Variant report

Variant	rs13333634
Chromosome Location	chr16:58714940-58714941
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr16:58714920-58715070	GM12873	blood:	n/a	n/a
2	CTCF	chr16:58714840-58714990	NHEK	skin:	n/a	n/a
3	CTCF	chr16:58714900-58715050	GM12867	blood:	n/a	n/a
4	CTCF	chr16:58714860-58715010	GM12872	blood:	n/a	n/a
5	CTCF	chr16:58714920-58715070	HEK293	kidney:	n/a	n/a
6	CTCF	chr16:58714840-58714990	Hela-S3	cervix:	n/a	n/a
7	CTCF	chr16:58714840-58714990	GM12871	blood:	n/a	n/a
8	CTCF	chr16:58714840-58714990	HBMEC	blood vessel:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:58712813..58715277-chr16:58715727..58718518,2	MCF-7	breast:
2	chr16:58713400..58716355-chr16:58716696..58718629,2	K562	blood:
3	chr16:58707416..58709628-chr16:58713431..58716357,2	K562	blood:

No data

Variant related genes	Relation type
SLC38A7	TF binding region
ENSG00000103042	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs28536035	1.00[AFR][1000 genomes]
rs28716716	0.91[AFR][1000 genomes]
rs9921324	0.83[AFR][1000 genomes]
rs9923399	1.00[YRI][hapmap]
rs9929476	1.00[YRI][hapmap]
rs9933344	1.00[AFR][1000 genomes]
rs9934310	1.00[AFR][1000 genomes]
rs9936687	1.00[AFR][1000 genomes]
rs9940685	1.00[AFR][1000 genomes]
rs9940760	0.83[AFR][1000 genomes]
rs9941277	1.00[AFR][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	esv2758427	chr16:58579005-58876037	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	esv2758650	chr16:58579005-58876037	ZNF genes & repeats Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv510686	chr16:58646119-58765894	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv528513	chr16:58672763-58717874	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:58664800-58717200	Weak transcription	Right Atrium	heart
2	chr16:58695200-58717400	Weak transcription	Fetal Kidney	kidney
3	chr16:58695600-58717400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr16:58697800-58717600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr16:58699000-58717400	Weak transcription	Primary B cells from cord blood	blood
6	chr16:58699400-58717200	Weak transcription	Fetal Heart	heart
7	chr16:58699400-58717400	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr16:58699600-58716000	Strong transcription	Fetal Intestine Small	intestine
9	chr16:58699600-58717800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr16:58699800-58715000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr16:58700400-58716400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr16:58700800-58717200	Weak transcription	Primary B cells from peripheral blood	blood
13	chr16:58701200-58717800	Weak transcription	Fetal Lung	lung
14	chr16:58701400-58717000	Weak transcription	HUVEC	blood vessel
15	chr16:58701400-58717400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr16:58701600-58717200	Weak transcription	HMEC	breast
17	chr16:58701600-58717400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr16:58701800-58717200	Weak transcription	K562	blood
19	chr16:58703000-58715400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr16:58703200-58715600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr16:58703200-58717400	Weak transcription	Small Intestine	intestine
22	chr16:58703400-58715200	Strong transcription	Placenta	Placenta
23	chr16:58703400-58716000	Strong transcription	Skeletal Muscle Male	skeletal muscle
24	chr16:58703600-58716000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr16:58703600-58717000	Strong transcription	Fetal Stomach	stomach
26	chr16:58704000-58715400	Strong transcription	HUES6 Cell Line	embryonic stem cell
27	chr16:58704200-58717600	Weak transcription	Stomach Mucosa	stomach
28	chr16:58704400-58716000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr16:58704600-58715800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr16:58707800-58715200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
31	chr16:58707800-58716200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr16:58708000-58715200	Strong transcription	Fetal Intestine Large	intestine
33	chr16:58708000-58715600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr16:58708000-58715800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr16:58708200-58715000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr16:58708200-58715400	Strong transcription	Cortex derived primary cultured neurospheres	brain
37	chr16:58708200-58715600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr16:58708200-58715800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr16:58708200-58715800	Strong transcription	Lung	lung
40	chr16:58708200-58716200	Strong transcription	Fetal Muscle Trunk	muscle
41	chr16:58708400-58715000	Strong transcription	Osteobl	bone
42	chr16:58708800-58715000	Strong transcription	Skeletal Muscle Female	skeletal muscle
43	chr16:58709200-58715000	Strong transcription	Right Ventricle	heart
44	chr16:58709200-58717200	Weak transcription	GM12878-XiMat	blood
45	chr16:58709600-58715600	Strong transcription	NHLF	lung
46	chr16:58709800-58717400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr16:58710200-58717400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr16:58710400-58717400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr16:58710400-58717400	Weak transcription	Psoas Muscle	Psoas
50	chr16:58711000-58715000	Strong transcription	NHEK	skin

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