Variant report

Variant	rs4500754
Chromosome Location	chr16:30376691-30376692
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr16:30376364-30376778	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:30374634..30377122-chr16:30405649..30407903,2	K562	blood:
2	chr16:30376477..30383094-chr16:30415979..30420163,8	MCF-7	breast:
3	chr16:30368801..30385970-chr16:30403825..30413311,30	MCF-7	breast:
4	chr16:30376626..30379434-chr16:30417426..30420453,4	MCF-7	breast:
5	chr16:30374941..30377851-chr16:30378291..30382008,9	K562	blood:

No data

Variant related genes	Relation type
TBC1D10B	TF binding region
ENSG00000180035	Chromatin interaction
ENSG00000179965	Chromatin interaction
ENSG00000169221	Chromatin interaction
ENSG00000180096	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs35453059	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1065915	chr16:29967090-30486120	Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	229 gene(s)	inside rSNPs	diseases
2	nsv542897	chr16:29967090-30486120	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	229 gene(s)	inside rSNPs	diseases
3	esv2758420	chr16:30073955-30383280	Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	140 gene(s)	inside rSNPs	diseases
4	esv2758642	chr16:30073955-30383280	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	140 gene(s)	inside rSNPs	diseases
5	nsv1056897	chr16:30363683-30457504	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	88 gene(s)	inside rSNPs	diseases
6	nsv905724	chr16:30368591-30438930	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
7	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
8	nsv827612	chr16:30371538-30429862	Enhancers Transcr. at gene 5' and 3' Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases
9	esv1794891	chr16:30376269-30382642	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
10	esv1795117	chr16:30376269-30382642	Flanking Active TSS Genic enhancers Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
11	esv1803705	chr16:30376269-30382642	Genic enhancers Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4500754	YPEL3	cis	cerebellum	SCAN
rs4500754	BCL7C	cis	cerebellum	SCAN

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:30367400-30377200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr16:30367400-30377200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr16:30367600-30378600	Weak transcription	Fetal Kidney	kidney
4	chr16:30367600-30378600	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr16:30367600-30378800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr16:30367800-30378000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr16:30368000-30376800	Strong transcription	Skeletal Muscle Male	skeletal muscle
8	chr16:30368000-30378600	Strong transcription	Fetal Stomach	stomach
9	chr16:30368200-30376800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr16:30368200-30377200	Strong transcription	Sigmoid Colon	Sigmoid Colon
11	chr16:30368200-30377600	Strong transcription	Duodenum Smooth Muscle	Duodenum
12	chr16:30368200-30378000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr16:30368200-30378200	Strong transcription	Lung	lung
14	chr16:30368200-30378600	Strong transcription	Fetal Intestine Small	intestine
15	chr16:30368200-30379000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr16:30368400-30377200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr16:30368400-30377200	Strong transcription	Colon Smooth Muscle	Colon
18	chr16:30368400-30377400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr16:30368400-30377800	Strong transcription	Thymus	Thymus
20	chr16:30368400-30378000	Strong transcription	Fetal Muscle Leg	muscle
21	chr16:30368400-30378000	Strong transcription	Fetal Thymus	thymus
22	chr16:30368400-30378200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr16:30368400-30378800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr16:30368400-30378800	Weak transcription	HSMMtube	muscle
25	chr16:30368600-30377200	Strong transcription	Duodenum Mucosa	Duodenum
26	chr16:30368600-30377600	Strong transcription	Primary T cells fromperipheralblood	blood
27	chr16:30368600-30377800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr16:30368600-30378000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr16:30368600-30378000	Strong transcription	Monocytes-CD14+_RO01746	blood
30	chr16:30368600-30378400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr16:30368800-30377000	Strong transcription	Primary B cells from peripheral blood	blood
32	chr16:30368800-30377000	Strong transcription	Primary T helper cells fromperipheralblood	blood
33	chr16:30368800-30377200	Strong transcription	Osteobl	bone
34	chr16:30368800-30378600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr16:30369000-30377200	Strong transcription	Adipose Nuclei	Adipose
36	chr16:30369000-30377400	Strong transcription	Rectal Mucosa Donor 31	rectum
37	chr16:30369000-30378200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
38	chr16:30369000-30378200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr16:30369200-30377600	Strong transcription	Rectal Mucosa Donor 29	rectum
40	chr16:30369200-30378000	Strong transcription	Primary monocytes fromperipheralblood	blood
41	chr16:30369200-30378000	Strong transcription	Primary neutrophils fromperipheralblood	blood
42	chr16:30369200-30378400	Strong transcription	Fetal Intestine Large	intestine
43	chr16:30369400-30377200	Strong transcription	Liver	Liver
44	chr16:30369400-30380000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr16:30370000-30378000	Weak transcription	Psoas Muscle	Psoas
46	chr16:30370400-30378000	Weak transcription	Stomach Mucosa	stomach
47	chr16:30370600-30378800	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr16:30370800-30379000	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr16:30371000-30376800	Weak transcription	HSMM	muscle
50	chr16:30371000-30379200	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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