878-XiMat	blood
41	chr16:30507200-30507800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
42	chr16:30507200-30507800	Strong transcription	Duodenum Mucosa	Duodenum

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