Variant report

Variant	rs34493639
Chromosome Location	chr9:115937405-115937406
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:115912871..115915332-chr9:115935674..115937488,2	K562	blood:
2	chr9:115935268..115937947-chr9:115939386..115941079,2	K562	blood:
3	chr9:115935810..115938271-chr9:115941276..115943911,2	K562	blood:

Variant related genes	Relation type
ENSG00000136867	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10817452	0.85[AFR][1000 genomes]
rs10817453	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10817456	0.87[AFR][1000 genomes]
rs10817458	0.90[AFR][1000 genomes]
rs10981666	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10981669	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10981670	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10981671	0.92[AFR][1000 genomes]
rs3810906	0.80[AFR][1000 genomes]
rs3810909	0.81[AFR][1000 genomes]
rs3810911	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3827673	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4596714	0.90[AFR][1000 genomes]
rs6477995	0.87[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758198	chr9:115240454-116002951	Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	esv2759710	chr9:115240454-116002951	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv530949	chr9:115821128-116487796	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
4	nsv1035406	chr9:115883978-116003980	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv540201	chr9:115883978-116003980	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	nsv1042663	chr9:115920158-116167140	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
7	nsv893744	chr9:115934852-116170227	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
8	esv2647679	chr9:115936465-115937963	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	esv2238231	chr9:115936894-115937590	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	esv3482740	chr9:115936962-115937477	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	esv7708	chr9:115936972-115937517	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	esv3518482	chr9:115936985-115937491	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	esv3518478	chr9:115937000-115937515	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	esv3518479	chr9:115937011-115937416	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	esv3482738	chr9:115937019-115937452	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
16	esv3482739	chr9:115937026-115937447	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
17	esv3518481	chr9:115937031-115937434	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
18	esv3482742	chr9:115937034-115937407	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
19	esv3518477	chr9:115937041-115937434	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
20	esv4206	chr9:115937047-115937505	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:115917800-115949400	Strong transcription	Placenta	Placenta
2	chr9:115918400-115947200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr9:115919200-115950800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr9:115919400-115950800	Strong transcription	Primary T cells from cord blood	blood
5	chr9:115919400-115954200	Strong transcription	Fetal Intestine Large	intestine
6	chr9:115919600-115938000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
7	chr9:115919600-115938800	Strong transcription	Primary neutrophils fromperipheralblood	blood
8	chr9:115919600-115940200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr9:115919800-115939400	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr9:115920000-115939000	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr9:115920000-115942400	Strong transcription	Duodenum Mucosa	Duodenum
12	chr9:115920000-115950200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
13	chr9:115920000-115951400	Strong transcription	Fetal Muscle Trunk	muscle
14	chr9:115920000-115970200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr9:115920000-115973400	Strong transcription	Rectal Mucosa Donor 29	rectum
16	chr9:115920200-115956600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr9:115920400-115973400	Strong transcription	Primary T helper cells fromperipheralblood	blood
18	chr9:115920600-115941600	Strong transcription	Rectal Mucosa Donor 31	rectum
19	chr9:115920800-115966400	Strong transcription	Dnd41	blood
20	chr9:115920800-115975000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr9:115921000-115937800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr9:115921800-115951000	Strong transcription	Fetal Thymus	thymus
23	chr9:115922400-115942000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr9:115922800-115956400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr9:115923000-115942200	Strong transcription	GM12878-XiMat	blood
26	chr9:115923000-115956200	Strong transcription	Primary T helper cells PMA-I stimulated	--
27	chr9:115923200-115940800	Strong transcription	NHEK	skin
28	chr9:115923400-115941800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr9:115923400-115976400	Strong transcription	Primary T cells fromperipheralblood	blood
30	chr9:115923600-115953600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr9:115923800-115950600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr9:115923800-115951600	Strong transcription	HepG2	liver
33	chr9:115924000-115965800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr9:115924200-115969600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr9:115925200-115940800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
36	chr9:115926000-115956200	Strong transcription	HUES64 Cell Line	embryonic stem cell
37	chr9:115926400-115941200	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr9:115926600-115951000	Strong transcription	HUES48 Cell Line	embryonic stem cell
39	chr9:115927200-115953600	Strong transcription	Fetal Lung	lung
40	chr9:115927600-115940000	Strong transcription	NH-A	brain
41	chr9:115927600-115940000	Strong transcription	NHDF-Ad	bronchial
42	chr9:115927600-115940400	Strong transcription	HSMM	muscle
43	chr9:115927600-115941200	Strong transcription	Cortex derived primary cultured neurospheres	brain
44	chr9:115927600-115949400	Strong transcription	Adipose Nuclei	Adipose
45	chr9:115927600-115973400	Strong transcription	Skeletal Muscle Female	skeletal muscle
46	chr9:115927800-115939600	Weak transcription	Fetal Heart	heart
47	chr9:115927800-115940000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr9:115927800-115940000	Strong transcription	Osteobl	bone
49	chr9:115927800-115940200	Strong transcription	Muscle Satellite Cultured Cells	--
50	chr9:115927800-115951000	Strong transcription	Duodenum Smooth Muscle	Duodenum

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