Variant report

Variant	rs12165117
Chromosome Location	chr19:20845591-20845592
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:20845590-20845640	SKMC	muscle:	n/a
2	chr19:20845590-20845640	HEEpiC	esophagus:	n/a
3	chr19:20845590-20845640	H1-hESC	embryonic stem cell:	embryo
4	chr19:20845590-20845640	HCF	heart:	n/a
5	chr19:20845590-20845640	U87	brain:	n/a
6	chr19:20845590-20845640	HUVEC	blood vessel:	n/a
7	chr19:20845590-20845640	BE2_C	brain:	n/a
8	chr19:20845590-20845640	NH-A	brain:	n/a
9	chr19:20845590-20845640	GM06990	blood:	n/a
10	chr19:20845590-20845640	NHDF-neo	bronchial:	n/a
11	chr19:20845590-20845640	HRE	kidney:	n/a
12	chr19:20845590-20845640	HEK293	kidney:	embryo
13	chr19:20845590-20845640	K562	blood:	n/a
14	chr19:20845590-20845640	GM19239	blood:	n/a
15	chr19:20845590-20845640	GM12892	blood:	n/a
16	chr19:20845590-20845640	GM12878	blood:	n/a
17	chr19:20845590-20845640	T-47D	breast:	n/a
18	chr19:20845590-20845640	GM12891	blood:	n/a
19	chr19:20845590-20845640	CMK	blood:	n/a
20	chr19:20845590-20845640	NB4	blood:	n/a
21	chr19:20845590-20845640	HPAEpiC	pulmonary alveolar:	n/a
22	chr19:20845590-20845640	HL-60	blood:	n/a
23	chr19:20845590-20845640	HRCEpiC	kidney:	n/a
24	chr19:20845590-20845640	SK-N-SH	brain:	n/a
25	chr19:20845590-20845640	PrEC	prostate:	n/a
26	chr19:20845590-20845640	ProgFib	skin:	n/a
27	chr19:20845590-20845640	SK-N-MC	brain:	n/a
28	chr19:20845590-20845640	AG04449	skin:	fetal
29	chr19:20845590-20845640	Jurkat	blood:	n/a
30	chr19:20845590-20845640	AG10803	skin:	n/a
31	chr19:20845590-20845640	HRPEpiC	eye:	n/a
32	chr19:20845590-20845640	HAEpiC	amniotic membrane:	n/a
33	chr19:20845590-20845640	HNPCEpiC	eye:	n/a
34	chr19:20845590-20845640	NT2-D1	testis:	n/a
35	chr19:20845590-20845640	HMEC	breast:	n/a
36	chr19:20845590-20845640	A549	lung:	n/a
37	chr19:20845590-20845640	RPTEC	kidney:	n/a
38	chr19:20845590-20845640	AoSMC	blood vessel:	n/a
39	chr19:20845590-20845640	HCPEpiC	choroid plexus:	n/a
40	chr19:20845590-20845640	SAEC	small airway:	n/a
41	chr19:20845590-20845640	HCM	heart:	n/a
42	chr19:20845590-20845640	ECC-1	luminal epithelium:	n/a
43	chr19:20845590-20845640	AG04450	lung:	fetal
44	chr19:20845590-20845640	Caco-2	colon:	n/a
45	chr19:20845590-20845640	Hepatocyte	liver:	n/a
46	chr19:20845590-20845640	PFSK-1	brain:	n/a
47	chr19:20845590-20845640	HCT-116	colon:	n/a
48	chr19:20845590-20845640	ovcar-3	ovarian:	n/a
49	chr19:20845590-20845640	HIPEpiC	eye:	n/a
50	chr19:20845590-20845640	PANC-1	pancreas:	n/a

