Variant report

Variant	rs73399687
Chromosome Location	chr9:6428645-6428646
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:6411987..6416661-chr9:6426661..6431000,5	K562	blood:
2	chr9:6425850..6427575-chr9:6427743..6430006,2	K562	blood:
3	chr9:6417024..6418829-chr9:6426585..6429333,3	K562	blood:

Variant related genes	Relation type
ENSG00000147854	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1156867	1.00[AMR][1000 genomes]
rs1156868	1.00[AMR][1000 genomes]
rs11998897	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12000850	1.00[AMR][1000 genomes]
rs58718382	1.00[AMR][1000 genomes]
rs6477085	1.00[AMR][1000 genomes]
rs7019218	1.00[AMR][1000 genomes]
rs7023838	1.00[AMR][1000 genomes]
rs73385832	1.00[AMR][1000 genomes]
rs73385872	1.00[AMR][1000 genomes]
rs73399089	1.00[AMR][1000 genomes]
rs73399099	1.00[AMR][1000 genomes]
rs73399673	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73399684	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73399691	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7862125	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7874062	1.00[AMR][1000 genomes]
rs7874969	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1031086	chr9:5806949-6630686	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv539967	chr9:5806949-6630686	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv933124	chr9:6099101-6644738	Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv1029000	chr9:6188652-6687205	Enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
5	nsv1031459	chr9:6216913-6657192	Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
6	nsv948562	chr9:6222553-6684955	Bivalent/Poised TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
7	nsv1032350	chr9:6328167-6630686	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
8	nsv892160	chr9:6364449-6506038	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
9	nsv892161	chr9:6364449-6523056	Enhancers Bivalent/Poised TSS Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
10	nsv831497	chr9:6377501-6612402	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:6414600-6439400	Weak transcription	Colonic Mucosa	Colon
2	chr9:6414600-6449000	Weak transcription	Gastric	stomach
3	chr9:6414600-6449200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr9:6414600-6451800	Weak transcription	Esophagus	oesophagus
5	chr9:6414600-6477800	Weak transcription	Placenta	Placenta
6	chr9:6415400-6434000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr9:6415600-6430000	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr9:6415600-6431000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr9:6415600-6441200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr9:6415600-6471400	Weak transcription	Aorta	Aorta
11	chr9:6415800-6442800	Weak transcription	Stomach Smooth Muscle	stomach
12	chr9:6416000-6438400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr9:6416400-6429800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr9:6416400-6430000	Weak transcription	Spleen	Spleen
15	chr9:6416400-6430600	Weak transcription	Right Ventricle	heart
16	chr9:6416400-6449200	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr9:6417400-6434400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr9:6417600-6430600	Weak transcription	HSMM	muscle
19	chr9:6417600-6437800	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr9:6417800-6428800	Weak transcription	K562	blood
21	chr9:6417800-6440000	Weak transcription	Fetal Brain Female	brain
22	chr9:6418000-6438200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr9:6418800-6430600	Weak transcription	Brain Hippocampus Middle	brain
24	chr9:6419000-6437000	Weak transcription	Fetal Brain Male	brain
25	chr9:6419200-6430600	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr9:6419200-6433800	Weak transcription	Brain Substantia Nigra	brain
27	chr9:6419200-6437800	Weak transcription	Brain Cingulate Gyrus	brain
28	chr9:6419400-6432200	Weak transcription	Brain Anterior Caudate	brain
29	chr9:6419400-6437400	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr9:6420000-6429800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr9:6420400-6430600	Weak transcription	Ovary	ovary
32	chr9:6420800-6428800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr9:6420800-6430400	Weak transcription	Small Intestine	intestine
34	chr9:6421000-6429200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr9:6421400-6449400	Weak transcription	Liver	Liver
36	chr9:6421800-6430200	Weak transcription	Left Ventricle	heart
37	chr9:6422200-6454000	Weak transcription	Fetal Lung	lung
38	chr9:6422800-6428800	Weak transcription	Lung	lung
39	chr9:6422800-6428800	Weak transcription	Thymus	Thymus
40	chr9:6422800-6430400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr9:6422800-6430600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr9:6422800-6434000	Weak transcription	Fetal Muscle Leg	muscle
43	chr9:6422800-6434200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr9:6422800-6446400	Weak transcription	Brain Germinal Matrix	brain
45	chr9:6422800-6449200	Weak transcription	Pancreas	Pancrea
46	chr9:6423400-6440800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr9:6423800-6434000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
48	chr9:6424800-6429000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr9:6424800-6429200	Weak transcription	Stomach Mucosa	stomach
50	chr9:6425400-6430600	Weak transcription	Adipose Nuclei	Adipose

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