Variant report

Variant	rs2314663
Chromosome Location	chr19:18696055-18696056
allele	C/T
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:1)
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	chr19:18696054-18696104	AG09309	skin:	n/a
2	chr19:18696054-18696104	NHBE	bronchial:	n/a
3	chr19:18696054-18696104	HepG2	liver:	n/a
4	chr19:18696054-18696104	RPTEC	kidney:	n/a
5	chr19:18696054-18696104	H1-hESC	embryonic stem cell:	embryo
6	chr19:18696054-18696104	AG10803	skin:	n/a
7	chr19:18696054-18696104	Hepatocyte	liver:	n/a
8	chr19:18696054-18696104	HNPCEpiC	eye:	n/a
9	chr19:18696054-18696104	SK-N-SH_RA	brain:	n/a
10	chr19:18696054-18696104	Hela-S3	cervix:	n/a
11	chr19:18696054-18696104	Caco-2	colon:	n/a
12	chr19:18696054-18696104	NHDF-neo	bronchial:	n/a
13	chr19:18696054-18696104	ProgFib	skin:	n/a
14	chr19:18696054-18696104	SKMC	muscle:	n/a
15	chr19:18696054-18696104	PrEC	prostate:	n/a
16	chr19:18696054-18696104	MCF-7	breast:	n/a
17	chr19:18696054-18696104	T-47D	breast:	n/a
18	chr19:18696054-18696104	NB4	blood:	n/a
19	chr19:18696054-18696104	IMR90	lung:	fetal
20	chr19:18696054-18696104	A549	lung:	n/a
21	chr19:18696054-18696104	HL-60	blood:	n/a
22	chr19:18696054-18696104	HRPEpiC	eye:	n/a
23	chr19:18696054-18696104	MCF10A-Er-Src	breast:	n/a
24	chr19:18696054-18696104	HIPEpiC	eye:	n/a
25	chr19:18696054-18696104	HRCEpiC	kidney:	n/a
26	chr19:18696054-18696104	HAEpiC	amniotic membrane:	n/a
27	chr19:18696054-18696104	HCPEpiC	choroid plexus:	n/a
28	chr19:18696054-18696104	HEEpiC	esophagus:	n/a
29	chr19:18696054-18696104	ovcar-3	ovarian:	n/a
30	chr19:18696054-18696104	NH-A	brain:	n/a
31	chr19:18696054-18696104	NT2-D1	testis:	n/a
32	chr19:18696054-18696104	PANC-1	pancreas:	n/a
33	chr19:18696054-18696104	CMK	blood:	n/a
34	chr19:18696054-18696104	GM12892	blood:	n/a
35	chr19:18696054-18696104	U87	brain:	n/a
36	chr19:18696054-18696104	BE2_C	brain:	n/a
37	chr19:18696054-18696104	Jurkat	blood:	n/a
38	chr19:18696054-18696104	GM12878	blood:	n/a
39	chr19:18696054-18696104	HEK293	kidney:	embryo
40	chr19:18696054-18696104	SK-N-MC	brain:	n/a
41	chr19:18696054-18696104	AG04450	lung:	fetal
42	chr19:18696054-18696104	LNCaP	prostate:	n/a
43	chr19:18696054-18696104	K562	blood:	n/a
44	chr19:18696054-18696104	AG04449	skin:	fetal
45	chr19:18696054-18696104	SK-N-SH	brain:	n/a
46	chr19:18696054-18696104	AoSMC	blood vessel:	n/a
47	chr19:18696054-18696104	GM12891	blood:	n/a
48	chr19:18696054-18696104	HRE	kidney:	n/a
49	chr19:18696054-18696104	HPAEpiC	pulmonary alveolar:	n/a
50	chr19:18696054-18696104	HCM	heart:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:18668730..18670644-chr19:18695864..18697942,2	MCF-7	breast:

No data

Variant related genes	Relation type
C19orf60	CpG island
ENSG00000105700	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11666943	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28861428	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34056711	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34379688	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7258589	0.83[CEU][hapmap];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1057795	chr19:18453362-18883844	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
2	nsv543925	chr19:18453362-18883844	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
3	nsv532615	chr19:18534867-18796031	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
4	nsv911281	chr19:18613917-18758255	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
5	nsv911282	chr19:18624964-18928480	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
6	nsv833776	chr19:18638028-18782264	Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
7	nsv911286	chr19:18652844-18811112	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18684400-18698600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr19:18684600-18698800	Weak transcription	Right Atrium	heart
3	chr19:18686200-18698600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr19:18686800-18698400	Weak transcription	Colonic Mucosa	Colon
5	chr19:18686800-18699600	Weak transcription	Small Intestine	intestine
6	chr19:18687000-18698600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr19:18687200-18698600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr19:18687200-18698800	Weak transcription	Rectal Smooth Muscle	rectum
9	chr19:18687200-18698800	Weak transcription	HSMMtube	muscle
10	chr19:18687200-18699000	Weak transcription	Aorta	Aorta
11	chr19:18687200-18699400	Weak transcription	Ovary	ovary
12	chr19:18687400-18696200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr19:18687400-18696200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr19:18687400-18696400	Weak transcription	Primary B cells from cord blood	blood
15	chr19:18687400-18698600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr19:18687400-18698600	Weak transcription	Fetal Lung	lung
17	chr19:18687400-18698600	Weak transcription	Hela-S3	cervix
18	chr19:18687400-18698800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr19:18687400-18698800	Weak transcription	Psoas Muscle	Psoas
20	chr19:18687400-18699000	Weak transcription	Brain Substantia Nigra	brain
21	chr19:18687600-18698600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr19:18687600-18698600	Weak transcription	HSMM	muscle
23	chr19:18687600-18698800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr19:18687800-18696200	Weak transcription	Primary hematopoietic stem cells	blood
25	chr19:18687800-18698600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr19:18687800-18698800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr19:18687800-18698800	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr19:18687800-18699000	Weak transcription	Pancreas	Pancrea
29	chr19:18688000-18698600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr19:18688000-18698800	Weak transcription	Fetal Kidney	kidney
31	chr19:18688200-18696200	Weak transcription	Dnd41	blood
32	chr19:18688200-18698600	Weak transcription	Brain Cingulate Gyrus	brain
33	chr19:18688200-18698800	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr19:18688400-18698600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr19:18688400-18698600	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr19:18688400-18699000	Weak transcription	Colon Smooth Muscle	Colon
37	chr19:18688600-18697800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr19:18688600-18698400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr19:18688600-18698600	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr19:18688600-18698800	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr19:18688600-18699000	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr19:18688600-18699000	Weak transcription	A549	lung
43	chr19:18688800-18696200	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr19:18688800-18696200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr19:18688800-18696200	Weak transcription	Primary T helper cells fromperipheralblood	blood
46	chr19:18688800-18697400	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr19:18688800-18698600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr19:18688800-18698600	Weak transcription	Brain Angular Gyrus	brain
49	chr19:18688800-18698600	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr19:18688800-18698600	Weak transcription	Skeletal Muscle Female	skeletal muscle

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