Variant report

Variant	rs73530903
Chromosome Location	chr19:19991079-19991080
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:19779787..19782276-chr19:19989567..19991864,2	K562	blood:
2	chr19:19774128..19775770-chr19:19988439..19991288,2	K562	blood:

Variant related genes	Relation type
ENSG00000105726	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10406883	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11786	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11881376	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16994693	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2060238	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2098331	1.00[ASN][1000 genomes]
rs2335372	1.00[ASN][1000 genomes]
rs55696844	1.00[ASN][1000 genomes]
rs55849911	1.00[ASN][1000 genomes]
rs55984158	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57088108	1.00[ASN][1000 genomes]
rs57575150	1.00[ASN][1000 genomes]
rs57920747	1.00[ASN][1000 genomes]
rs58922627	0.86[ASN][1000 genomes]
rs58948242	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs59511604	1.00[ASN][1000 genomes]
rs59795312	0.93[EUR][1000 genomes]
rs60409469	1.00[ASN][1000 genomes]
rs60588790	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7249318	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7251285	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7253023	1.00[ASN][1000 genomes]
rs7254824	1.00[ASN][1000 genomes]
rs73530906	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73530911	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73530927	0.80[AFR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73530932	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73530989	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73530999	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73925530	0.80[AFR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73925536	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73925537	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8104442	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8104555	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063273	chr19:19591146-20061367	ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv911314	chr19:19866371-20021046	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv519535	chr19:19871250-20595412	Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	56 gene(s)	inside rSNPs	diseases
4	nsv911315	chr19:19872093-20021046	Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	nsv911316	chr19:19890450-20021046	Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv961192	chr19:19906394-20083740	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	esv3319016	chr19:19917475-20819154	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	56 gene(s)	inside rSNPs	diseases
8	esv3319017	chr19:19917475-20819154	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	56 gene(s)	inside rSNPs	diseases
9	esv3413756	chr19:19936066-20072059	ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
10	esv3380276	chr19:19936583-20073601	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
11	nsv1066792	chr19:19940585-20000701	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
12	esv3429980	chr19:19943721-20102072	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
13	nsv1061846	chr19:19946927-20595412	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	47 gene(s)	inside rSNPs	diseases
14	esv3390957	chr19:19965887-20819154	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	53 gene(s)	inside rSNPs	diseases
15	nsv869122	chr19:19969851-20595412	ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	47 gene(s)	inside rSNPs	diseases
16	nsv1057569	chr19:19973268-20193556	Enhancers Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
17	nsv1059158	chr19:19973489-20576161	Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19977600-19995600	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr19:19977600-20006800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr19:19977800-19993200	Weak transcription	Spleen	Spleen
4	chr19:19978200-19993600	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr19:19978600-19992400	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr19:19978600-19995200	Weak transcription	Pancreas	Pancrea
7	chr19:19978600-19996800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr19:19978600-19999000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr19:19978600-19999000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr19:19978600-19999000	Weak transcription	Right Ventricle	heart
11	chr19:19978800-20007600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr19:19979000-20004000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
13	chr19:19979200-20007400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr19:19979400-19996400	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr19:19979400-19996800	Weak transcription	Brain Substantia Nigra	brain
16	chr19:19979400-20008200	ZNF genes & repeats	Liver	Liver
17	chr19:19979600-19991200	Weak transcription	Stomach Smooth Muscle	stomach
18	chr19:19979600-19992800	Weak transcription	Brain Angular Gyrus	brain
19	chr19:19979600-19992800	Weak transcription	Rectal Smooth Muscle	rectum
20	chr19:19979600-19996800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr19:19980000-19991200	Weak transcription	Brain Hippocampus Middle	brain
22	chr19:19980200-20001000	Weak transcription	Fetal Heart	heart
23	chr19:19981000-19995800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
24	chr19:19982000-19995000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr19:19982000-19995600	ZNF genes & repeats	Fetal Brain Female	brain
26	chr19:19982000-19995800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
27	chr19:19982400-19992200	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr19:19982400-20000200	Weak transcription	Gastric	stomach
29	chr19:19982600-19993000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr19:19983000-19993400	Weak transcription	Osteobl	bone
31	chr19:19983200-19996600	Weak transcription	Brain Anterior Caudate	brain
32	chr19:19984000-19993000	Weak transcription	HSMM	muscle
33	chr19:19984200-19991400	ZNF genes & repeats	Primary B cells from cord blood	blood
34	chr19:19984200-19999400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr19:19984600-19993200	Weak transcription	K562	blood
36	chr19:19985400-19991200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr19:19985400-19991200	Weak transcription	Lung	lung
38	chr19:19985600-19991200	Weak transcription	Aorta	Aorta
39	chr19:19985800-19992200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr19:19986800-20004800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr19:19987000-19991200	Weak transcription	HepG2	liver
42	chr19:19988000-20001400	Weak transcription	Colon Smooth Muscle	Colon
43	chr19:19988600-19991200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr19:19988600-20003800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr19:19988800-19991800	Strong transcription	HUES64 Cell Line	embryonic stem cell
46	chr19:19989000-19994600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr19:19989000-19998200	Weak transcription	Ovary	ovary
48	chr19:19989200-19995600	Strong transcription	Primary T helper cells fromperipheralblood	blood
49	chr19:19989400-19995600	Strong transcription	Primary T helper cells PMA-I stimulated	--
50	chr19:19989600-19992200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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