Variant report

Variant	rs73562126
Chromosome Location	chr19:51898368-51898369
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:60)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:60 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MTA3	chr19:51897045-51899150	GM12878	blood:	n/a	n/a
2	MTA3	chr19:51898057-51898477	GM12878	blood:	n/a	n/a
3	POLR2A	chr19:51898114-51898628	GM12878	blood:	n/a	n/a
4	MXI1	chr19:51896896-51898500	SK-N-SH	brain:	n/a	n/a
5	PAX5	chr19:51898245-51898594	GM12878	blood:	n/a	n/a
6	POLR2A	chr19:51897618-51899052	GM12892	blood:	n/a	n/a
7	POLR2A	chr19:51897686-51898507	GM12892	blood:	n/a	n/a
8	POLR2A	chr19:51897232-51899094	GM18951	blood:	n/a	n/a
9	POLR2A	chr19:51897072-51898436	K562	blood:	n/a	n/a
10	CBX3	chr19:51898147-51899131	K562	blood:	n/a	n/a
11	POLR2A	chr19:51897183-51899102	GM15510	blood:	n/a	n/a
12	POLR2A	chr19:51897149-51899076	PBDE	blood:	n/a	n/a
13	RELA	chr19:51897064-51899026	GM18505	blood:	n/a	n/a
14	POLR2A	chr19:51897026-51899114	GM12892	blood:	n/a	n/a
15	POLR2A	chr19:51897677-51899123	GM12878	blood:	n/a	n/a
16	RELA	chr19:51897107-51899124	GM15510	blood:	n/a	n/a
17	POLR2A	chr19:51897006-51899056	GM12892	blood:	n/a	n/a
18	NR2F2	chr19:51896994-51899136	K562	blood:	n/a	n/a
19	POLR2A	chr19:51897133-51899123	GM18505	blood:	n/a	n/a
20	POLR2A	chr19:51897204-51899051	K562	blood:	n/a	n/a
21	HEY1	chr19:51897673-51898477	K562	blood:	n/a	n/a
22	POLR2A	chr19:51897097-51899114	K562	blood:	n/a	n/a
23	POLR2A	chr19:51897183-51899109	GM18526	blood:	n/a	n/a
24	RELA	chr19:51897216-51899095	GM10847	blood:	n/a	n/a
25	MAX	chr19:51897244-51899117	K562	blood:	n/a	chr19:51899006-51899015 chr19:51899007-51899014 chr19:51899006-51899016
26	HEY1	chr19:51897610-51899099	K562	blood:	n/a	chr19:51899006-51899015
27	E2F4	chr19:51897189-51898488	MCF10A-Er-Src	breast:	n/a	chr19:51897794-51897801 chr19:51897838-51897847 chr19:51897712-51897721
28	MAX	chr19:51897222-51898483	A549	lung:	n/a	n/a
29	POLR2A	chr19:51897683-51899175	GM12878	blood:	n/a	n/a
30	POLR2A	chr19:51897108-51899095	K562	blood:	n/a	n/a
31	PAX5	chr19:51898327-51899038	GM12878	blood:	n/a	n/a
32	CREB1	chr19:51896987-51898533	GM12878	blood:	n/a	n/a
33	POLR2A	chr19:51897154-51899132	GM19099	blood:	n/a	n/a
34	POLR2A	chr19:51896843-51899037	K562	blood:	n/a	n/a
35	POLR2A	chr19:51897627-51898413	HCT-116	colon:	n/a	n/a
36	MAX	chr19:51897016-51898524	A549	lung:	n/a	n/a
37	POLR2A	chr19:51898130-51898461	GM12878	blood:	n/a	n/a
38	ZNF384	chr19:51898249-51899161	K562	blood:	n/a	n/a
39	POLR2A	chr19:51897628-51899090	GM12891	blood:	n/a	n/a
40	SP1	chr19:51896956-51898514	HCT-116	colon:	n/a	chr19:51897667-51897679 chr19:51897667-51897679 chr19:51897701-51897722 chr19:51897517-51897531
41	UBTF	chr19:51897704-51898834	K562	blood:	n/a	n/a
42	RELA	chr19:51896983-51899067	GM12891	blood:	n/a	n/a
43	POLR2A	chr19:51897011-51899154	GM12891	blood:	n/a	n/a
44	POLR2A	chr19:51897076-51899166	GM12878	blood:	n/a	n/a
45	POLR2A	chr19:51896997-51898398	H1-hESC	embryonic stem cell:	n/a	n/a
46	POLR2A	chr19:51897142-51899119	Raji	blood:	n/a	n/a
47	POLR2A	chr19:51897233-51899069	GM19193	blood:	n/a	n/a
48	POLR2A	chr19:51897624-51898488	K562	blood:	n/a	n/a
49	POLR2A	chr19:51897247-51898514	HL-60	blood:	n/a	n/a
50	POLR2A	chr19:51897132-51898465	HCT-116	colon:	n/a	n/a

