Variant report

Variant	rs73049853
Chromosome Location	chr19:36975945-36975946
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:36974608..36976540-chr19:36978966..36980563,2	MCF-7	breast:
2	chr19:36973873..36977110-chr19:36978222..36981283,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000267309	Chromatin interaction
ENSG00000186017	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs17707014	0.81[AMR][1000 genomes]
rs17707021	0.85[AMR][1000 genomes]
rs2891868	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4514798	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4806328	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4806333	0.85[AMR][1000 genomes]
rs55743839	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55801623	0.82[AMR][1000 genomes]
rs55830504	0.85[AMR][1000 genomes]
rs55880628	0.83[AMR][1000 genomes]
rs55933007	0.85[AMR][1000 genomes]
rs56054915	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56075402	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56183102	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56246998	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6510549	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7249099	0.94[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7252262	0.84[AFR][1000 genomes]
rs7259057	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73032465	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73032484	0.85[AMR][1000 genomes]
rs73032489	0.85[AMR][1000 genomes]
rs73032502	0.85[AMR][1000 genomes]
rs73034109	0.85[AMR][1000 genomes]
rs73049817	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73049826	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73049844	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73049851	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8100340	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8102097	0.83[AMR][1000 genomes]
rs8103168	0.87[ASN][1000 genomes]
rs8103917	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8104087	0.87[ASN][1000 genomes]
rs8104893	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8105973	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8110140	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8111192	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833816	chr19:36824257-37034287	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	nsv1064851	chr19:36910259-37689721	Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
3	nsv911648	chr19:36914171-37047472	Weak transcription Active TSS Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	nsv1065698	chr19:36916796-37690124	Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
5	nsv543999	chr19:36916796-37690124	Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
6	nsv1067364	chr19:36921204-36985874	ZNF genes & repeats Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv529817	chr19:36930549-37654062	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36936400-36978400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr19:36941000-36979000	Weak transcription	Hela-S3	cervix
3	chr19:36945800-36979000	Weak transcription	Fetal Heart	heart
4	chr19:36947600-36977400	ZNF genes & repeats	Liver	Liver
5	chr19:36957200-36979600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr19:36957400-36979400	Weak transcription	NH-A	brain
7	chr19:36960400-36979600	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr19:36963400-36979200	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr19:36964000-36979800	Weak transcription	Esophagus	oesophagus
10	chr19:36964200-36978200	Weak transcription	Brain Angular Gyrus	brain
11	chr19:36964200-36979000	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr19:36964200-36979000	Weak transcription	Osteobl	bone
13	chr19:36964200-36979200	Weak transcription	Stomach Mucosa	stomach
14	chr19:36964200-36979400	Weak transcription	Brain Anterior Caudate	brain
15	chr19:36964200-36979600	Weak transcription	Placenta	Placenta
16	chr19:36964200-36979600	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr19:36964400-36978800	Weak transcription	K562	blood
18	chr19:36964400-36979000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr19:36964600-36979200	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr19:36964600-36979400	Weak transcription	Brain Cingulate Gyrus	brain
21	chr19:36964800-36979600	Weak transcription	Fetal Kidney	kidney
22	chr19:36965400-36979200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr19:36965800-36978000	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr19:36966400-36978400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr19:36966400-36979000	Weak transcription	Colon Smooth Muscle	Colon
26	chr19:36966400-36979200	Weak transcription	Adipose Nuclei	Adipose
27	chr19:36966400-36979600	Weak transcription	HSMMtube	muscle
28	chr19:36966600-36977000	Weak transcription	Dnd41	blood
29	chr19:36966600-36978200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr19:36966600-36979000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr19:36966600-36979000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr19:36966600-36979000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr19:36966600-36979400	Weak transcription	Right Ventricle	heart
34	chr19:36967800-36979000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr19:36967800-36979600	Weak transcription	Left Ventricle	heart
36	chr19:36968600-36977200	ZNF genes & repeats	Fetal Brain Female	brain
37	chr19:36970000-36978000	Weak transcription	Stomach Smooth Muscle	stomach
38	chr19:36970000-36979000	Weak transcription	Pancreas	Pancrea
39	chr19:36970000-36979200	Weak transcription	HSMM	muscle
40	chr19:36970000-36979600	Weak transcription	Psoas Muscle	Psoas
41	chr19:36970000-36979600	Weak transcription	Rectal Smooth Muscle	rectum
42	chr19:36970600-36979000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr19:36970800-36976200	Weak transcription	Thymus	Thymus
44	chr19:36970800-36979800	Weak transcription	Spleen	Spleen
45	chr19:36971800-36979000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr19:36973200-36977600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr19:36973200-36979200	Weak transcription	NHEK	skin
48	chr19:36973600-36976000	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr19:36973800-36979400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr19:36974000-36976000	Strong transcription	Primary T helper cells PMA-I stimulated	--

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