Variant report

Variant	rs73043014
Chromosome Location	chr19:38827800-38827801
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:27)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:27 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:38804679..38808674-chr19:38824887..38827856,7	K562	blood:
2	chr19:38715608..38719883-chr19:38825304..38828918,6	K562	blood:
3	chr19:38824766..38830853-chr19:38863348..38868089,16	MCF-7	breast:
4	chr19:38825004..38828693-chr19:38863595..38867873,9	K562	blood:
5	chr19:38823410..38828693-chr19:38863569..38867873,9	K562	blood:
6	chr19:38791989..38796796-chr19:38825093..38829391,7	MCF-7	breast:
7	chr19:38825537..38827989-chr19:38835886..38838412,2	K562	blood:
8	chr19:38753791..38756428-chr19:38824915..38829046,7	MCF-7	breast:
9	chr19:38826255..38829380-chr19:38850634..38854376,3	MCF-7	breast:
10	chr19:38824957..38829265-chr19:38874295..38879043,8	MCF-7	breast:
11	chr19:38826223..38828930-chr19:38842574..38845020,2	MCF-7	breast:
12	chr19:38793982..38798570-chr19:38826004..38829304,4	K562	blood:
13	chr19:38826489..38830578-chr19:38835148..38838719,4	K562	blood:
14	chr19:38825745..38829204-chr19:38906597..38909224,3	K562	blood:
15	chr19:38824024..38830842-chr19:38863522..38868048,10	MCF-7	breast:
16	chr19:38793475..38795482-chr19:38826442..38828638,2	K562	blood:
17	chr19:38733984..38735573-chr19:38825634..38828607,2	K562	blood:
18	chr19:38827274..38829284-chr19:38833779..38835815,2	MCF-7	breast:
19	chr19:38746246..38748291-chr19:38825736..38828521,3	K562	blood:
20	chr19:38806332..38809400-chr19:38825014..38828541,5	K562	blood:
21	chr19:38712277..38715341-chr19:38824721..38827828,3	K562	blood:
22	chr19:38777648..38780643-chr19:38825334..38827865,2	K562	blood:
23	chr19:38745286..38748830-chr19:38824490..38828580,5	K562	blood:
24	chr19:38825387..38828116-chr19:38877119..38879831,3	MCF-7	breast:
25	chr19:38826766..38829028-chr19:38851929..38854753,2	K562	blood:
26	chr19:38810007..38812286-chr19:38825422..38828123,4	MCF-7	breast:
27	chr19:38825542..38827860-chr19:38892803..38895034,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000130244	Chromatin interaction
ENSG00000171777	Chromatin interaction
ENSG00000099337	Chromatin interaction
ENSG00000099341	Chromatin interaction
ENSG00000167644	Chromatin interaction
ENSG00000167642	Chromatin interaction
ENSG00000179168	Chromatin interaction
ENSG00000099338	Chromatin interaction
ENSG00000167641	Chromatin interaction
ENSG00000167645	Chromatin interaction
ENSG00000266963	Chromatin interaction
ENSG00000011332	Chromatin interaction
ENSG00000267748	Chromatin interaction
ENSG00000267090	Chromatin interaction
ENSG00000188766	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1060454	0.92[ASN][1000 genomes]
rs2270092	1.00[ASN][1000 genomes]
rs2286548	0.92[ASN][1000 genomes]
rs2302185	0.84[ASN][1000 genomes]
rs2302187	0.92[ASN][1000 genomes]
rs3745953	0.92[ASN][1000 genomes]
rs3786881	0.92[ASN][1000 genomes]
rs3786882	0.92[ASN][1000 genomes]
rs3885340	0.87[EUR][1000 genomes]
rs61734615	0.87[EUR][1000 genomes]
rs73037321	0.87[EUR][1000 genomes]
rs73037333	0.84[EUR][1000 genomes]
rs73037343	0.87[EUR][1000 genomes]
rs73037346	0.87[EUR][1000 genomes]
rs73041292	0.87[EUR][1000 genomes]
rs73043012	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73043013	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73043015	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73043019	1.00[EUR][1000 genomes]
rs73043021	1.00[EUR][1000 genomes]
rs73043022	1.00[EUR][1000 genomes]
rs73043027	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs73043028	1.00[EUR][1000 genomes]
rs73043029	0.97[EUR][1000 genomes]
rs73043030	0.84[EUR][1000 genomes]
rs73043033	0.84[EUR][1000 genomes]
rs73043098	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063471	chr19:38734744-39148392	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	73 gene(s)	inside rSNPs	diseases
