Variant report

Variant	rs34698978
Chromosome Location	chr16:58713998-58713999
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr16:58713843-58714046	K562	blood:	n/a	n/a

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:

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

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs13329892	1.00[EUR][1000 genomes]
rs13334745	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13334922	1.00[EUR][1000 genomes]
rs13335464	1.00[EUR][1000 genomes]
rs13335851	1.00[EUR][1000 genomes]
rs13335953	1.00[EUR][1000 genomes]
rs13337650	1.00[EUR][1000 genomes]
rs13339352	1.00[EUR][1000 genomes]
rs28394663	1.00[EUR][1000 genomes]
rs28468502	1.00[EUR][1000 genomes]
rs28472773	1.00[EUR][1000 genomes]
rs28530777	1.00[EUR][1000 genomes]
rs28533067	1.00[EUR][1000 genomes]
rs28613241	1.00[EUR][1000 genomes]
rs28644182	1.00[EUR][1000 genomes]
rs28744389	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7186446	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7193580	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73550817	1.00[EUR][1000 genomes]
rs73550821	1.00[EUR][1000 genomes]
rs73558468	1.00[EUR][1000 genomes]
rs8048686	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9746055	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9923409	1.00[EUR][1000 genomes]
rs9924494	1.00[EUR][1000 genomes]
rs9926053	1.00[EUR][1000 genomes]
rs9930277	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9938192	1.00[EUR][1000 genomes]
rs9938386	1.00[EUR][1000 genomes]
rs9939324	1.00[EUR][1000 genomes]
rs9941013	1.00[EUR][1000 genomes]
rs9941175	1.00[EUR][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	chr16:58695200-58714200	Weak transcription	NH-A	brain
3	chr16:58695200-58717400	Weak transcription	Fetal Kidney	kidney
4	chr16:58695600-58717400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr16:58697800-58717600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr16:58699000-58717400	Weak transcription	Primary B cells from cord blood	blood
7	chr16:58699400-58717200	Weak transcription	Fetal Heart	heart
8	chr16:58699400-58717400	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr16:58699600-58716000	Strong transcription	Fetal Intestine Small	intestine
10	chr16:58699600-58717800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr16:58699800-58715000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr16:58700400-58716400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr16:58700800-58717200	Weak transcription	Primary B cells from peripheral blood	blood
14	chr16:58701200-58717800	Weak transcription	Fetal Lung	lung
15	chr16:58701400-58717000	Weak transcription	HUVEC	blood vessel
16	chr16:58701400-58717400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr16:58701600-58717200	Weak transcription	HMEC	breast
18	chr16:58701600-58717400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr16:58701800-58717200	Weak transcription	K562	blood
20	chr16:58703000-58715400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr16:58703200-58715600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr16:58703200-58717400	Weak transcription	Small Intestine	intestine
23	chr16:58703400-58714200	Strong transcription	Fetal Muscle Leg	muscle
24	chr16:58703400-58715200	Strong transcription	Placenta	Placenta
25	chr16:58703400-58716000	Strong transcription	Skeletal Muscle Male	skeletal muscle
26	chr16:58703600-58716000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr16:58703600-58717000	Strong transcription	Fetal Stomach	stomach
28	chr16:58704000-58714200	Strong transcription	Gastric	stomach
29	chr16:58704000-58714400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr16:58704000-58715400	Strong transcription	HUES6 Cell Line	embryonic stem cell
31	chr16:58704200-58717600	Weak transcription	Stomach Mucosa	stomach
32	chr16:58704400-58716000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr16:58704600-58715800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr16:58705400-58714800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr16:58707800-58714400	Strong transcription	Rectal Mucosa Donor 29	rectum
36	chr16:58707800-58715200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
37	chr16:58707800-58716200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr16:58708000-58714200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
39	chr16:58708000-58714800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
40	chr16:58708000-58714800	Strong transcription	Brain Germinal Matrix	brain
41	chr16:58708000-58715200	Strong transcription	Fetal Intestine Large	intestine
42	chr16:58708000-58715600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr16:58708000-58715800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr16:58708200-58714400	Strong transcription	Brain Anterior Caudate	brain
45	chr16:58708200-58715000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr16:58708200-58715400	Strong transcription	Cortex derived primary cultured neurospheres	brain
47	chr16:58708200-58715600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr16:58708200-58715800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr16:58708200-58715800	Strong transcription	Lung	lung
50	chr16:58708200-58716200	Strong transcription	Fetal Muscle Trunk	muscle

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