No data

Variant related genes	Relation type
ENSG00000269110	CpG island
ZNF626	CpG island

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11673057	1.00[EUR][1000 genomes]
rs12165116	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs671517	0.81[EUR][1000 genomes]
rs8108450	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv911325	chr19:20151257-21071548	ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	49 gene(s)	inside rSNPs	diseases
2	esv2758489	chr19:20574295-20845947	Strong transcription Active TSS ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
3	esv2758749	chr19:20574295-20845947	ZNF genes & repeats Genic enhancers Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
4	nsv530804	chr19:20574295-21001349	Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
5	nsv978786	chr19:20818886-20884983	Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv911407	chr19:20818886-20885811	ZNF genes & repeats Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv911408	chr19:20818886-20885811	Enhancers Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv1065039	chr19:20818886-20977326	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	esv2751781	chr19:20818886-20985425	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
10	nsv578921	chr19:20818886-20985425	ZNF genes & repeats Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
11	nsv458510	chr19:20818886-20987550	Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
12	nsv578910	chr19:20818886-20987550	Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Strong transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
13	nsv578917	chr19:20818886-20989873	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
14	nsv578918	chr19:20818886-21008212	ZNF genes & repeats Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
15	esv3447275	chr19:20818886-21030779	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
16	esv2752729	chr19:20818886-21169554	ZNF genes & repeats Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
17	nsv1062776	chr19:20818886-21273361	Weak transcription Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
18	nsv932110	chr19:20818886-21278952	Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
19	esv2763043	chr19:20818886-21290543	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:20843600-20845800	Active TSS	Skeletal Muscle Female	skeletal muscle
2	chr19:20844200-20847800	Weak transcription	Fetal Heart	heart
3	chr19:20844400-20847200	Weak transcription	Small Intestine	intestine
4	chr19:20844400-20847800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr19:20844400-20847800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr19:20844400-20847800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr19:20844400-20847800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr19:20844400-20847800	Weak transcription	Fetal Brain Male	brain
9	chr19:20844400-20847800	Weak transcription	Gastric	stomach
10	chr19:20844600-20845800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
11	chr19:20844600-20847000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr19:20844600-20847600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr19:20844600-20847600	Weak transcription	Placenta	Placenta
14	chr19:20844600-20847600	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr19:20844600-20847600	Weak transcription	Stomach Smooth Muscle	stomach
16	chr19:20844600-20847800	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr19:20844600-20847800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr19:20844600-20847800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr19:20844600-20847800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr19:20844600-20847800	Weak transcription	Brain Germinal Matrix	brain
21	chr19:20844600-20847800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr19:20844600-20847800	Weak transcription	Colonic Mucosa	Colon
23	chr19:20844600-20847800	Weak transcription	Fetal Lung	lung
24	chr19:20844600-20847800	Weak transcription	Ovary	ovary
25	chr19:20844600-20847800	Weak transcription	Rectal Smooth Muscle	rectum
26	chr19:20844600-20847800	Weak transcription	K562	blood
27	chr19:20844600-20848200	Weak transcription	Left Ventricle	heart
28	chr19:20844800-20845600	Enhancers	Brain Cingulate Gyrus	brain
29	chr19:20844800-20846000	Enhancers	Brain Angular Gyrus	brain
30	chr19:20844800-20847400	Weak transcription	Adipose Nuclei	Adipose
31	chr19:20844800-20847600	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr19:20844800-20847800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr19:20844800-20847800	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr19:20844800-20847800	Weak transcription	Fetal Stomach	stomach
35	chr19:20844800-20848000	Weak transcription	Right Atrium	heart
36	chr19:20845000-20845600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr19:20845000-20845600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr19:20845000-20848800	ZNF genes & repeats	Fetal Intestine Small	intestine
39	chr19:20845200-20845600	Flanking Active TSS	Brain Hippocampus Middle	brain
40	chr19:20845200-20845600	Enhancers	Brain Inferior Temporal Lobe	brain
41	chr19:20845200-20845800	Enhancers	Brain Anterior Caudate	brain
42	chr19:20845200-20846000	Flanking Active TSS	HepG2	liver
43	chr19:20845200-20847000	Weak transcription	Primary B cells from peripheral blood	blood
44	chr19:20845200-20847000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr19:20845200-20847200	Weak transcription	Primary T cells fromperipheralblood	blood
46	chr19:20845200-20847600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr19:20845400-20845600	Flanking Active TSS	Brain Substantia Nigra	brain
48	chr19:20845400-20845600	Enhancers	Pancreas	Pancrea

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