Variant report

Variant	rs191718858
Chromosome Location	chr19:40794901-40794902
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:3)
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	chr19:40794895-40794945	GM12891	blood:	n/a
2	chr19:40794895-40794945	HEK293	kidney:	embryo
3	chr19:40794895-40794945	NT2-D1	testis:	n/a
4	chr19:40794895-40794945	A549	lung:	n/a
5	chr19:40794895-40794945	Hela-S3	cervix:	n/a
6	chr19:40794895-40794945	AG04450	lung:	fetal
7	chr19:40794895-40794945	SAEC	small airway:	n/a
8	chr19:40794895-40794945	HEEpiC	esophagus:	n/a
9	chr19:40794895-40794945	PANC-1	pancreas:	n/a
10	chr19:40794895-40794945	AG09319	gingival:	n/a
11	chr19:40794895-40794945	HRCEpiC	kidney:	n/a
12	chr19:40794895-40794945	GM12878	blood:	n/a
13	chr19:40794895-40794945	HRE	kidney:	n/a
14	chr19:40794895-40794945	BE2_C	brain:	n/a
15	chr19:40794895-40794945	HepG2	liver:	n/a
16	chr19:40794895-40794945	Jurkat	blood:	n/a
17	chr19:40794895-40794945	HCM	heart:	n/a
18	chr19:40794895-40794945	ECC-1	luminal epithelium:	n/a
19	chr19:40794895-40794945	SK-N-MC	brain:	n/a
20	chr19:40794895-40794945	LNCaP	prostate:	n/a
21	chr19:40794895-40794945	AG04449	skin:	fetal
22	chr19:40794895-40794945	RPTEC	kidney:	n/a
23	chr19:40794895-40794945	PFSK-1	brain:	n/a
24	chr19:40794895-40794945	MCF10A-Er-Src	breast:	n/a
25	chr19:40794895-40794945	K562	blood:	n/a
26	chr19:40794895-40794945	GM06990	blood:	n/a
27	chr19:40794895-40794945	HL-60	blood:	n/a
28	chr19:40794895-40794945	NHBE	bronchial:	n/a
29	chr19:40794895-40794945	Caco-2	colon:	n/a
30	chr19:40794895-40794945	HAEpiC	amniotic membrane:	n/a
31	chr19:40794895-40794945	HCPEpiC	choroid plexus:	n/a
32	chr19:40794895-40794945	IMR90	lung:	fetal
33	chr19:40794895-40794945	PrEC	prostate:	n/a
34	chr19:40794895-40794945	HCF	heart:	n/a
35	chr19:40794895-40794945	HIPEpiC	eye:	n/a
36	chr19:40794895-40794945	GM12892	blood:	n/a
37	chr19:40794895-40794945	SK-N-SH	brain:	n/a
38	chr19:40794895-40794945	HUVEC	blood vessel:	n/a
39	chr19:40794895-40794945	Hepatocyte	liver:	n/a
40	chr19:40794895-40794945	H1-hESC	embryonic stem cell:	embryo
41	chr19:40794895-40794945	ProgFib	skin:	n/a
42	chr19:40794895-40794945	HPAEpiC	pulmonary alveolar:	n/a
43	chr19:40794895-40794945	SK-N-SH_RA	brain:	n/a
44	chr19:40794895-40794945	GM19239	blood:	n/a
45	chr19:40794895-40794945	T-47D	breast:	n/a
46	chr19:40794895-40794945	U87	brain:	n/a
47	chr19:40794895-40794945	HCT-116	colon:	n/a
48	chr19:40794895-40794945	HMEC	breast:	n/a
49	chr19:40794895-40794945	BJ	skin:	n/a
50	chr19:40794895-40794945	CMK	blood:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr19:40790012..40793382-chr19:40793975..40796173,3	K562	blood:
2	chr19:40791790..40793403-chr19:40794499..40796006,2	K562	blood:
3	chr19:40794373..40797365-chr19:40820678..40822952,2	K562	blood:

No data

Variant related genes	Relation type
AKT2	CpG island
ENSG00000105221	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1826663	chr19:40529943-41023601	Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
2	esv2758499	chr19:40612420-40839520	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	esv2758761	chr19:40612420-40839520	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer 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 miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv911699	chr19:40691632-40816530	Flanking Active TSS Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
5	esv1833489	chr19:40722123-40923908	Enhancers Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
6	esv3386713	chr19:40794161-40828617	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40792000-40802600	Weak transcription	Fetal Brain Female	brain
2	chr19:40792000-40807600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr19:40792000-40811400	Weak transcription	Brain Anterior Caudate	brain
4	chr19:40792000-40826200	Weak transcription	Hela-S3	cervix
5	chr19:40792200-40795800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr19:40792200-40807600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr19:40792200-40810200	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr19:40792200-40821400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr19:40792200-40821400	Weak transcription	Fetal Intestine Small	intestine
10	chr19:40792400-40802200	Weak transcription	Fetal Muscle Trunk	muscle
11	chr19:40793000-40797800	Weak transcription	HepG2	liver
12	chr19:40793000-40798400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr19:40793000-40805400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr19:40793000-40810200	Weak transcription	Adipose Nuclei	Adipose
15	chr19:40793000-40821400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr19:40793000-40822000	Weak transcription	Stomach Smooth Muscle	stomach
17	chr19:40793200-40820600	Weak transcription	HSMM	muscle
18	chr19:40793200-40820800	Weak transcription	Dnd41	blood
19	chr19:40793200-40822000	Weak transcription	Fetal Stomach	stomach
20	chr19:40793800-40821800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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