Variant report

Variant	rs551871344
Chromosome Location	chr19:55794479-55794480
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:122)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:55794444-55794494	MCF10A-Er-Src	breast:	n/a
2	chr19:55794478-55794528	NT2-D1	testis:	n/a
3	chr19:55794478-55794528	GM12891	blood:	n/a
4	chr19:55794478-55794528	PrEC	prostate:	n/a
5	chr19:55794478-55794528	SK-N-SH	brain:	n/a
6	chr19:55794478-55794528	RPTEC	kidney:	n/a
7	chr19:55794478-55794528	HRPEpiC	eye:	n/a
8	chr19:55794478-55794528	HNPCEpiC	eye:	n/a
9	chr19:55794444-55794494	SK-N-MC	brain:	n/a
10	chr19:55794478-55794528	Jurkat	blood:	n/a
11	chr19:55794478-55794528	HEK293	kidney:	embryo
12	chr19:55794478-55794528	HepG2	liver:	n/a
13	chr19:55794478-55794528	PFSK-1	brain:	n/a
14	chr19:55794444-55794494	GM12878	blood:	n/a
15	chr19:55794478-55794528	HPAEpiC	pulmonary alveolar:	n/a
16	chr19:55794444-55794494	H1-hESC	embryonic stem cell:	embryo
17	chr19:55794478-55794528	CMK	blood:	n/a
18	chr19:55794478-55794528	HAEpiC	amniotic membrane:	n/a
19	chr19:55794444-55794494	SK-N-SH_RA	brain:	n/a
20	chr19:55794444-55794494	SAEC	small airway:	n/a
21	chr19:55794444-55794494	PFSK-1	brain:	n/a
22	chr19:55794444-55794494	HCM	heart:	n/a
23	chr19:55794444-55794494	IMR90	lung:	fetal
24	chr19:55794444-55794494	PrEC	prostate:	n/a
25	chr19:55794444-55794494	NHDF-neo	bronchial:	n/a
26	chr19:55794478-55794528	K562	blood:	n/a
27	chr19:55794478-55794528	GM19239	blood:	n/a
28	chr19:55794444-55794494	GM12891	blood:	n/a
29	chr19:55794478-55794528	HIPEpiC	eye:	n/a
30	chr19:55794444-55794494	Hepatocyte	liver:	n/a
31	chr19:55794444-55794494	HIPEpiC	eye:	n/a
32	chr19:55794478-55794528	SKMC	muscle:	n/a
33	chr19:55794444-55794494	T-47D	breast:	n/a
34	chr19:55794444-55794494	ovcar-3	ovarian:	n/a
35	chr19:55794444-55794494	LNCaP	prostate:	n/a
36	chr19:55794444-55794494	GM12892	blood:	n/a
37	chr19:55794444-55794494	BE2_C	brain:	n/a
38	chr19:55794478-55794528	HEEpiC	esophagus:	n/a
39	chr19:55794478-55794528	AG04450	lung:	fetal
40	chr19:55794478-55794528	A549	lung:	n/a
41	chr19:55794444-55794494	RPTEC	kidney:	n/a
42	chr19:55794478-55794528	AoSMC	blood vessel:	n/a
43	chr19:55794444-55794494	BJ	skin:	n/a
44	chr19:55794478-55794528	HRCEpiC	kidney:	n/a
45	chr19:55794478-55794528	HCT-116	colon:	n/a
46	chr19:55794478-55794528	HCF	heart:	n/a
47	chr19:55794444-55794494	NB4	blood:	n/a
48	chr19:55794444-55794494	A549	lung:	n/a
49	chr19:55794478-55794528	Caco-2	colon:	n/a
50	chr19:55794444-55794494	HCF	heart:	n/a

