Variant report

Variant	rs73642516
Chromosome Location	chr9:6424798-6424799
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:6411739..6416254-chr9:6422493..6426368,7	K562	blood:
2	chr9:6413061..6414947-chr9:6424688..6427649,3	MCF-7	breast:
3	chr9:6412168..6415418-chr9:6418500..6425043,7	MCF-7	breast:
4	chr9:6417900..6420636-chr9:6424327..6426106,2	K562	blood:
5	chr9:6411739..6415458-chr9:6420668..6426596,8	K562	blood:
6	chr9:6417292..6420636-chr9:6422611..6425827,4	K562	blood:

Variant related genes	Relation type
ENSG00000147854	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1156870	1.00[EUR][1000 genomes]
rs519674	1.00[EUR][1000 genomes]
rs56270454	1.00[EUR][1000 genomes]
rs58756210	1.00[EUR][1000 genomes]
rs59140789	1.00[EUR][1000 genomes]
rs73639304	1.00[EUR][1000 genomes]
rs73639305	1.00[EUR][1000 genomes]
rs73639306	1.00[EUR][1000 genomes]
rs73639308	1.00[EUR][1000 genomes]
rs73642515	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73642517	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73642519	1.00[EUR][1000 genomes]
rs73642521	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7872736	1.00[EUR][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:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:6414400-6427400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr9:6414600-6439400	Weak transcription	Colonic Mucosa	Colon
3	chr9:6414600-6449000	Weak transcription	Gastric	stomach
4	chr9:6414600-6449200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr9:6414600-6451800	Weak transcription	Esophagus	oesophagus
6	chr9:6414600-6477800	Weak transcription	Placenta	Placenta
7	chr9:6415400-6425400	Weak transcription	Psoas Muscle	Psoas
8	chr9:6415400-6434000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr9:6415600-6430000	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr9:6415600-6431000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr9:6415600-6441200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr9:6415600-6471400	Weak transcription	Aorta	Aorta
13	chr9:6415800-6442800	Weak transcription	Stomach Smooth Muscle	stomach
14	chr9:6416000-6438400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr9:6416400-6429800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr9:6416400-6430000	Weak transcription	Spleen	Spleen
17	chr9:6416400-6430600	Weak transcription	Right Ventricle	heart
18	chr9:6416400-6449200	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr9:6417400-6434400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr9:6417600-6430600	Weak transcription	HSMM	muscle
21	chr9:6417600-6437800	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr9:6417800-6425800	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr9:6417800-6426000	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr9:6417800-6428600	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr9:6417800-6428800	Weak transcription	K562	blood
26	chr9:6417800-6440000	Weak transcription	Fetal Brain Female	brain
27	chr9:6418000-6426400	Weak transcription	HSMMtube	muscle
28	chr9:6418000-6438200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr9:6418200-6427000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr9:6418200-6428600	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr9:6418800-6425800	Weak transcription	NHDF-Ad	bronchial
32	chr9:6418800-6430600	Weak transcription	Brain Hippocampus Middle	brain
33	chr9:6419000-6425400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr9:6419000-6428600	Weak transcription	Duodenum Mucosa	Duodenum
35	chr9:6419000-6437000	Weak transcription	Fetal Brain Male	brain
36	chr9:6419200-6425000	Weak transcription	Adipose Nuclei	Adipose
37	chr9:6419200-6430600	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr9:6419200-6433800	Weak transcription	Brain Substantia Nigra	brain
39	chr9:6419200-6437800	Weak transcription	Brain Cingulate Gyrus	brain
40	chr9:6419400-6425000	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr9:6419400-6425200	Weak transcription	Colon Smooth Muscle	Colon
42	chr9:6419400-6428400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr9:6419400-6428600	Weak transcription	Primary neutrophils fromperipheralblood	blood
44	chr9:6419400-6432200	Weak transcription	Brain Anterior Caudate	brain
45	chr9:6419400-6437400	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr9:6419600-6427800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr9:6420000-6426400	Strong transcription	Fetal Thymus	thymus
48	chr9:6420000-6429800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr9:6420400-6430600	Weak transcription	Ovary	ovary
50	chr9:6420800-6425000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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