Variant report

Variant	rs34172482
Chromosome Location	chr11:120278477-120278478
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	chr11:120202870..120205056-chr11:120277472..120279353,2	K562	blood:
2	chr11:120207370..120208927-chr11:120276135..120278811,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TMEM136-2	chr11:120278447-120282546	NONHSAT024726

Variant related genes	Relation type
ENSG00000196914	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12786734	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34189224	0.93[AMR][1000 genomes]
rs35734851	0.86[AMR][1000 genomes]
rs4936515	0.86[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054057	chr11:119781953-120519770	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv541178	chr11:119781953-120519770	Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv529003	chr11:120209386-120355230	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1036694	chr11:120230243-120285603	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv1037573	chr11:120230243-120286918	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1050789	chr11:120238962-120286918	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv1046430	chr11:120238962-120294026	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv1043248	chr11:120238962-120299598	Genic enhancers Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv1051672	chr11:120238962-120314178	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv1051783	chr11:120246224-120314178	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120265800-120295600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr11:120269200-120295200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr11:120269400-120283000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr11:120270400-120292200	Weak transcription	Fetal Stomach	stomach
5	chr11:120271600-120300200	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr11:120272000-120279600	Weak transcription	Duodenum Mucosa	Duodenum
7	chr11:120272000-120283000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr11:120272000-120287000	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr11:120272000-120287000	Weak transcription	Fetal Muscle Leg	muscle
10	chr11:120272000-120288400	Weak transcription	Aorta	Aorta
11	chr11:120272000-120291200	Weak transcription	Fetal Muscle Trunk	muscle
12	chr11:120272000-120291400	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr11:120272000-120302400	Weak transcription	Brain Anterior Caudate	brain
14	chr11:120272200-120279600	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr11:120272200-120283000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr11:120272200-120291400	Weak transcription	GM12878-XiMat	blood
17	chr11:120272200-120292600	Weak transcription	Stomach Smooth Muscle	stomach
18	chr11:120272200-120292800	Weak transcription	Fetal Kidney	kidney
19	chr11:120272200-120295200	Weak transcription	Brain Angular Gyrus	brain
20	chr11:120272200-120295200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr11:120272200-120299000	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr11:120272200-120315600	Weak transcription	Brain Germinal Matrix	brain
23	chr11:120272200-120315800	Weak transcription	Brain Hippocampus Middle	brain
24	chr11:120272400-120279800	Weak transcription	NHLF	lung
25	chr11:120272400-120283800	Weak transcription	Fetal Lung	lung
26	chr11:120272400-120284200	Weak transcription	Colon Smooth Muscle	Colon
27	chr11:120272400-120288600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr11:120272400-120290400	Weak transcription	Fetal Intestine Large	intestine
29	chr11:120272400-120292200	Weak transcription	Fetal Intestine Small	intestine
30	chr11:120272400-120320600	Weak transcription	Psoas Muscle	Psoas
31	chr11:120272600-120279600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr11:120272600-120283400	Weak transcription	NHDF-Ad	bronchial
33	chr11:120272600-120283800	Weak transcription	NH-A	brain
34	chr11:120272600-120288800	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr11:120272800-120278600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr11:120272800-120283800	Weak transcription	Osteobl	bone
37	chr11:120272800-120284200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr11:120273200-120281800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr11:120273400-120279400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr11:120273400-120282000	Weak transcription	HSMM	muscle
41	chr11:120273400-120284000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr11:120273600-120283800	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr11:120274200-120295600	Weak transcription	Pancreas	Pancrea
44	chr11:120274800-120280000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr11:120274800-120292400	Weak transcription	HepG2	liver
46	chr11:120274800-120294800	Weak transcription	A549	lung
47	chr11:120274800-120295200	Weak transcription	Small Intestine	intestine
48	chr11:120275000-120284000	Weak transcription	HSMMtube	muscle
49	chr11:120275200-120280000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr11:120275400-120281200	Weak transcription	NHEK	skin

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