Variant report

Variant	rs9470648
Chromosome Location	chr6:37593018-37593019
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:37592829..37595564-chr6:37597179..37600558,4	MCF-7	breast:
2	chr6:37467585..37469097-chr6:37592416..37594096,2	K562	blood:
3	chr6:37592843..37595910-chr6:37605648..37608604,4	K562	blood:
4	chr6:37587258..37590079-chr6:37590589..37593405,2	K562	blood:
5	chr6:37590156..37593424-chr6:37597234..37601597,4	K562	blood:
6	chr6:37591872..37593906-chr6:37631724..37634483,2	K562	blood:
7	chr6:37592329..37594327-chr6:37602082..37603969,2	MCF-7	breast:
8	chr6:37590338..37593047-chr6:37604192..37605778,2	K562	blood:
9	chr6:37536776..37539580-chr6:37592890..37596522,3	MCF-7	breast:
10	chr6:37583299..37586472-chr6:37588985..37593847,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000198937	Chromatin interaction
ENSG00000112139	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs12663898	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12665558	0.83[ASN][1000 genomes]
rs12665609	0.83[ASN][1000 genomes]
rs13199706	0.81[ASN][1000 genomes]
rs13216911	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13217481	0.81[ASN][1000 genomes]
rs13217642	0.83[ASN][1000 genomes]
rs1883898	0.83[ASN][1000 genomes]
rs34207353	0.81[ASN][1000 genomes]
rs34278717	0.81[ASN][1000 genomes]
rs34952823	0.81[ASN][1000 genomes]
rs35238957	0.81[ASN][1000 genomes]
rs66497557	0.89[ASN][1000 genomes]
rs67395334	0.89[ASN][1000 genomes]
rs72846588	0.81[ASN][1000 genomes]
rs9349049	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9366942	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9380693	0.89[ASN][1000 genomes]
rs9380694	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9394443	0.89[ASN][1000 genomes]
rs9394444	0.81[ASN][1000 genomes]
rs9637970	0.89[ASN][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	esv2752124	chr6:37416219-37680622	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
2	nsv1028825	chr6:37495154-38278320	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv1024016	chr6:37567651-37981590	Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv602955	chr6:37581200-37599962	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:37586600-37593800	Enhancers	Primary B cells from cord blood	blood
2	chr6:37589200-37593200	Enhancers	Primary T helper cells PMA-I stimulated	--
3	chr6:37590600-37593400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr6:37591000-37593400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr6:37591000-37593400	Enhancers	NHDF-Ad	bronchial
6	chr6:37591600-37593200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr6:37591600-37593600	Enhancers	NH-A	brain
8	chr6:37592000-37593200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr6:37592000-37593200	Enhancers	Fetal Brain Male	brain
10	chr6:37592000-37593600	Enhancers	Primary hematopoietic stem cells	blood
11	chr6:37592000-37593600	Enhancers	Gastric	stomach
12	chr6:37592000-37593800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
13	chr6:37592000-37593800	Enhancers	Spleen	Spleen
14	chr6:37592200-37593200	Flanking Active TSS	Hela-S3	cervix
15	chr6:37592200-37593600	Bivalent Enhancer	Placenta	Placenta
16	chr6:37592200-37593800	Bivalent Enhancer	Stomach Mucosa	stomach
17	chr6:37592400-37593200	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
18	chr6:37592400-37593200	Flanking Active TSS	A549	lung
19	chr6:37592400-37593400	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr6:37592400-37593400	Bivalent Enhancer	Colon Smooth Muscle	Colon
21	chr6:37592400-37593400	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
22	chr6:37592400-37593600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
23	chr6:37592400-37593600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
24	chr6:37592400-37593600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr6:37592400-37593600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr6:37592400-37593600	Flanking Active TSS	Brain Germinal Matrix	brain
27	chr6:37592400-37593600	Bivalent Enhancer	Fetal Lung	lung
28	chr6:37592400-37593600	Enhancers	Left Ventricle	heart
29	chr6:37592400-37593600	Enhancers	Lung	lung
30	chr6:37592400-37593600	Enhancers	Pancreas	Pancrea
31	chr6:37592400-37593600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
32	chr6:37592400-37593600	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
33	chr6:37592400-37593800	Bivalent Enhancer	Fetal Stomach	stomach
34	chr6:37592400-37594400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
35	chr6:37592600-37593200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
36	chr6:37592600-37593200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
37	chr6:37592600-37593200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr6:37592600-37593200	Flanking Active TSS	Brain Cingulate Gyrus	brain
39	chr6:37592600-37593200	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
40	chr6:37592600-37593200	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
41	chr6:37592600-37593200	Flanking Active TSS	Right Atrium	heart
42	chr6:37592600-37593200	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
43	chr6:37592600-37593200	Enhancers	HSMM	muscle
44	chr6:37592600-37593400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
45	chr6:37592600-37593400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr6:37592600-37593400	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
47	chr6:37592600-37593400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
48	chr6:37592600-37593600	Bivalent Enhancer	Fetal Intestine Small	intestine
49	chr6:37592600-37593600	Enhancers	GM12878-XiMat	blood
50	chr6:37592600-37593800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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