Variant report

Variant	rs7864553
Chromosome Location	chr9:19102343-19102344
allele	G/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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:19090764..19093304-chr9:19100948..19103618,2	K562	blood:
2	chr17:16356088..16356825-chr9:19102000..19102715,2	NB4	blood:
3	chr9:19101429..19104985-chr9:19125580..19131342,7	K562	blood:
4	chr9:19098429..19101130-chr9:19101314..19102834,2	MCF-7	breast:
5	chr9:19100539..19103049-chr9:19229555..19232279,2	MCF-7	breast:
6	chr9:19048660..19050563-chr9:19101012..19103938,3	MCF-7	breast:
7	chr9:19101057..19103224-chr9:19126510..19128425,2	MCF-7	breast:
8	chr20:45985448..45986324-chr9:19102279..19102911,2	NB4	blood:
9	chr9:19101585..19104581-chr9:19376208..19378987,2	K562	blood:
10	chr9:19100757..19103077-chr9:19112817..19114511,2	MCF-7	breast:
11	chr9:19078940..19081412-chr9:19100972..19102814,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000137154	Chromatin interaction
ENSG00000147874	Chromatin interaction
ENSG00000101040	Chromatin interaction
ENSG00000147872	Chromatin interaction
ENSG00000137145	Chromatin interaction
ENSG00000155876	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10465047	0.97[ASN][1000 genomes]
rs10511670	0.81[ASN][1000 genomes]
rs10511671	0.87[ASN][1000 genomes]
rs10811112	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10811113	0.97[ASN][1000 genomes]
rs10963930	0.80[ASN][1000 genomes]
rs10963943	0.90[ASN][1000 genomes]
rs10963944	0.90[ASN][1000 genomes]
rs10963950	0.97[ASN][1000 genomes]
rs10963953	0.97[ASN][1000 genomes]
rs10963955	0.93[ASN][1000 genomes]
rs10963958	0.93[ASN][1000 genomes]
rs10963962	0.93[ASN][1000 genomes]
rs10963964	0.87[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs10963966	0.87[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs11788135	0.97[ASN][1000 genomes]
rs13291632	0.97[ASN][1000 genomes]
rs13302453	0.87[ASN][1000 genomes]
rs16937320	0.90[ASN][1000 genomes]
rs2291502	0.87[ASN][1000 genomes]
rs34490350	0.87[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs35000581	0.87[AFR][1000 genomes]
rs35448309	0.92[ASN][1000 genomes]
rs35553284	0.90[ASN][1000 genomes]
rs35874966	0.87[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs36087651	0.93[ASN][1000 genomes]
rs3780221	0.87[ASN][1000 genomes]
rs7026759	0.95[ASN][1000 genomes]
rs7031392	0.84[ASN][1000 genomes]
rs7040525	0.92[ASN][1000 genomes]
rs71508774	0.90[ASN][1000 genomes]
rs71508775	0.93[ASN][1000 genomes]
rs71508776	0.93[ASN][1000 genomes]
rs73645573	0.84[ASN][1000 genomes]
rs7852850	0.90[ASN][1000 genomes]
rs7865126	0.87[AFR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017820	chr9:18882219-19587377	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
2	nsv540078	chr9:18882219-19587377	Genic enhancers Transcr. at gene 5' and 3' Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
3	nsv892700	chr9:18979441-19156784	Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv1028623	chr9:19034742-19394712	Strong transcription Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
5	nsv540079	chr9:19034742-19394712	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
6	nsv430003	chr9:19074740-19247826	Strong transcription Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv870340	chr9:19077714-19143230	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	nsv1018947	chr9:19094894-19394712	Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:19100600-19103000	Active TSS	HUES6 Cell Line	embryonic stem cell
2	chr9:19100800-19103400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr9:19100800-19103400	Active TSS	iPS-20b Cell Line	embryonic stem cell
4	chr9:19101000-19103200	Active TSS	iPS-15b Cell Line	embryonic stem cell
5	chr9:19101000-19103200	Active TSS	K562	blood
6	chr9:19101200-19102400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr9:19101200-19102400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr9:19101200-19102400	Flanking Active TSS	Duodenum Mucosa	Duodenum
9	chr9:19101200-19103400	Active TSS	HSMM	muscle
10	chr9:19101200-19103600	Active TSS	HUES48 Cell Line	embryonic stem cell
11	chr9:19101400-19102600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr9:19101400-19102600	Active TSS	HepG2	liver
13	chr9:19101400-19103000	Active TSS	H1 Cell Line	embryonic stem cell
14	chr9:19101400-19103400	Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr9:19101400-19103400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr9:19101400-19103400	Active TSS	HUES64 Cell Line	embryonic stem cell
17	chr9:19101400-19103400	Active TSS	NHLF	lung
18	chr9:19101400-19103600	Active TSS	Rectal Smooth Muscle	rectum
19	chr9:19101400-19103600	Active TSS	GM12878-XiMat	blood
20	chr9:19101400-19103800	Active TSS	Stomach Smooth Muscle	stomach
21	chr9:19101600-19103000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr9:19101600-19103000	Active TSS	Primary hematopoietic stem cells short term culture	blood
23	chr9:19101600-19103000	Active TSS	HMEC	breast
24	chr9:19101600-19103200	Active TSS	iPS-18 Cell Line	embryonic stem cell
25	chr9:19101600-19103200	Active TSS	Muscle Satellite Cultured Cells	--
26	chr9:19101600-19103200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr9:19101600-19103200	Active TSS	Dnd41	blood
28	chr9:19101600-19103200	Active TSS	Hela-S3	cervix
29	chr9:19101600-19103400	Active TSS	H9 Cell Line	embryonic stem cell
30	chr9:19101600-19103400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr9:19101600-19103400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr9:19101600-19103400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr9:19101600-19103400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
34	chr9:19101600-19103400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr9:19101600-19103400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr9:19101600-19103600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr9:19101600-19103600	Active TSS	Psoas Muscle	Psoas
38	chr9:19101600-19103600	Active TSS	Right Ventricle	heart
39	chr9:19101600-19103600	Active TSS	A549	lung
40	chr9:19101800-19102400	Flanking Active TSS	Primary T cells from cord blood	blood
41	chr9:19101800-19102400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
42	chr9:19101800-19102400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
43	chr9:19101800-19102400	Flanking Active TSS	Fetal Lung	lung
44	chr9:19101800-19102400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
45	chr9:19101800-19102400	Flanking Active TSS	Osteobl	bone
46	chr9:19101800-19102600	Flanking Active TSS	Primary hematopoietic stem cells	blood
47	chr9:19101800-19102600	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
48	chr9:19101800-19102600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
49	chr9:19101800-19102600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
50	chr9:19101800-19102800	Flanking Active TSS	Adipose Nuclei	Adipose

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