Variant report

Variant	rs41270135
Chromosome Location	chr9:21334998-21334999
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	chr12:10875091..10875955-chr9:21334907..21335831,2	NB4	blood:
2	chr9:21334810..21337205-chr9:21800546..21802816,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000099810	Chromatin interaction
ENSG00000060138	Chromatin interaction
ENSG00000264545	Chromatin interaction

Extended variants
information (count: 92 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:90)

rs_ID	r²[population]
rs10114175	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11999696	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12000461	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12002231	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12336789	0.97[EUR][1000 genomes]
rs12340718	0.97[EUR][1000 genomes]
rs17334047	0.97[EUR][1000 genomes]
rs17334054	0.85[AMR][1000 genomes]
rs17334061	0.85[AMR][1000 genomes]
rs28383773	0.85[AMR][1000 genomes]
rs28383780	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs28383791	0.85[AMR][1000 genomes]
rs28383792	0.85[AMR][1000 genomes]
rs35000944	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35101870	0.97[EUR][1000 genomes]
rs35353365	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs41270127	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41270129	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41270131	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41270133	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6475532	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7029860	0.85[AMR][1000 genomes]
rs7037805	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72691656	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72691682	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72691685	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72691698	0.82[EUR][1000 genomes]
rs72691699	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72691700	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72691701	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72691917	0.85[AMR][1000 genomes]
rs72691933	0.85[AMR][1000 genomes]
rs72691934	0.85[AMR][1000 genomes]
rs72691936	0.85[AMR][1000 genomes]
rs72691937	0.85[AMR][1000 genomes]
rs72691939	0.84[EUR][1000 genomes]
rs72691942	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72691948	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72693703	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72693705	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72695780	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72695784	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72695785	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72695788	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72695795	0.94[EUR][1000 genomes]
rs72695797	0.94[EUR][1000 genomes]
rs72695798	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72695801	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72697305	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72697307	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72697311	1.00[EUR][1000 genomes]
rs72697312	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72697313	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72697314	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72697315	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72697317	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72697321	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72697322	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72697324	0.97[EUR][1000 genomes]
rs72697326	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72697327	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72699197	0.97[EUR][1000 genomes]
rs72699198	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72699199	0.97[EUR][1000 genomes]
rs72699200	0.97[EUR][1000 genomes]
rs72699201	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72699202	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72701303	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72701305	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72701306	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72701307	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72701308	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72701309	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72701311	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72701312	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72701313	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72701314	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72701315	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72701316	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72701317	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72701318	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72701319	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72701320	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72701321	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72701345	0.85[AMR][1000 genomes]
rs72701355	0.85[AMR][1000 genomes]
rs7862030	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7863385	1.00[EUR][1000 genomes]
rs7865334	0.94[EUR][1000 genomes]
rs9333356	0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv892724	chr9:20690244-21517302	Genic enhancers Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	153 gene(s)	inside rSNPs	diseases
2	nsv892736	chr9:21327141-21391698	Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs41270135	KLHL9	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:21333000-21336000	Active TSS	iPS-15b Cell Line	embryonic stem cell
2	chr9:21333400-21335000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
3	chr9:21333600-21335800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr9:21333600-21335800	Active TSS	Colonic Mucosa	Colon
5	chr9:21333800-21335000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
6	chr9:21333800-21335000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr9:21333800-21335800	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr9:21333800-21335800	Active TSS	Lung	lung
9	chr9:21333800-21335800	Active TSS	NHLF	lung
10	chr9:21334000-21335000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
11	chr9:21334000-21335000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr9:21334000-21335200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
13	chr9:21334000-21335600	Active TSS	HUES64 Cell Line	embryonic stem cell
14	chr9:21334000-21335800	Active TSS	H1 Cell Line	embryonic stem cell
15	chr9:21334000-21335800	Active TSS	H9 Cell Line	embryonic stem cell
16	chr9:21334000-21335800	Active TSS	Right Ventricle	heart
17	chr9:21334200-21335000	Flanking Active TSS	Primary B cells from cord blood	blood
18	chr9:21334200-21335200	Flanking Active TSS	Primary hematopoietic stem cells	blood
19	chr9:21334200-21335600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr9:21334200-21335600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
21	chr9:21334200-21335600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr9:21334200-21335600	Active TSS	HSMM	muscle
23	chr9:21334200-21335800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr9:21334200-21335800	Active TSS	Muscle Satellite Cultured Cells	--
25	chr9:21334200-21335800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr9:21334200-21335800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr9:21334200-21335800	Active TSS	Aorta	Aorta
28	chr9:21334200-21335800	Active TSS	Duodenum Smooth Muscle	Duodenum
29	chr9:21334200-21335800	Active TSS	Fetal Intestine Small	intestine
30	chr9:21334200-21335800	Active TSS	Fetal Muscle Trunk	muscle
31	chr9:21334200-21335800	Active TSS	Fetal Muscle Leg	muscle
32	chr9:21334200-21335800	Active TSS	Placenta	Placenta
33	chr9:21334200-21335800	Active TSS	Left Ventricle	heart
34	chr9:21334200-21335800	Active TSS	Ovary	ovary
35	chr9:21334200-21335800	Active TSS	Placenta Amnion	Placenta Amnion
36	chr9:21334200-21335800	Active TSS	Psoas Muscle	Psoas
37	chr9:21334200-21335800	Active TSS	Right Atrium	heart
38	chr9:21334200-21335800	Active TSS	A549	lung
39	chr9:21334200-21335800	Active TSS	HSMMtube	muscle
40	chr9:21334200-21336000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr9:21334200-21336000	Active TSS	HUES48 Cell Line	embryonic stem cell
42	chr9:21334200-21336000	Active TSS	Breast Myoepithelial Primary Cells	Breast
43	chr9:21334200-21336000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr9:21334200-21336000	Active TSS	Colon Smooth Muscle	Colon
45	chr9:21334200-21336000	Active TSS	Fetal Intestine Large	intestine
46	chr9:21334200-21336000	Active TSS	Fetal Kidney	kidney
47	chr9:21334200-21336000	Active TSS	Pancreatic Islets	Pancreatic Islet
48	chr9:21334200-21336000	Active TSS	Fetal Lung	lung
49	chr9:21334200-21336000	Active TSS	Stomach Smooth Muscle	stomach
50	chr9:21334200-21336000	Active TSS	NHDF-Ad	bronchial

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