Variant report

Variant	rs73642521
Chromosome Location	chr9:6444328-6444329
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:6443738..6445353-chr9:6446588..6448853,2	K562	blood:

Extended variants
information (count: 25 )
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	1.00[EUR][1000 genomes]
rs73642516	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73642517	1.00[EUR][1000 genomes]
rs73642519	1.00[EUR][1000 genomes]
rs7872736	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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
11	nsv1029766	chr9:6437020-6523605	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:6414600-6449000	Weak transcription	Gastric	stomach
2	chr9:6414600-6449200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr9:6414600-6451800	Weak transcription	Esophagus	oesophagus
4	chr9:6414600-6477800	Weak transcription	Placenta	Placenta
5	chr9:6415600-6471400	Weak transcription	Aorta	Aorta
6	chr9:6416400-6449200	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr9:6421400-6449400	Weak transcription	Liver	Liver
8	chr9:6422200-6454000	Weak transcription	Fetal Lung	lung
9	chr9:6422800-6446400	Weak transcription	Brain Germinal Matrix	brain
10	chr9:6422800-6449200	Weak transcription	Pancreas	Pancrea
11	chr9:6429200-6462400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr9:6429600-6449200	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr9:6431200-6449000	Weak transcription	Duodenum Mucosa	Duodenum
14	chr9:6431200-6449200	Weak transcription	Adipose Nuclei	Adipose
15	chr9:6431600-6444400	Weak transcription	Right Ventricle	heart
16	chr9:6434400-6449200	Weak transcription	A549	lung
17	chr9:6434800-6447200	Weak transcription	Brain Anterior Caudate	brain
18	chr9:6435000-6460400	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr9:6435000-6463800	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr9:6435400-6444600	Weak transcription	Lung	lung
21	chr9:6435400-6482000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr9:6435800-6444800	Weak transcription	Fetal Intestine Large	intestine
23	chr9:6436000-6447800	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr9:6436400-6445200	Weak transcription	Thymus	Thymus
25	chr9:6436600-6449200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr9:6437000-6447400	Weak transcription	HSMM	muscle
27	chr9:6437000-6447800	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr9:6437800-6444600	Enhancers	Primary T helper cells fromperipheralblood	blood
29	chr9:6438000-6444600	Weak transcription	Fetal Intestine Small	intestine
30	chr9:6438000-6445200	Weak transcription	Fetal Muscle Leg	muscle
31	chr9:6438000-6449000	Weak transcription	Spleen	Spleen
32	chr9:6438000-6449000	Weak transcription	HMEC	breast
33	chr9:6438000-6477600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr9:6438400-6444400	Weak transcription	Primary monocytes fromperipheralblood	blood
35	chr9:6438400-6445200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr9:6438600-6445600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr9:6438600-6449000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr9:6438600-6460000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr9:6438800-6447400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr9:6438800-6447400	Weak transcription	Hela-S3	cervix
41	chr9:6438800-6449200	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr9:6439000-6447600	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr9:6439000-6449600	Weak transcription	NH-A	brain
44	chr9:6439400-6445600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr9:6439400-6447800	Weak transcription	Small Intestine	intestine
46	chr9:6439600-6444600	Enhancers	Colon Smooth Muscle	Colon
47	chr9:6439600-6445200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr9:6439600-6447200	Weak transcription	Primary T cells from cord blood	blood
49	chr9:6439600-6449200	Weak transcription	K562	blood
50	chr9:6439800-6449000	Weak transcription	Brain Substantia Nigra	brain

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