Variant report

Variant	rs8100983
Chromosome Location	chr19:18997991-18997992
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RCOR1	chr19:18997843-18998043	K562	blood:	n/a	n/a
2	MAX	chr19:18997849-18998135	K562	blood:	n/a	n/a
3	SUZ12	chr19:18997819-18998081	H1-hESC	embryonic stem cell:	n/a	n/a
4	RCOR1	chr19:18997838-18998057	K562	blood:	n/a	n/a
5	CBX3	chr19:18997816-18998089	K562	blood:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:18996743..19000878-chr19:19003424..19007509,5	MCF-7	breast:
2	chr19:18990650..18993466-chr19:18995996..18998578,2	K562	blood:
3	chr19:18992522..18994119-chr19:18996300..18998941,2	K562	blood:

No data

Variant related genes	Relation type
CERS1	TF binding region
ENSG00000223802	Chromatin interaction
ENSG00000269694	Chromatin interaction
ENSG00000130283	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs57677886	0.83[AMR][1000 genomes]
rs73526937	0.83[AMR][1000 genomes]
rs8104177	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	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
7	nsv470132	chr19:18964442-19054720	Active TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
8	nsv911301	chr19:18994638-19077385	Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
9	nsv911302	chr19:18995201-19088981	Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18980400-19004000	Weak transcription	Psoas Muscle	Psoas
2	chr19:18980400-19004200	Strong transcription	Cortex derived primary cultured neurospheres	brain
3	chr19:18981400-18998000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr19:18981800-19005800	Weak transcription	Right Atrium	heart
5	chr19:18982000-19002200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr19:18982600-19000800	Weak transcription	Colon Smooth Muscle	Colon
7	chr19:18983400-18998200	Strong transcription	Brain Cingulate Gyrus	brain
8	chr19:18984000-19004200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr19:18985600-19004400	Weak transcription	Fetal Brain Male	brain
10	chr19:18987200-19004200	Weak transcription	HSMMtube	muscle
11	chr19:18988000-19005400	Weak transcription	A549	lung
12	chr19:18988200-19004800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr19:18988400-18998400	Strong transcription	Fetal Muscle Leg	muscle
14	chr19:18989200-18999000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr19:18989200-18999200	Strong transcription	Fetal Brain Female	brain
16	chr19:18990200-19004000	Strong transcription	Fetal Stomach	stomach
17	chr19:18991400-19004400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr19:18992000-19002000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr19:18993000-19000400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr19:18994400-19004800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr19:18994600-19004400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr19:18994800-19005400	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr19:18995000-18998400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr19:18995000-19002000	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr19:18995000-19004800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr19:18995000-19005200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr19:18995200-19004000	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr19:18995200-19005200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr19:18996400-18998400	Strong transcription	Brain Hippocampus Middle	brain
30	chr19:18996600-18998200	Strong transcription	Fetal Muscle Trunk	muscle
31	chr19:18996600-18998400	Strong transcription	Brain Anterior Caudate	brain
32	chr19:18996600-18998400	Strong transcription	Brain Substantia Nigra	brain
33	chr19:18996600-18999000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr19:18996600-19000600	Strong transcription	Brain Inferior Temporal Lobe	brain
35	chr19:18996800-18998200	Strong transcription	HUES6 Cell Line	embryonic stem cell
36	chr19:18996800-18999000	Strong transcription	Brain Germinal Matrix	brain
37	chr19:18997200-18998400	Strong transcription	HUES64 Cell Line	embryonic stem cell
38	chr19:18997200-18998400	Strong transcription	Brain Angular Gyrus	brain
39	chr19:18997200-19002000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr19:18997400-18998200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr19:18997600-19002000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr19:18997800-18998200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr19:18997800-18998200	ZNF genes & repeats	Fetal Intestine Small	intestine
44	chr19:18997800-19004200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr19:18997800-19005200	Weak transcription	H1 Cell Line	embryonic stem cell

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