Variant report

Variant	rs3751847
Chromosome Location	chr16:30536672-30536673
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:24)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:24 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:30535819..30539359-chr16:30595521..30599698,5	K562	blood:
2	chr16:30519347..30521723-chr16:30536398..30538238,3	MCF-7	breast:
3	chr16:30521353..30524779-chr16:30533679..30536842,3	K562	blood:
4	chr16:30438703..30440899-chr16:30535317..30537020,2	MCF-7	breast:
5	chr16:30440009..30443197-chr16:30535853..30539988,5	K562	blood:
6	chr16:30535862..30538141-chr16:30667987..30671632,3	K562	blood:
7	chr16:30453602..30463168-chr16:30533711..30543502,36	MCF-7	breast:
8	chr16:30535183..30540797-chr16:30579748..30584975,15	MCF-7	breast:
9	chr16:30490143..30492856-chr16:30536156..30538564,2	MCF-7	breast:
10	chr16:30458013..30461181-chr16:30533597..30537188,4	K562	blood:
11	chr16:30534593..30542459-chr16:30576363..30586049,22	MCF-7	breast:
12	chr16:30534557..30548684-chr16:30561877..30572653,49	MCF-7	breast:
13	chr16:30534881..30538738-chr16:30669014..30672874,5	MCF-7	breast:
14	chr16:30427799..30431834-chr16:30534294..30540593,7	MCF-7	breast:
15	chr16:30536312..30540010-chr16:30593652..30599869,13	MCF-7	breast:
16	chr16:30460970..30462598-chr16:30535182..30537839,2	MCF-7	breast:
17	chr16:30536066..30537954-chr16:30620063..30621893,2	MCF-7	breast:
18	chr16:30513905..30517133-chr16:30536208..30538524,4	MCF-7	breast:
19	chr16:30455473..30459331-chr16:30536494..30540885,5	K562	blood:
20	chr16:30535779..30539932-chr16:30594459..30598426,6	MCF-7	breast:
21	chr16:30520573..30524567-chr16:30535660..30540448,6	MCF-7	breast:
22	chr16:30439037..30443694-chr16:30535718..30544524,17	MCF-7	breast:
23	chr16:30453263..30460635-chr16:30534974..30549190,40	MCF-7	breast:
24	chr16:30535554..30537885-chr16:30967813..30969836,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000261588	Chromatin interaction
ENSG00000197162	Chromatin interaction
ENSG00000169951	Chromatin interaction
ENSG00000260869	Chromatin interaction
ENSG00000239791	Chromatin interaction
ENSG00000229809	Chromatin interaction
ENSG00000099381	Chromatin interaction
ENSG00000005844	Chromatin interaction
ENSG00000260487	Chromatin interaction
ENSG00000179958	Chromatin interaction
ENSG00000266305	Chromatin interaction
ENSG00000156853	Chromatin interaction
ENSG00000179918	Chromatin interaction
ENSG00000199787	Chromatin interaction
ENSG00000156860	Chromatin interaction
ENSG00000260167	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs3794703	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72793342	0.95[ASN][1000 genomes]
rs8050463	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
4	nsv905726	chr16:30528272-30546488	Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:30518200-30537200	Weak transcription	Brain Substantia Nigra	brain
2	chr16:30524800-30537200	Weak transcription	Dnd41	blood
3	chr16:30527600-30537000	Weak transcription	Primary hematopoietic stem cells	blood
4	chr16:30530200-30537400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr16:30531200-30537200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr16:30531400-30537200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr16:30532000-30536800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr16:30532000-30537200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr16:30532200-30537200	Weak transcription	NHEK	skin
10	chr16:30532400-30537200	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr16:30532600-30537200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr16:30532800-30537000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr16:30532800-30537400	Enhancers	Liver	Liver
14	chr16:30533400-30537000	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr16:30533600-30537000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr16:30533800-30537000	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr16:30533800-30537200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr16:30534000-30536800	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr16:30534000-30536800	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr16:30534000-30537000	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr16:30534000-30537000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr16:30534000-30537000	Weak transcription	Stomach Mucosa	stomach
23	chr16:30534000-30537000	Weak transcription	GM12878-XiMat	blood
24	chr16:30534000-30537200	Weak transcription	Primary T cells from cord blood	blood
25	chr16:30534000-30537200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr16:30534000-30537200	Weak transcription	Fetal Kidney	kidney
27	chr16:30534000-30537400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr16:30534400-30537000	Genic enhancers	Fetal Intestine Small	intestine
29	chr16:30534400-30537200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr16:30534400-30537200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr16:30534600-30536800	Weak transcription	Primary B cells from peripheral blood	blood
32	chr16:30534600-30537000	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr16:30534600-30537000	Weak transcription	Fetal Thymus	thymus
34	chr16:30534600-30537200	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr16:30534600-30537200	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr16:30534600-30537200	Weak transcription	Thymus	Thymus
37	chr16:30534800-30537000	Weak transcription	Primary neutrophils fromperipheralblood	blood
38	chr16:30535200-30536800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr16:30535200-30537200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr16:30535200-30537800	Enhancers	Fetal Heart	heart
41	chr16:30535400-30536800	ZNF genes & repeats	Fetal Intestine Large	intestine
42	chr16:30535400-30537000	Genic enhancers	Fetal Muscle Leg	muscle
43	chr16:30535400-30537200	Genic enhancers	Skeletal Muscle Male	skeletal muscle
44	chr16:30535400-30537400	Weak transcription	Aorta	Aorta
45	chr16:30535600-30536800	Strong transcription	H1 Cell Line	embryonic stem cell
46	chr16:30535600-30536800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr16:30535600-30536800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr16:30535600-30536800	Genic enhancers	Pancreas	Pancrea
49	chr16:30535600-30536800	Genic enhancers	Spleen	Spleen
50	chr16:30535600-30537000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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