Variant report

Variant	rs56135790
Chromosome Location	chr11:9212958-9212959
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11601190	0.84[AFR][1000 genomes]
rs11606969	0.84[AFR][1000 genomes]
rs73402339	0.83[AFR][1000 genomes]
rs73402346	0.85[AFR][1000 genomes]
rs73402352	0.86[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3413845	chr11:8887279-9285127	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	esv33264	chr11:9007612-9311131	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1040049	chr11:9152536-9363488	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv916534	chr11:9188436-9516241	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
5	nsv1053045	chr11:9208881-9363488	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
6	nsv540947	chr11:9208881-9363488	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs56135790	TMEM41B	cis	brain	BrainEAC

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9162000-9230600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:9169600-9238000	Weak transcription	Esophagus	oesophagus
3	chr11:9171800-9230200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr11:9172000-9230400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr11:9174000-9225800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr11:9182400-9225000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr11:9182400-9231800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr11:9184200-9216800	Strong transcription	Primary neutrophils fromperipheralblood	blood
9	chr11:9186800-9215800	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr11:9198400-9224600	Weak transcription	Rectal Smooth Muscle	rectum
11	chr11:9199800-9230400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr11:9200000-9225200	Weak transcription	Thymus	Thymus
13	chr11:9200200-9224800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr11:9200400-9216600	Weak transcription	Fetal Brain Male	brain
15	chr11:9200400-9223600	Weak transcription	Primary B cells from peripheral blood	blood
16	chr11:9200400-9224200	Weak transcription	Duodenum Mucosa	Duodenum
17	chr11:9200600-9214400	Weak transcription	K562	blood
18	chr11:9200600-9224800	Weak transcription	Lung	lung
19	chr11:9200600-9224800	Weak transcription	Psoas Muscle	Psoas
20	chr11:9200600-9229000	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr11:9200600-9230400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr11:9201000-9230800	Weak transcription	HMEC	breast
23	chr11:9202400-9214400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr11:9202400-9224600	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr11:9202400-9225000	Weak transcription	NHEK	skin
26	chr11:9202600-9224200	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr11:9202600-9225000	Weak transcription	Aorta	Aorta
28	chr11:9202600-9251200	Weak transcription	Small Intestine	intestine
29	chr11:9202800-9213400	Weak transcription	Hela-S3	cervix
30	chr11:9202800-9224200	Weak transcription	Pancreas	Pancrea
31	chr11:9202800-9224800	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr11:9203000-9213600	Weak transcription	NH-A	brain
33	chr11:9203000-9219800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr11:9203000-9224800	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr11:9203200-9214800	Weak transcription	HepG2	liver
36	chr11:9203200-9224200	Weak transcription	NHLF	lung
37	chr11:9203200-9225000	Weak transcription	Right Ventricle	heart
38	chr11:9203200-9227200	Weak transcription	Right Atrium	heart
39	chr11:9203600-9225200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr11:9203800-9214400	Weak transcription	Left Ventricle	heart
41	chr11:9205400-9214600	Weak transcription	HUVEC	blood vessel
42	chr11:9207000-9213400	Strong transcription	Primary T cells from cord blood	blood
43	chr11:9207400-9214600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr11:9207400-9225200	Weak transcription	Gastric	stomach
45	chr11:9207600-9214800	Weak transcription	Fetal Heart	heart
46	chr11:9208000-9216000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr11:9208000-9219200	Strong transcription	Fetal Muscle Trunk	muscle
48	chr11:9208200-9215800	Strong transcription	Fetal Stomach	stomach
49	chr11:9208400-9213600	Strong transcription	Fetal Muscle Leg	muscle
50	chr11:9208600-9213800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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