Variant report

Variant	rs34231527
Chromosome Location	chr16:31505252-31505253
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:61)
Chromatin interactive
region (count:4)
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	chr16:31504310-31505261	HepG2	liver:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:31505237-31505287	SKMC	muscle:	n/a
2	chr16:31505237-31505287	MCF10A-Er-Src	breast:	n/a
3	chr16:31505237-31505287	SK-N-SH	brain:	n/a
4	chr16:31505237-31505287	HRE	kidney:	n/a
5	chr16:31505237-31505287	GM06990	blood:	n/a
6	chr16:31505237-31505287	K562	blood:	n/a
7	chr16:31505237-31505287	GM12892	blood:	n/a
8	chr16:31505237-31505287	Jurkat	blood:	n/a
9	chr16:31505237-31505287	BJ	skin:	n/a
10	chr16:31505237-31505287	HAEpiC	amniotic membrane:	n/a
11	chr16:31505237-31505287	HCT-116	colon:	n/a
12	chr16:31505237-31505287	ProgFib	skin:	n/a
13	chr16:31505237-31505287	IMR90	lung:	fetal
14	chr16:31505237-31505287	HEEpiC	esophagus:	n/a
15	chr16:31505237-31505287	HIPEpiC	eye:	n/a
16	chr16:31505237-31505287	CMK	blood:	n/a
17	chr16:31505237-31505287	T-47D	breast:	n/a
18	chr16:31505237-31505287	HUVEC	blood vessel:	n/a
19	chr16:31505237-31505287	AG04450	lung:	fetal
20	chr16:31505237-31505287	PFSK-1	brain:	n/a
21	chr16:31505237-31505287	U87	brain:	n/a
22	chr16:31505237-31505287	NHBE	bronchial:	n/a
23	chr16:31505237-31505287	AG10803	skin:	n/a
24	chr16:31505237-31505287	GM12891	blood:	n/a
25	chr16:31505237-31505287	Hela-S3	cervix:	n/a
26	chr16:31505237-31505287	SK-N-MC	brain:	n/a
27	chr16:31505237-31505287	AG04449	skin:	fetal
28	chr16:31505237-31505287	HMEC	breast:	n/a
29	chr16:31505237-31505287	Caco-2	colon:	n/a
30	chr16:31505237-31505287	SAEC	small airway:	n/a
31	chr16:31505237-31505287	Hepatocyte	liver:	n/a
32	chr16:31505237-31505287	HNPCEpiC	eye:	n/a
33	chr16:31505237-31505287	NHDF-neo	bronchial:	n/a
34	chr16:31505237-31505287	NT2-D1	testis:	n/a
35	chr16:31505237-31505287	PrEC	prostate:	n/a
36	chr16:31505237-31505287	PANC-1	pancreas:	n/a
37	chr16:31505237-31505287	NH-A	brain:	n/a
38	chr16:31505237-31505287	AoSMC	blood vessel:	n/a
39	chr16:31505237-31505287	NB4	blood:	n/a
40	chr16:31505237-31505287	HEK293	kidney:	embryo
41	chr16:31505237-31505287	BE2_C	brain:	n/a
42	chr16:31505237-31505287	H1-hESC	embryonic stem cell:	embryo
43	chr16:31505237-31505287	GM12878	blood:	n/a
44	chr16:31505237-31505287	ECC-1	luminal epithelium:	n/a
45	chr16:31505237-31505287	HepG2	liver:	n/a
46	chr16:31505237-31505287	GM19239	blood:	n/a
47	chr16:31505237-31505287	ovcar-3	ovarian:	n/a
48	chr16:31505237-31505287	HRPEpiC	eye:	n/a
49	chr16:31505237-31505287	HL-60	blood:	n/a
50	chr16:31505237-31505287	HCM	heart:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr16:31494438..31500083-chr16:31500912..31506203,9	K562	blood:
2	chr16:31503360..31505398-chr16:31507804..31510782,3	MCF-7	breast:
3	chr16:31497480..31508766-chr16:31514543..31521176,19	MCF-7	breast:
4	chr16:31502081..31506584-chr16:31506817..31510870,6	K562	blood:

No data

Variant related genes	Relation type
C16orf58	TF binding region
C16orf58	CpG island
ENSG00000260625	Chromatin interaction
ENSG00000140675	Chromatin interaction
ENSG00000260740	Chromatin interaction
ENSG00000140688	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs41420744	1.00[AMR][1000 genomes]
rs41465245	1.00[AMR][1000 genomes]
rs41468344	1.00[AMR][1000 genomes]
rs45466094	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56809455	1.00[AMR][1000 genomes]
rs58372645	1.00[AMR][1000 genomes]
rs59932244	1.00[AMR][1000 genomes]
rs7184483	1.00[AMR][1000 genomes]
rs7196958	1.00[AMR][1000 genomes]
rs74015511	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3392534	chr16:31303038-31573066	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	104 gene(s)	inside rSNPs	diseases
2	nsv833194	chr16:31358179-31528545	Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	97 gene(s)	inside rSNPs	diseases
3	nsv905747	chr16:31394179-31888684	Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	123 gene(s)	inside rSNPs	diseases
4	nsv905748	chr16:31427678-31559220	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	94 gene(s)	inside rSNPs	diseases
5	nsv905749	chr16:31427678-31565597	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	96 gene(s)	inside rSNPs	diseases
6	nsv905750	chr16:31427678-31587662	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	98 gene(s)	inside rSNPs	diseases
7	nsv905752	chr16:31436932-31565597	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	95 gene(s)	inside rSNPs	diseases
8	nsv905753	chr16:31436932-31587662	Enhancers Active TSS Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	97 gene(s)	inside rSNPs	diseases
9	nsv905754	chr16:31451699-31565597	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	93 gene(s)	inside rSNPs	diseases
10	nsv1060240	chr16:31495873-31581450	Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:31499800-31509200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr16:31499800-31509600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr16:31499800-31512200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr16:31499800-31512200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr16:31499800-31516200	Weak transcription	GM12878-XiMat	blood
6	chr16:31499800-31517200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr16:31499800-31517400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr16:31500000-31506400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr16:31500000-31508200	Weak transcription	Primary B cells from cord blood	blood
10	chr16:31500200-31507400	Weak transcription	HMEC	breast
11	chr16:31500200-31508000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr16:31500200-31508400	Weak transcription	NHEK	skin
13	chr16:31500200-31511400	Weak transcription	NH-A	brain
14	chr16:31500200-31512200	Strong transcription	Fetal Intestine Small	intestine
15	chr16:31500400-31505600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr16:31500400-31507400	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr16:31500400-31512200	Strong transcription	NHLF	lung
18	chr16:31500400-31514200	Weak transcription	Fetal Heart	heart
19	chr16:31500400-31518000	Weak transcription	Small Intestine	intestine
20	chr16:31500600-31512200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr16:31500600-31512200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr16:31500600-31512200	Strong transcription	Fetal Muscle Leg	muscle
23	chr16:31500600-31518200	Weak transcription	Stomach Mucosa	stomach
24	chr16:31500800-31512000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr16:31500800-31512000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr16:31500800-31512000	Strong transcription	Fetal Intestine Large	intestine
27	chr16:31500800-31512200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr16:31500800-31512200	Strong transcription	Fetal Stomach	stomach
29	chr16:31500800-31512600	Strong transcription	Placenta	Placenta
30	chr16:31501000-31505600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr16:31501000-31512000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr16:31501000-31512000	Strong transcription	Brain Anterior Caudate	brain
33	chr16:31501000-31512000	Strong transcription	Stomach Smooth Muscle	stomach
34	chr16:31501000-31512200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr16:31501000-31512200	Strong transcription	Adipose Nuclei	Adipose
36	chr16:31501000-31512200	Strong transcription	Ovary	ovary
37	chr16:31501000-31512200	Strong transcription	Rectal Mucosa Donor 29	rectum
38	chr16:31501000-31512200	Strong transcription	Right Ventricle	heart
39	chr16:31501000-31512400	Strong transcription	Fetal Muscle Trunk	muscle
40	chr16:31501200-31505400	Strong transcription	Gastric	stomach
41	chr16:31501200-31511800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr16:31501200-31512000	Strong transcription	Cortex derived primary cultured neurospheres	brain
43	chr16:31501200-31512000	Strong transcription	Brain Inferior Temporal Lobe	brain
44	chr16:31501200-31512000	Strong transcription	Skeletal Muscle Female	skeletal muscle
45	chr16:31501200-31512200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr16:31501200-31512200	Strong transcription	Primary T cells from cord blood	blood
47	chr16:31501200-31512200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr16:31501200-31512200	Strong transcription	Brain Germinal Matrix	brain
49	chr16:31501200-31512200	Strong transcription	Brain Hippocampus Middle	brain
50	chr16:31501200-31512200	Strong transcription	Duodenum Mucosa	Duodenum

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