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:51897812..51899328-chr19:51901713..51903648,2	MCF-7	breast:
2	chr19:51869234..51872471-chr19:51897367..51899516,3	MCF-7	breast:
3	chr19:51897297..51899400-chr19:52095029..52099296,3	K562	blood:
4	chr19:51840838..51845657-chr19:51892354..51900411,18	K562	blood:
5	chr19:51897676..51900576-chr19:51905401..51907897,3	K562	blood:
6	chr19:51896400..51903695-chr19:51903717..51912186,11	K562	blood:
7	chr19:51829447..51832200-chr19:51897791..51899840,5	K562	blood:
8	chr19:51897857..51900350-chr19:51919819..51922051,2	K562	blood:
9	chr19:51847346..51848930-chr19:51897301..51899895,2	K562	blood:
10	chr19:51841257..51845442-chr19:51896216..51899567,12	K562	blood:
11	chr19:51897824..51898528-chr7:99970427..99970987,2	NB4	blood:
12	chr19:51867772..51875803-chr19:51892381..51899756,21	K562	blood:
13	chr19:51864453..51872845-chr19:51892428..51902096,29	K562	blood:
14	chr19:51889349..51894566-chr19:51895156..51899826,6	K562	blood:
15	chr19:51868903..51871265-chr19:51897328..51899243,2	MCF-7	breast:
16	chr19:51889722..51893942-chr19:51894149..51900029,8	K562	blood:

No data

Variant related genes	Relation type
C19orf84	TF binding region
ENSG00000105379	Chromatin interaction
ENSG00000267984	Chromatin interaction
ENSG00000267905	Chromatin interaction
ENSG00000160318	Chromatin interaction
ENSG00000262874	Chromatin interaction
ENSG00000269403	Chromatin interaction
ENSG00000167765	Chromatin interaction
ENSG00000142512	Chromatin interaction
ENSG00000268520	Chromatin interaction
ENSG00000105374	Chromatin interaction
ENSG00000269388	Chromatin interaction
ENSG00000268144	Chromatin interaction
ENSG00000105370	Chromatin interaction
ENSG00000186806	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs12327847	0.87[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1066308	chr19:51680133-52103974	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv544049	chr19:51680133-52103974	Bivalent Enhancer Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:51896800-51898600	Active TSS	HUES6 Cell Line	embryonic stem cell
2	chr19:51897000-51898400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
3	chr19:51897000-51898400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
4	chr19:51897000-51898400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
5	chr19:51897000-51898400	Flanking Active TSS	Fetal Muscle Trunk	muscle
6	chr19:51897000-51898400	Active TSS	Rectal Smooth Muscle	rectum
7	chr19:51897000-51898400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
8	chr19:51897000-51898600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr19:51897000-51898600	Active TSS	HSMM	muscle
10	chr19:51897000-51898800	Active TSS	H9 Cell Line	embryonic stem cell
11	chr19:51897000-51898800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr19:51897000-51898800	Active TSS	iPS-15b Cell Line	embryonic stem cell
13	chr19:51897000-51898800	Active TSS	iPS-18 Cell Line	embryonic stem cell
14	chr19:51897000-51898800	Flanking Active TSS	Fetal Thymus	thymus
15	chr19:51897000-51899000	Active TSS	ES-I3 Cell Line	embryonic stem cell
16	chr19:51897000-51899000	Active TSS	HUES64 Cell Line	embryonic stem cell
17	chr19:51897000-51899200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
18	chr19:51897200-51898400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
19	chr19:51897200-51898600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr19:51897200-51898800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr19:51897400-51898400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr19:51897400-51898400	Active TSS	Brain Anterior Caudate	brain
23	chr19:51897400-51898800	Active TSS	H1 Cell Line	embryonic stem cell
24	chr19:51897400-51898800	Active TSS	HUES48 Cell Line	embryonic stem cell
25	chr19:51897600-51898400	Enhancers	Fetal Brain Male	brain
26	chr19:51897600-51899000	Enhancers	Spleen	Spleen
27	chr19:51897800-51898400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
28	chr19:51897800-51898400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
29	chr19:51897800-51898400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr19:51897800-51898400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr19:51897800-51898400	Flanking Active TSS	Colonic Mucosa	Colon
32	chr19:51897800-51898400	Flanking Active TSS	Duodenum Mucosa	Duodenum
33	chr19:51897800-51898400	Flanking Active TSS	Fetal Muscle Leg	muscle
34	chr19:51897800-51898400	Flanking Active TSS	Fetal Stomach	stomach
35	chr19:51897800-51898400	Flanking Active TSS	NHDF-Ad	bronchial
36	chr19:51897800-51898400	Flanking Active TSS	Osteobl	bone
37	chr19:51897800-51898600	Flanking Active TSS	Hela-S3	cervix
38	chr19:51897800-51898600	Flanking Active TSS	HepG2	liver
39	chr19:51897800-51898800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr19:51897800-51899000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
41	chr19:51897800-51899800	Flanking Active TSS	GM12878-XiMat	blood
42	chr19:51898000-51898400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
43	chr19:51898000-51898400	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr19:51898000-51898400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
45	chr19:51898000-51898400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
46	chr19:51898000-51898400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr19:51898000-51898400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr19:51898000-51898400	Flanking Active TSS	Fetal Brain Female	brain
49	chr19:51898000-51898400	Flanking Active TSS	Fetal Heart	heart
50	chr19:51898000-51898400	Flanking Active TSS	A549	lung

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