Variant report

Variant	rs73081336
Chromosome Location	chr7:17869854-17869855
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:17863336..17865666-chr7:17868902..17871409,2	K562	blood:
2	chr7:17868673..17871500-chr7:17873119..17875470,2	K562	blood:
3	chr7:17864166..17867586-chr7:17869183..17871409,4	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12531993	0.81[EUR][1000 genomes]
rs12539189	0.82[ASN][1000 genomes]
rs56391843	0.82[ASN][1000 genomes]
rs6964565	0.82[ASN][1000 genomes]
rs73069242	0.84[EUR][1000 genomes]
rs73079312	0.82[ASN][1000 genomes]
rs73079341	0.82[ASN][1000 genomes]
rs73081381	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73081401	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869352	chr7:17237983-17932878	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv1021524	chr7:17251148-17963307	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1021289	chr7:17254117-17873816	Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv538754	chr7:17254117-17873816	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	nsv534309	chr7:17254118-17932878	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats 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	23 gene(s)	inside rSNPs	diseases
6	nsv533938	chr7:17254118-18040301	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
7	nsv887804	chr7:17571140-17885468	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv1024398	chr7:17630148-18545073	Strong transcription Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
9	nsv538764	chr7:17630148-18545073	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
10	esv1802979	chr7:17816528-17908546	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv830913	chr7:17848480-18034218	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
12	esv1792752	chr7:17853983-17908546	Strong transcription ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	nsv1026629	chr7:17862477-18362404	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
14	nsv1025023	chr7:17865796-18357630	Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:17812600-17887600	Weak transcription	Gastric	stomach
2	chr7:17813600-17879200	Weak transcription	HSMMtube	muscle
3	chr7:17817400-17887600	Weak transcription	Pancreas	Pancrea
4	chr7:17823600-17887600	Weak transcription	Brain Cingulate Gyrus	brain
5	chr7:17825800-17887600	Weak transcription	Colonic Mucosa	Colon
6	chr7:17827400-17877600	Weak transcription	Small Intestine	intestine
7	chr7:17832000-17880600	Weak transcription	GM12878-XiMat	blood
8	chr7:17834000-17887800	Weak transcription	Right Ventricle	heart
9	chr7:17834200-17879400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr7:17834800-17888800	Weak transcription	Brain Substantia Nigra	brain
11	chr7:17838800-17887600	Weak transcription	Rectal Smooth Muscle	rectum
12	chr7:17839000-17932600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr7:17841200-17883800	Weak transcription	HMEC	breast
14	chr7:17841200-17902600	Weak transcription	Brain Anterior Caudate	brain
15	chr7:17841600-17879400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr7:17843200-17881800	Weak transcription	A549	lung
17	chr7:17843400-17879200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr7:17846000-17900600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr7:17847400-17879000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr7:17847400-17880600	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr7:17847400-17887600	Weak transcription	Ovary	ovary
22	chr7:17847400-17887600	Weak transcription	Spleen	Spleen
23	chr7:17847600-17887600	Weak transcription	Fetal Stomach	stomach
24	chr7:17852600-17879200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr7:17852600-17887800	Weak transcription	Brain Hippocampus Middle	brain
26	chr7:17852600-17896000	Weak transcription	Fetal Kidney	kidney
27	chr7:17852600-17902800	Weak transcription	Colon Smooth Muscle	Colon
28	chr7:17852800-17880600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr7:17852800-17887000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr7:17852800-17890200	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr7:17852800-17895000	Weak transcription	Brain Germinal Matrix	brain
32	chr7:17853000-17880400	Weak transcription	Thymus	Thymus
33	chr7:17853400-17884200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr7:17853400-17887600	Weak transcription	Aorta	Aorta
35	chr7:17853600-17887400	Weak transcription	Left Ventricle	heart
36	chr7:17853600-17888000	Weak transcription	Stomach Smooth Muscle	stomach
37	chr7:17853800-17872600	Weak transcription	Fetal Thymus	thymus
38	chr7:17853800-17914000	Weak transcription	Hela-S3	cervix
39	chr7:17854000-17874600	Weak transcription	Dnd41	blood
40	chr7:17854000-17877200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr7:17854000-17877800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr7:17854000-17884000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr7:17854000-17887800	Weak transcription	Fetal Muscle Trunk	muscle
44	chr7:17854000-17900800	Weak transcription	K562	blood
45	chr7:17854400-17872400	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr7:17854400-17879200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr7:17854600-17878400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr7:17854600-17879000	Weak transcription	Primary hematopoietic stem cells	blood
49	chr7:17855200-17880400	Weak transcription	Lung	lung
50	chr7:17855200-17880600	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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