Variant report

Variant	rs73004898
Chromosome Location	chr19:19098116-19098117
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr19:19097301-19098120	SK-N-SH	brain:	n/a	chr19:19097637-19097651
2	RAD21	chr19:19097296-19098137	HCT-116	colon:	n/a	chr19:19097637-19097651
3	RAD21	chr19:19097439-19098136	MCF-7	breast:	n/a	chr19:19097637-19097651
4	CTCF	chr19:19097394-19098150	A549	lung:	n/a	n/a
5	CTCF	chr19:19098040-19098190	BE2_C	brain:	n/a	n/a
6	NFATC1	chr19:19097625-19098150	GM12878	blood:	n/a	n/a
7	CTCF	chr19:19097211-19098193	SK-N-SH	brain:	n/a	n/a
8	SMC3	chr19:19097314-19098265	SK-N-SH	brain:	n/a	chr19:19097735-19097745
9	RAD21	chr19:19097252-19098196	HCT-116	colon:	n/a	chr19:19097637-19097651
10	CTCF	chr19:19097289-19098156	HCT-116	colon:	n/a	n/a
11	CTCF	chr19:19098040-19098190	WI-38	lung:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr19:19051670..19052192-chr19:19097591..19098255,2	MCF-7	breast:
2	chr19:18977096..18978227-chr19:19097259..19098244,6	K562	blood:
3	chr19:19049878..19052587-chr19:19097016..19099654,4	MCF-7	breast:
4	chr19:19048490..19051471-chr19:19097448..19100408,2	K562	blood:
5	chr19:18977079..18977984-chr19:19097300..19098157,3	MCF-7	breast:
6	chr19:19096426..19099301-chr19:19099737..19102756,3	MCF-7	breast:
7	chr19:19097919..19099473-chr19:19231446..19233311,2	K562	blood:
8	chr19:19086874..19091371-chr19:19096444..19100736,4	K562	blood:
9	chr19:19096487..19099178-chr19:19102823..19104389,2	MCF-7	breast:
10	chr19:19031164..19034036-chr19:19094993..19099156,4	MCF-7	breast:
11	chr19:19039541..19041995-chr19:19096348..19099179,2	MCF-7	breast:
12	chr19:19051815..19052595-chr19:19097317..19098228,4	MCF-7	breast:
13	chr19:19028621..19032208-chr19:19096028..19099996,7	MCF-7	breast:
14	chr19:19005482..19006695-chr19:19097291..19098316,11	MCF-7	breast:
15	chr19:18580824..18581435-chr19:19097261..19098144,2	K562	blood:
16	chr19:19038588..19040520-chr19:19096486..19099319,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000269131	TF binding region
ENSG00000064607	Chromatin interaction
ENSG00000269019	Chromatin interaction
ENSG00000105669	Chromatin interaction
ENSG00000051128	Chromatin interaction
ENSG00000269131	Chromatin interaction
ENSG00000105671	Chromatin interaction
ENSG00000064545	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10164302	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10221450	0.87[EUR][1000 genomes]
rs10221529	0.87[EUR][1000 genomes]
rs11549380	0.97[EUR][1000 genomes]
rs28498174	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4808171	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4808178	1.00[EUR][1000 genomes]
rs4808180	0.97[EUR][1000 genomes]
rs4808181	0.87[EUR][1000 genomes]
rs4808896	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4808897	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4808899	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4808909	0.95[EUR][1000 genomes]
rs4808910	0.95[EUR][1000 genomes]
rs4808912	0.97[EUR][1000 genomes]
rs4808914	0.97[EUR][1000 genomes]
rs4808915	0.97[EUR][1000 genomes]
rs4808921	0.87[EUR][1000 genomes]
rs4808922	0.87[EUR][1000 genomes]
rs55658345	0.97[EUR][1000 genomes]
rs55678828	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56141206	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56144126	0.87[EUR][1000 genomes]
rs56159042	0.84[EUR][1000 genomes]
rs56227420	0.87[EUR][1000 genomes]
rs60489867	0.97[EUR][1000 genomes]
rs60696741	0.97[EUR][1000 genomes]
rs72993458	0.87[EUR][1000 genomes]
rs72993462	0.85[EUR][1000 genomes]
rs73004899	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73006907	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73006928	0.97[EUR][1000 genomes]
rs73008923	1.00[EUR][1000 genomes]
rs73008928	1.00[EUR][1000 genomes]
rs73008930	1.00[EUR][1000 genomes]
rs73008934	0.98[EUR][1000 genomes]
rs73008939	1.00[EUR][1000 genomes]
rs73008945	0.97[EUR][1000 genomes]
rs73008949	0.97[EUR][1000 genomes]
rs73008958	0.97[EUR][1000 genomes]
rs73008960	0.97[EUR][1000 genomes]
rs73010908	0.87[EUR][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	nsv833778	chr19:19012669-19201487	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
2	nsv2435	chr19:19077432-19122579	Strong transcription Bivalent Enhancer Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19084200-19107800	Weak transcription	Right Atrium	heart
2	chr19:19094800-19099200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr19:19096200-19101600	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr19:19096200-19104000	Weak transcription	Primary B cells from cord blood	blood
5	chr19:19096400-19100800	Weak transcription	Fetal Brain Female	brain
6	chr19:19096400-19101000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr19:19096400-19102200	Weak transcription	Primary B cells from peripheral blood	blood
8	chr19:19096400-19103400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr19:19096400-19103600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr19:19096600-19101400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr19:19096600-19103400	Weak transcription	NH-A	brain
12	chr19:19096800-19101200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr19:19096800-19102400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr19:19096800-19104000	Weak transcription	Primary hematopoietic stem cells	blood
15	chr19:19097000-19101800	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr19:19097200-19098200	Enhancers	Rectal Mucosa Donor 29	rectum
17	chr19:19097400-19098200	Enhancers	K562	blood
18	chr19:19097400-19098400	Enhancers	HepG2	liver
19	chr19:19097600-19098200	Enhancers	Stomach Mucosa	stomach
20	chr19:19097600-19100000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr19:19097600-19101000	Weak transcription	Spleen	Spleen
22	chr19:19097600-19101200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr19:19097600-19101800	Weak transcription	NHLF	lung
24	chr19:19097600-19102000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr19:19097600-19102400	Weak transcription	Left Ventricle	heart
26	chr19:19097600-19103400	Weak transcription	HUVEC	blood vessel
27	chr19:19097600-19103600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr19:19097800-19098400	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
29	chr19:19097800-19099400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr19:19097800-19100200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr19:19097800-19101000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr19:19097800-19101200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr19:19097800-19101200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr19:19098000-19098200	Bivalent Enhancer	Duodenum Mucosa	Duodenum
35	chr19:19098000-19098200	Bivalent Enhancer	Fetal Muscle Leg	muscle
36	chr19:19098000-19098800	Enhancers	Brain Germinal Matrix	brain
37	chr19:19098000-19099800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr19:19098000-19100200	Weak transcription	Adipose Nuclei	Adipose
39	chr19:19098000-19100200	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr19:19098000-19100200	Weak transcription	Fetal Heart	heart
41	chr19:19098000-19100600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr19:19098000-19100600	Weak transcription	Fetal Intestine Large	intestine
43	chr19:19098000-19100800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr19:19098000-19100800	Weak transcription	Fetal Lung	lung
45	chr19:19098000-19101000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr19:19098000-19101000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr19:19098000-19101000	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr19:19098000-19101000	Weak transcription	Brain Anterior Caudate	brain
49	chr19:19098000-19101000	Weak transcription	Brain Hippocampus Middle	brain
50	chr19:19098000-19101000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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