Variant report

Variant	rs12422111
Chromosome Location	chr11:9613447-9613448
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:9548599..9552302-chr11:9610096..9614093,4	K562	blood:
2	chr11:9607435..9608967-chr11:9612770..9614781,2	MCF-7	breast:
3	chr11:9549697..9552302-chr11:9612422..9614093,2	K562	blood:

Variant related genes	Relation type
ENSG00000166483	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11042430	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11042433	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11042436	0.81[AMR][1000 genomes]
rs11042438	0.81[AMR][1000 genomes]
rs11042439	0.95[GIH][hapmap];0.88[MEX][hapmap];0.81[AMR][1000 genomes]
rs11042440	0.95[GIH][hapmap];0.88[MEX][hapmap];0.81[MKK][hapmap];0.81[AMR][1000 genomes]
rs11042441	0.95[GIH][hapmap];0.88[MEX][hapmap];0.81[MKK][hapmap]
rs11042442	0.81[AMR][1000 genomes]
rs11042444	0.81[AMR][1000 genomes]
rs12416887	1.00[CEU][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12419221	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12807017	0.81[GIH][hapmap]
rs35042828	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs35084800	0.81[AMR][1000 genomes]
rs35198914	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs36084509	0.81[AMR][1000 genomes]
rs4910480	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61876835	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7120616	0.81[AMR][1000 genomes]
rs7928738	0.81[GIH][hapmap]

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	nsv427882	chr11:9431600-9626580	Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
2	nsv553467	chr11:9518551-9648721	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs12422111	TMEM41B	cis	parietal	SCAN
rs12422111	ZNF214	cis	cerebellum	SCAN
rs12422111	HPX	cis	cerebellum	SCAN
rs12422111	DKK3	cis	cerebellum	SCAN

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9597000-9622000	Weak transcription	Spleen	Spleen
2	chr11:9597200-9635000	Weak transcription	Pancreas	Pancrea
3	chr11:9597600-9615200	Weak transcription	Brain Hippocampus Middle	brain
4	chr11:9599600-9622800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr11:9599800-9617000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr11:9599800-9622400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr11:9601400-9622600	Weak transcription	Right Atrium	heart
8	chr11:9601600-9622200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr11:9605000-9618200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr11:9606000-9614200	Weak transcription	Stomach Mucosa	stomach
11	chr11:9607000-9622400	Weak transcription	Small Intestine	intestine
12	chr11:9607800-9622600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr11:9610200-9622600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr11:9610600-9614600	Weak transcription	Psoas Muscle	Psoas
15	chr11:9610600-9615800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr11:9610600-9617400	Weak transcription	Rectal Smooth Muscle	rectum
17	chr11:9610600-9621800	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr11:9610600-9622200	Weak transcription	Primary T cells from cord blood	blood
19	chr11:9610600-9622200	Weak transcription	Lung	lung
20	chr11:9610600-9622600	Weak transcription	Colonic Mucosa	Colon
21	chr11:9610600-9622600	Weak transcription	Esophagus	oesophagus
22	chr11:9610600-9622600	Weak transcription	Thymus	Thymus
23	chr11:9610600-9622800	Weak transcription	Right Ventricle	heart
24	chr11:9610600-9627200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr11:9610600-9635000	Weak transcription	Aorta	Aorta
26	chr11:9610800-9613600	Weak transcription	Colon Smooth Muscle	Colon
27	chr11:9610800-9613800	Weak transcription	Fetal Brain Male	brain
28	chr11:9610800-9613800	Weak transcription	HSMMtube	muscle
29	chr11:9610800-9615800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr11:9610800-9616400	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr11:9610800-9616600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr11:9610800-9622200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr11:9610800-9622200	Weak transcription	Adipose Nuclei	Adipose
34	chr11:9610800-9622600	Weak transcription	Brain Germinal Matrix	brain
35	chr11:9610800-9622600	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr11:9611000-9613600	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr11:9611000-9616200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr11:9611000-9622000	Weak transcription	NHEK	skin
39	chr11:9611000-9622200	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr11:9611000-9622600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr11:9611200-9614800	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr11:9611200-9615800	Weak transcription	A549	lung
43	chr11:9611200-9616000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr11:9611200-9621800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr11:9611200-9622600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr11:9611200-9622600	Weak transcription	K562	blood
47	chr11:9611200-9622800	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr11:9611400-9615800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr11:9611400-9615800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr11:9611400-9616000	Weak transcription	Primary B cells from peripheral blood	blood

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