Variant report

Variant	rs59646983
Chromosome Location	chr9:71420190-71420191
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:73158387..73161479-chr9:71419682..71422682,3	K562	blood:
2	chr11:62607625..62610617-chr9:71419682..71421202,4	K562	blood:
3	chr17:41398972..41401127-chr9:71419682..71422702,5	K562	blood:
4	chr3:73159932..73161523-chr9:71419682..71421202,3	K562	blood:
5	chr17:41463871..41465691-chr9:71419702..71421202,3	K562	blood:
6	chr17:41464187..41466151-chr9:71419682..71421202,4	K562	blood:

Variant related genes	Relation type
ENSG00000133316	Chromatin interaction
ENSG00000223247	Chromatin interaction
ENSG00000188825	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10869147	1.00[EUR][1000 genomes]
rs1107109	1.00[EUR][1000 genomes]
rs12001744	1.00[EUR][1000 genomes]
rs12002970	1.00[EUR][1000 genomes]
rs12003362	1.00[EUR][1000 genomes]
rs12004348	1.00[EUR][1000 genomes]
rs12340677	1.00[EUR][1000 genomes]
rs17052441	1.00[EUR][1000 genomes]
rs17057813	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17058128	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2065388	1.00[EUR][1000 genomes]
rs55931741	1.00[EUR][1000 genomes]
rs56017605	1.00[EUR][1000 genomes]
rs56173513	1.00[EUR][1000 genomes]
rs56822677	1.00[EUR][1000 genomes]
rs56885985	1.00[EUR][1000 genomes]
rs57085507	1.00[EUR][1000 genomes]
rs57105289	1.00[EUR][1000 genomes]
rs57442310	1.00[EUR][1000 genomes]
rs58120494	1.00[EUR][1000 genomes]
rs58282494	1.00[EUR][1000 genomes]
rs58870473	1.00[EUR][1000 genomes]
rs60175722	1.00[EUR][1000 genomes]
rs60300145	1.00[EUR][1000 genomes]
rs60809779	1.00[EUR][1000 genomes]
rs6560256	1.00[EUR][1000 genomes]
rs7021335	1.00[EUR][1000 genomes]
rs7048378	1.00[EUR][1000 genomes]
rs73646709	1.00[EUR][1000 genomes]
rs73646710	1.00[EUR][1000 genomes]
rs73646711	1.00[EUR][1000 genomes]
rs73646712	1.00[EUR][1000 genomes]
rs73646713	1.00[EUR][1000 genomes]
rs73646714	1.00[EUR][1000 genomes]
rs73646754	1.00[EUR][1000 genomes]
rs73646755	1.00[EUR][1000 genomes]
rs73646756	1.00[EUR][1000 genomes]
rs73646758	1.00[EUR][1000 genomes]
rs73646775	1.00[EUR][1000 genomes]
rs7866754	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032210	chr9:71130848-71511987	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	esv2422258	chr9:71234845-71663340	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv1017903	chr9:71276951-71690579	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv1051723	chr9:71398713-71971285	Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv1053402	chr9:71399722-71819949	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
6	nsv540146	chr9:71399722-71819949	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
7	nsv1043689	chr9:71399922-71800338	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
8	nsv540147	chr9:71399922-71800338	Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
9	nsv1047540	chr9:71401918-71803639	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
10	nsv1050741	chr9:71405224-71450033	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv540148	chr9:71405224-71450033	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
12	nsv931684	chr9:71417110-71957723	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
13	nsv1049175	chr9:71418242-71986910	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh 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	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:71399000-71420200	Weak transcription	Fetal Stomach	stomach
2	chr9:71404600-71431400	Weak transcription	HepG2	liver
3	chr9:71409200-71421000	Weak transcription	Placenta	Placenta
4	chr9:71410200-71428600	Weak transcription	Aorta	Aorta
5	chr9:71410400-71420200	Weak transcription	Stomach Mucosa	stomach
6	chr9:71414000-71420200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr9:71414000-71437000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr9:71414000-71445000	Weak transcription	Primary hematopoietic stem cells	blood
9	chr9:71416600-71422000	Enhancers	Primary B cells from peripheral blood	blood
10	chr9:71417400-71420400	Enhancers	Fetal Heart	heart
11	chr9:71417400-71420400	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr9:71417400-71421800	Enhancers	Right Ventricle	heart
13	chr9:71417400-71423600	Enhancers	Left Ventricle	heart
14	chr9:71418600-71420200	Weak transcription	Duodenum Mucosa	Duodenum
15	chr9:71418600-71421400	Weak transcription	Colonic Mucosa	Colon
16	chr9:71418600-71444800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr9:71418800-71420400	Strong transcription	Fetal Intestine Large	intestine
18	chr9:71418800-71420600	Strong transcription	Fetal Intestine Small	intestine
19	chr9:71419600-71420800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr9:71419600-71421000	Enhancers	Brain Germinal Matrix	brain
21	chr9:71419600-71421800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr9:71419600-71422200	Genic enhancers	Primary B cells from cord blood	blood
23	chr9:71419800-71420200	Enhancers	Colon Smooth Muscle	Colon
24	chr9:71419800-71420200	Genic enhancers	Sigmoid Colon	Sigmoid Colon
25	chr9:71419800-71420600	Enhancers	Spleen	Spleen
26	chr9:71419800-71420600	Genic enhancers	GM12878-XiMat	blood
27	chr9:71419800-71420800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
28	chr9:71419800-71421600	Enhancers	Gastric	stomach
29	chr9:71419800-71421800	Enhancers	Fetal Muscle Leg	muscle
30	chr9:71419800-71421800	Enhancers	Pancreas	Pancrea
31	chr9:71419800-71422200	Enhancers	Rectal Smooth Muscle	rectum
32	chr9:71420000-71420600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
33	chr9:71420000-71420800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr9:71420000-71421000	Strong transcription	Rectal Mucosa Donor 31	rectum
35	chr9:71420000-71421400	Enhancers	Lung	lung
36	chr9:71420000-71421600	Enhancers	Right Atrium	heart

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