Variant report

Variant	rs57030846
Chromosome Location	chr19:18948453-18948454
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:18549229..18551891-chr19:18947314..18949690,2	K562	blood:
2	chr19:18893741..18897746-chr19:18945981..18952333,7	K562	blood:
3	chr19:18682558..18684067-chr19:18947357..18950283,2	K562	blood:
4	chr19:18895462..18897674-chr19:18946976..18949711,3	K562	blood:
5	chr19:18947620..18949384-chr19:19050950..19052688,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000269019	Chromatin interaction
ENSG00000051128	Chromatin interaction
ENSG00000221983	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10405364	1.00[ASN][1000 genomes]
rs10420445	1.00[ASN][1000 genomes]
rs11665939	0.94[ASN][1000 genomes]
rs11667922	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11669119	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11670447	0.96[ASN][1000 genomes]
rs11670952	1.00[ASN][1000 genomes]
rs3787045	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73923167	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73923168	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73923171	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73923173	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73923178	0.81[AFR][1000 genomes];0.90[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	nsv911293	chr19:18872917-19050957	Flanking Active TSS Genic enhancers Strong transcription Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv911294	chr19:18872917-19093619	Active TSS Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv833777	chr19:18875936-19031076	Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv911297	chr19:18928480-19077385	Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
5	nsv911298	chr19:18928480-19093619	Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
6	nsv911299	chr19:18939954-18984843	Active TSS Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv911300	chr19:18944025-19093619	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18945200-18948800	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
2	chr19:18945200-18949200	Strong transcription	Fetal Muscle Trunk	muscle
3	chr19:18945200-18951600	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr19:18945200-18952200	Genic enhancers	Primary T cells fromperipheralblood	blood
5	chr19:18945200-18956600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr19:18945400-18948800	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
7	chr19:18945400-18950600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr19:18945400-18952600	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
9	chr19:18945600-18948600	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr19:18945600-18948600	Strong transcription	NHLF	lung
11	chr19:18945600-18948600	Strong transcription	Osteobl	bone
12	chr19:18945600-18948800	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr19:18945600-18948800	Strong transcription	HSMM	muscle
14	chr19:18945600-18949200	Genic enhancers	Primary T helper cells fromperipheralblood	blood
15	chr19:18945600-18949400	Strong transcription	HUES6 Cell Line	embryonic stem cell
16	chr19:18945600-18949800	Genic enhancers	HepG2	liver
17	chr19:18945600-18950200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr19:18945600-18950200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr19:18945600-18950200	Strong transcription	Fetal Muscle Leg	muscle
20	chr19:18945600-18950200	Weak transcription	HSMMtube	muscle
21	chr19:18945600-18950400	Genic enhancers	Duodenum Mucosa	Duodenum
22	chr19:18945600-18950400	Strong transcription	Fetal Stomach	stomach
23	chr19:18945600-18950600	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr19:18945600-18953200	Weak transcription	Aorta	Aorta
25	chr19:18945800-18948800	Strong transcription	Primary hematopoietic stem cells	blood
26	chr19:18945800-18948800	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
27	chr19:18945800-18948800	Genic enhancers	Rectal Mucosa Donor 29	rectum
28	chr19:18945800-18949800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr19:18945800-18950000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr19:18945800-18950200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr19:18945800-18950400	Genic enhancers	Primary T helper cells PMA-I stimulated	--
32	chr19:18945800-18950600	Genic enhancers	Fetal Intestine Large	intestine
33	chr19:18945800-18952400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr19:18945800-18953000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
35	chr19:18945800-18955000	Genic enhancers	Fetal Intestine Small	intestine
36	chr19:18946000-18949200	Strong transcription	HUES48 Cell Line	embryonic stem cell
37	chr19:18946000-18950200	Weak transcription	Brain Angular Gyrus	brain
38	chr19:18946000-18950400	Weak transcription	Fetal Heart	heart
39	chr19:18946000-18952600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr19:18946200-18958200	Weak transcription	Fetal Kidney	kidney
41	chr19:18946400-18949800	Strong transcription	HUES64 Cell Line	embryonic stem cell
42	chr19:18946600-18949200	Genic enhancers	Liver	Liver
43	chr19:18946600-18949600	Weak transcription	Primary B cells from cord blood	blood
44	chr19:18946600-18950200	Strong transcription	A549	lung
45	chr19:18946600-18950400	Strong transcription	Thymus	Thymus
46	chr19:18946800-18948800	Genic enhancers	Dnd41	blood
47	chr19:18946800-18949000	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr19:18946800-18949000	Strong transcription	Cortex derived primary cultured neurospheres	brain
49	chr19:18946800-18949000	Genic enhancers	Duodenum Smooth Muscle	Duodenum
50	chr19:18946800-18949000	Strong transcription	Placenta	Placenta

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