Variant report

Variant	rs68192554
Chromosome Location	chr16:81345388-81345389
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr16:81345337-81345458	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr16:81344745-81345729	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr16:81345386-81345418	Gliobla	brain:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:81343775..81345598-chr16:81381932..81384912,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GCSH-1	chr16:81345111-81348378	NONHSAT143942
2	lnc-GCSH-1	chr16:81344336-81347028	ENSG00000260495.1
3	lnc-GAN-2	chr16:81343952-81346073	NONHSAT143940

No data

Variant related genes	Relation type
GAN	TF binding region

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

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs4888136	0.93[ASN][1000 genomes]
rs9888791	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532569	chr16:80980356-81700149	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv532597	chr16:81009718-81388348	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats 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	56 gene(s)	inside rSNPs	diseases
3	nsv1058519	chr16:81177767-81735333	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
4	nsv948448	chr16:81198147-81906766	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	37 gene(s)	inside rSNPs	diseases
5	nsv522890	chr16:81341363-81348396	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81328000-81347000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr16:81328200-81347000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr16:81328600-81347000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr16:81330600-81347200	Weak transcription	Gastric	stomach
5	chr16:81331600-81347000	Weak transcription	Right Ventricle	heart
6	chr16:81331800-81346400	Weak transcription	Brain Anterior Caudate	brain
7	chr16:81332000-81345400	Weak transcription	Thymus	Thymus
8	chr16:81332200-81346400	Weak transcription	Fetal Stomach	stomach
9	chr16:81332400-81346400	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr16:81333200-81346400	Weak transcription	Brain Germinal Matrix	brain
11	chr16:81334400-81346600	Weak transcription	Colon Smooth Muscle	Colon
12	chr16:81334600-81347200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr16:81335600-81346400	Weak transcription	Primary T cells from cord blood	blood
14	chr16:81337600-81347000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr16:81338000-81346400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr16:81338200-81346600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr16:81338400-81347000	Weak transcription	Spleen	Spleen
18	chr16:81338400-81347200	Weak transcription	Primary B cells from cord blood	blood
19	chr16:81338400-81347400	Weak transcription	Aorta	Aorta
20	chr16:81338600-81346600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr16:81338600-81347400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr16:81338800-81346600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr16:81339600-81346600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr16:81340000-81346400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr16:81340600-81346400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr16:81340800-81347000	Weak transcription	Fetal Muscle Leg	muscle
27	chr16:81341600-81346400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr16:81342000-81346400	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr16:81342000-81347000	Weak transcription	Fetal Lung	lung
30	chr16:81342200-81346400	Weak transcription	Primary B cells from peripheral blood	blood
31	chr16:81342200-81346400	Weak transcription	Small Intestine	intestine
32	chr16:81342200-81346600	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr16:81342200-81346800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr16:81342600-81346600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr16:81343200-81347000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr16:81343200-81347000	Weak transcription	NHDF-Ad	bronchial
37	chr16:81343200-81347200	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr16:81343200-81347400	Enhancers	Primary T helper cells PMA-I stimulated	--
39	chr16:81343400-81346400	Weak transcription	Duodenum Mucosa	Duodenum
40	chr16:81343600-81346400	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr16:81343600-81347200	Weak transcription	Pancreas	Pancrea
42	chr16:81344000-81345400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr16:81344000-81345400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
44	chr16:81344000-81347200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr16:81344000-81347200	Weak transcription	Placenta	Placenta
46	chr16:81344200-81345800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr16:81344200-81346600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr16:81344200-81347000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr16:81344200-81347000	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr16:81344200-81347000	Weak transcription	K562	blood

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