Variant report

Variant	rs11605358
Chromosome Location	chr11:9153522-9153523
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:9151966..9154190-chr11:9155190..9157192,2	K562	blood:
2	chr11:9110959..9114784-chr11:9149976..9153737,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000175356	Chromatin interaction
ENSG00000264984	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs11042242	0.85[CEU][hapmap]
rs11042260	1.00[CEU][hapmap];1.00[AFR][1000 genomes]
rs11042282	1.00[CEU][hapmap];1.00[AFR][1000 genomes]
rs1136330	1.00[AFR][1000 genomes]
rs11600093	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11600994	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs11601190	0.83[EUR][1000 genomes]
rs11601229	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs11601789	1.00[AFR][1000 genomes]
rs11604054	0.96[EUR][1000 genomes]
rs11604121	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11604198	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs11604607	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs11605674	1.00[AFR][1000 genomes]
rs11606260	0.88[EUR][1000 genomes]
rs11606740	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs11606969	0.83[EUR][1000 genomes]
rs11607790	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11608223	1.00[AFR][1000 genomes]
rs16906708	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs16914802	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs36005639	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4910036	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs4910038	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs4910441	0.88[CEU][hapmap]
rs4910449	1.00[AFR][1000 genomes]
rs4910450	1.00[CEU][hapmap];1.00[AFR][1000 genomes]
rs55640358	1.00[AFR][1000 genomes]
rs55723890	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs55741313	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs55980718	0.89[EUR][1000 genomes]
rs55989000	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs55994936	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56002897	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56065481	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56081129	1.00[AFR][1000 genomes]
rs56292930	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7394938	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs7395168	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs7395453	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7395754	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs7396336	0.86[EUR][1000 genomes]
rs7396512	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs956516	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs11605358	TMEM41B	cis	frontal cortex	BrainEAC
rs11605358	TMEM41B	cis	brain	BrainEAC
rs11605358	TMEM41B	cis	cerebellar cortex	BrainEAC
rs11605358	TMEM41B	cis	occipital cortex	BrainEAC

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9113600-9159800	Weak transcription	Right Ventricle	heart
2	chr11:9121800-9154800	Weak transcription	Brain Substantia Nigra	brain
3	chr11:9130800-9153600	Weak transcription	Brain Angular Gyrus	brain
4	chr11:9134000-9154000	Weak transcription	Osteobl	bone
5	chr11:9134200-9154000	Weak transcription	NHDF-Ad	bronchial
6	chr11:9134800-9159000	Weak transcription	Brain Hippocampus Middle	brain
7	chr11:9134800-9161200	Weak transcription	Fetal Brain Male	brain
8	chr11:9136400-9159200	Weak transcription	Brain Anterior Caudate	brain
9	chr11:9137200-9159000	Weak transcription	Fetal Heart	heart
10	chr11:9141400-9153600	Weak transcription	Primary T cells from cord blood	blood
11	chr11:9141400-9153800	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr11:9141600-9158400	Weak transcription	Pancreas	Pancrea
13	chr11:9142000-9157200	Weak transcription	NHLF	lung
14	chr11:9142400-9163000	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr11:9142600-9159000	Weak transcription	Adipose Nuclei	Adipose
16	chr11:9142600-9159200	Weak transcription	Duodenum Mucosa	Duodenum
17	chr11:9142600-9175000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr11:9143000-9154400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr11:9143000-9155000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr11:9143400-9159200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr11:9143400-9161200	Weak transcription	Aorta	Aorta
22	chr11:9143600-9159000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr11:9143800-9158800	Weak transcription	Fetal Brain Female	brain
24	chr11:9144400-9161200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr11:9145400-9156800	Weak transcription	Placenta	Placenta
26	chr11:9146000-9157400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr11:9146400-9154800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr11:9146400-9158400	Weak transcription	Gastric	stomach
29	chr11:9146400-9159200	Weak transcription	K562	blood
30	chr11:9146600-9158800	Weak transcription	Lung	lung
31	chr11:9147000-9158800	Weak transcription	A549	lung
32	chr11:9148400-9158400	Weak transcription	GM12878-XiMat	blood
33	chr11:9148400-9159000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr11:9148400-9159000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr11:9148400-9159200	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr11:9148600-9159000	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr11:9148800-9158000	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr11:9148800-9159000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr11:9149000-9158800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr11:9149400-9157800	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr11:9149800-9157400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr11:9150200-9153800	Strong transcription	HSMM	muscle
43	chr11:9150400-9153800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr11:9150600-9160000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr11:9151400-9155600	Weak transcription	Brain Cingulate Gyrus	brain
46	chr11:9151600-9158400	Weak transcription	HSMMtube	muscle
47	chr11:9151800-9153600	Weak transcription	Primary B cells from cord blood	blood
48	chr11:9151800-9153600	Enhancers	Psoas Muscle	Psoas
49	chr11:9151800-9155600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr11:9151800-9159000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland

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