Variant report

Variant	rs35453059
Chromosome Location	chr16:30528079-30528080
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:15)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:15 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SMC3	chr16:30527934-30528103	K562	blood:	n/a	n/a
2	MAX	chr16:30527857-30528191	K562	blood:	n/a	n/a
3	CTCF	chr16:30527940-30528090	HepG2	liver:	n/a	n/a
4	BHLHE40	chr16:30528035-30528112	K562	blood:	n/a	n/a
5	MYC	chr16:30527965-30528091	K562	blood:	n/a	n/a
6	YY1	chr16:30527881-30528092	K562	blood:	n/a	n/a
7	CTCF	chr16:30527876-30528098	K562	blood:	n/a	n/a
8	POLR2A	chr16:30527808-30528436	HL-60	blood:	n/a	n/a
9	CTCF	chr16:30527813-30528124	K562	blood:	n/a	n/a
10	CTCF	chr16:30527841-30528162	K562	blood:	n/a	n/a
11	RAD21	chr16:30527839-30528106	HepG2	liver:	n/a	n/a
12	CTCF	chr16:30527818-30528084	K562	blood:	n/a	n/a
13	CTCF	chr16:30527817-30528119	K562	blood:	n/a	n/a
14	CTCF	chr16:30527940-30528090	K562	blood:	n/a	n/a
15	RAD21	chr16:30527877-30528109	K562	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:30522910..30525325-chr16:30527321..30530245,2	K562	blood:
2	chr16:30526720..30528233-chr16:30536489..30538344,2	K562	blood:
3	chr16:30521739..30524331-chr16:30526621..30529422,2	MCF-7	breast:
4	chr16:30522903..30525325-chr16:30527321..30528970,2	K562	blood:

No data

Variant related genes	Relation type
ITGAL	TF binding region
ENSG00000169957	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs2230434	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4500754	1.00[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:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:30486800-30533400	Weak transcription	Esophagus	oesophagus
2	chr16:30487000-30534800	Strong transcription	Primary neutrophils fromperipheralblood	blood
3	chr16:30489000-30534000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr16:30490800-30534600	Strong transcription	Thymus	Thymus
5	chr16:30491000-30534000	Strong transcription	Primary monocytes fromperipheralblood	blood
6	chr16:30491600-30533800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr16:30492200-30534600	Strong transcription	Fetal Thymus	thymus
8	chr16:30503400-30534000	Strong transcription	Primary T helper cells fromperipheralblood	blood
9	chr16:30503600-30534600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
10	chr16:30504400-30533400	Strong transcription	Primary T helper cells PMA-I stimulated	--
11	chr16:30505000-30534000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr16:30505000-30534400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr16:30507800-30534000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr16:30508800-30535600	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr16:30509600-30532000	Strong transcription	Primary T helper naive cells from peripheral blood	blood
16	chr16:30509800-30528400	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr16:30510800-30535800	Weak transcription	Right Atrium	heart
18	chr16:30512000-30534000	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr16:30514400-30534600	Strong transcription	Primary B cells from peripheral blood	blood
20	chr16:30516800-30535600	Weak transcription	Brain Hippocampus Middle	brain
21	chr16:30518200-30537200	Weak transcription	Brain Substantia Nigra	brain
22	chr16:30519200-30531000	Weak transcription	Placenta	Placenta
23	chr16:30519600-30533600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr16:30519800-30528400	Strong transcription	Primary B cells from cord blood	blood
25	chr16:30519800-30530000	Strong transcription	Primary T cells from cord blood	blood
26	chr16:30519800-30531400	Strong transcription	Primary T killer memory cells from peripheral blood	blood
27	chr16:30519800-30536400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr16:30520000-30532000	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr16:30520200-30528200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr16:30520600-30534000	Strong transcription	GM12878-XiMat	blood
31	chr16:30520800-30533000	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr16:30522400-30533000	Weak transcription	Colonic Mucosa	Colon
33	chr16:30522400-30533600	Strong transcription	Spleen	Spleen
34	chr16:30522400-30536000	Weak transcription	Rectal Smooth Muscle	rectum
35	chr16:30523200-30533200	Weak transcription	Pancreas	Pancrea
36	chr16:30523600-30533000	Weak transcription	Fetal Intestine Small	intestine
37	chr16:30524800-30535600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr16:30524800-30537200	Weak transcription	Dnd41	blood
39	chr16:30525600-30533000	Weak transcription	Duodenum Mucosa	Duodenum
40	chr16:30526000-30533200	Weak transcription	Stomach Mucosa	stomach
41	chr16:30526400-30530200	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr16:30526600-30530600	Weak transcription	HepG2	liver
43	chr16:30526600-30532000	Strong transcription	Liver	Liver
44	chr16:30527600-30537000	Weak transcription	Primary hematopoietic stem cells	blood
45	chr16:30527800-30528400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr16:30527800-30528600	Strong transcription	Gastric	stomach
47	chr16:30527800-30528600	Strong transcription	Rectal Mucosa Donor 29	rectum
48	chr16:30528000-30528200	Strong transcription	Sigmoid Colon	Sigmoid Colon
49	chr16:30528000-30528400	ZNF genes & repeats	Lung	lung
50	chr16:30528000-30530800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood

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