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:55768870..55771541-chr19:55794018..55795820,2	MCF-7	breast:
2	chr19:55764275..55774774-chr19:55790059..55800763,24	K562	blood:
3	chr19:55789007..55794976-chr19:55917716..55921043,9	K562	blood:
4	chr19:55793274..55795541-chr19:55812526..55814100,2	MCF-7	breast:
5	chr19:55790346..55793216-chr19:55794114..55797002,3	MCF-7	breast:
6	chr19:55790016..55797764-chr19:55893451..55899813,15	MCF-7	breast:
7	chr19:55787879..55795650-chr19:55893762..55898931,9	MCF-7	breast:

No data

Variant related genes	Relation type
HSPBP1	CpG island
BRSK1	CpG island
ENSG00000108107	Chromatin interaction
ENSG00000108106	Chromatin interaction
ENSG00000105063	Chromatin interaction
ENSG00000133265	Chromatin interaction
ENSG00000233493	Chromatin interaction
ENSG00000160469	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1816335	chr19:55683977-55901099	Strong transcription Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Bivalent Enhancer 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	119 gene(s)	inside rSNPs	diseases
2	nsv1065760	chr19:55721521-55929740	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	212 gene(s)	inside rSNPs	diseases
3	nsv912455	chr19:55725410-55879872	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
4	nsv912456	chr19:55725410-55925500	Weak transcription Active TSS Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	212 gene(s)	inside rSNPs	diseases
5	nsv912457	chr19:55725410-56019597	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer 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	228 gene(s)	inside rSNPs	diseases
6	nsv912458	chr19:55763409-55823822	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
7	nsv912459	chr19:55791380-55845386	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
8	esv3442638	chr19:55794165-55797013	Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:55791600-55796000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr19:55791800-55795000	Weak transcription	HSMMtube	muscle
3	chr19:55791800-55796600	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr19:55792000-55795000	Weak transcription	HSMM	muscle
5	chr19:55792200-55794600	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr19:55792200-55794800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr19:55792200-55795000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr19:55792200-55795000	Weak transcription	Aorta	Aorta
9	chr19:55792200-55795000	Weak transcription	Right Atrium	heart
10	chr19:55792200-55795000	Weak transcription	NH-A	brain
11	chr19:55792400-55794600	Weak transcription	Primary T cells from cord blood	blood
12	chr19:55792400-55794600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr19:55792400-55794600	Weak transcription	Brain Hippocampus Middle	brain
14	chr19:55792400-55794600	Weak transcription	Brain Substantia Nigra	brain
15	chr19:55792400-55794600	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr19:55792400-55794800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr19:55792400-55794800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr19:55792400-55795000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr19:55792400-55795000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr19:55792400-55795000	Weak transcription	Fetal Muscle Trunk	muscle
21	chr19:55792400-55795000	Weak transcription	Dnd41	blood
22	chr19:55792400-55795600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr19:55792400-55796800	Weak transcription	Gastric	stomach
24	chr19:55792400-55797000	Weak transcription	Pancreas	Pancrea
25	chr19:55792600-55794600	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr19:55792600-55794800	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr19:55792600-55794800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr19:55792600-55794800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr19:55792600-55794800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr19:55792600-55794800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr19:55792600-55794800	Weak transcription	Colon Smooth Muscle	Colon
32	chr19:55792600-55794800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr19:55792600-55794800	Weak transcription	Fetal Heart	heart
34	chr19:55792600-55794800	Weak transcription	Stomach Smooth Muscle	stomach
35	chr19:55792600-55795000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr19:55792600-55795000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr19:55792600-55795000	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr19:55792600-55795000	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr19:55792600-55795000	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr19:55792600-55795000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr19:55792600-55795000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr19:55792600-55795000	Weak transcription	Fetal Kidney	kidney
43	chr19:55792600-55795000	Weak transcription	Rectal Smooth Muscle	rectum
44	chr19:55792600-55795000	Weak transcription	NHDF-Ad	bronchial
45	chr19:55792600-55795000	Weak transcription	Osteobl	bone
46	chr19:55792800-55794600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr19:55792800-55794600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr19:55792800-55794600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr19:55792800-55794600	Weak transcription	Primary T helper cells PMA-I stimulated	--
50	chr19:55792800-55794800	Weak transcription	H1 Cell Line	embryonic stem cell

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