2	nsv833822	chr19:38760748-38945105	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
3	nsv911658	chr19:38785318-39002140	Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
4	esv21001	chr19:38826488-38827974	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:205 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38825600-38827800	Active TSS	Brain Inferior Temporal Lobe	brain
2	chr19:38825800-38827800	Active TSS	Osteobl	bone
3	chr19:38826000-38827800	Active TSS	HUES48 Cell Line	embryonic stem cell
4	chr19:38826000-38827800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr19:38826000-38827800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr19:38826000-38827800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr19:38826000-38827800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr19:38826000-38828000	Active TSS	H9 Cell Line	embryonic stem cell
9	chr19:38826000-38828000	Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr19:38826000-38828000	Active TSS	Fetal Brain Female	brain
11	chr19:38826000-38828200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr19:38826000-38828200	Active TSS	HSMM	muscle
13	chr19:38826200-38827800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr19:38826200-38827800	Active TSS	Primary neutrophils fromperipheralblood	blood
15	chr19:38826200-38827800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
16	chr19:38826200-38827800	Active TSS	Thymus	Thymus
17	chr19:38826200-38828000	Active TSS	Fetal Kidney	kidney
18	chr19:38826200-38828200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr19:38826200-38828200	Active TSS	Brain Anterior Caudate	brain
20	chr19:38826400-38827800	Active TSS	H1 Cell Line	embryonic stem cell
21	chr19:38826400-38827800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr19:38826400-38827800	Active TSS	iPS-18 Cell Line	embryonic stem cell
23	chr19:38826400-38827800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr19:38826400-38827800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr19:38826400-38827800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
26	chr19:38826400-38827800	Active TSS	Breast Myoepithelial Primary Cells	Breast
27	chr19:38826400-38827800	Active TSS	Primary B cells from peripheral blood	blood
28	chr19:38826400-38827800	Active TSS	Primary T helper naive cells from peripheral blood	blood
29	chr19:38826400-38827800	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
30	chr19:38826400-38827800	Active TSS	Primary T helper cells PMA-I stimulated	--
31	chr19:38826400-38827800	Active TSS	Primary T helper cells fromperipheralblood	blood
32	chr19:38826400-38827800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr19:38826400-38827800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
34	chr19:38826400-38827800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr19:38826400-38827800	Active TSS	Brain Angular Gyrus	brain
36	chr19:38826400-38827800	Active TSS	Brain Cingulate Gyrus	brain
37	chr19:38826400-38827800	Active TSS	Brain Hippocampus Middle	brain
38	chr19:38826400-38827800	Active TSS	Colonic Mucosa	Colon
39	chr19:38826400-38827800	Active TSS	Colon Smooth Muscle	Colon
40	chr19:38826400-38827800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
41	chr19:38826400-38827800	Active TSS	Fetal Intestine Large	intestine
42	chr19:38826400-38827800	Active TSS	Fetal Intestine Small	intestine
43	chr19:38826400-38827800	Active TSS	Fetal Thymus	thymus
44	chr19:38826400-38827800	Active TSS	Left Ventricle	heart
45	chr19:38826400-38827800	Active TSS	Psoas Muscle	Psoas
46	chr19:38826400-38827800	Active TSS	Rectal Mucosa Donor 31	rectum
47	chr19:38826400-38827800	Active TSS	Stomach Mucosa	stomach
48	chr19:38826400-38827800	Active TSS	A549	lung
49	chr19:38826400-38827800	Active TSS	HMEC	breast
50	chr19:38826400-38827800	Active TSS	NHEK	skin

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