Variant report

Variant	rs543820812
Chromosome Location	chr11:34350885-34350886
allele	-/TT
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:34348938..34354072-chr11:34377839..34381430,6	MCF-7	breast:
2	chr11:34295678..34297424-chr11:34350802..34352838,2	MCF-7	breast:
3	chr11:34345030..34348316-chr11:34348388..34351447,3	K562	blood:
4	chr11:34340006..34344767-chr11:34350658..34354959,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000166016	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757435	chr11:34220504-34370236	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	esv2759816	chr11:34220504-34370236	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv818809	chr11:34239730-34354076	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	esv2753052	chr11:34247462-34358300	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv897205	chr11:34248229-34507213	Enhancers Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv897207	chr11:34253683-34621004	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
7	nsv897208	chr11:34257064-34562247	Strong transcription Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
8	nsv897209	chr11:34309519-34548906	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
9	nsv818810	chr11:34337564-34354076	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
10	esv2753225	chr11:34338342-34354865	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
11	nsv897210	chr11:34349427-34381075	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	n/a
12	nsv508622	chr11:34350559-34363184	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:34336200-34358200	Weak transcription	Thymus	Thymus
2	chr11:34339000-34357400	Weak transcription	Fetal Thymus	thymus
3	chr11:34340000-34353200	Weak transcription	Small Intestine	intestine
4	chr11:34340800-34352200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr11:34341000-34352400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr11:34341200-34352200	Weak transcription	HSMM	muscle
7	chr11:34346600-34351000	Weak transcription	Aorta	Aorta
8	chr11:34346600-34353800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr11:34347000-34355600	Weak transcription	GM12878-XiMat	blood
10	chr11:34347800-34354400	Enhancers	Fetal Stomach	stomach
11	chr11:34348000-34353200	Enhancers	Fetal Muscle Leg	muscle
12	chr11:34348400-34351200	Enhancers	Fetal Lung	lung
13	chr11:34348400-34351600	Enhancers	Right Ventricle	heart
14	chr11:34348400-34354400	Enhancers	Psoas Muscle	Psoas
15	chr11:34348600-34352800	Enhancers	Fetal Heart	heart
16	chr11:34348600-34353600	Enhancers	Colon Smooth Muscle	Colon
17	chr11:34348600-34353800	Enhancers	Rectal Smooth Muscle	rectum
18	chr11:34348800-34351200	Enhancers	Brain Germinal Matrix	brain
19	chr11:34348800-34351800	Enhancers	HepG2	liver
20	chr11:34348800-34352000	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr11:34349000-34351000	Enhancers	Brain Anterior Caudate	brain
22	chr11:34349000-34351600	Enhancers	Adipose Nuclei	Adipose
23	chr11:34349000-34352000	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr11:34349200-34351000	Enhancers	Duodenum Smooth Muscle	Duodenum
25	chr11:34349600-34352400	Weak transcription	Pancreas	Pancrea
26	chr11:34349600-34352600	Enhancers	A549	lung
27	chr11:34349800-34351200	Enhancers	Brain Cingulate Gyrus	brain
28	chr11:34349800-34351600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr11:34349800-34352200	Weak transcription	HSMMtube	muscle
30	chr11:34349800-34353200	Enhancers	Stomach Smooth Muscle	stomach
31	chr11:34349800-34353600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr11:34350000-34351000	Weak transcription	Lung	lung
33	chr11:34350200-34351200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr11:34350200-34352400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr11:34350200-34352600	Weak transcription	Brain Substantia Nigra	brain
36	chr11:34350400-34351400	Weak transcription	Liver	Liver
37	chr11:34350600-34351000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr11:34350600-34351200	Enhancers	Placenta	Placenta
39	chr11:34350600-34351800	Enhancers	Left Ventricle	heart
40	chr11:34350800-34351000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr11:34350800-34351000	Enhancers	Brain Inferior Temporal Lobe	brain
42	chr11:34350800-34351200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr11:34350800-34351200	Weak transcription	Brain Hippocampus Middle	brain
44	chr11:34350800-34351400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr11:34350800-34352000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr11:34350800-34352000	Enhancers	Right Atrium	heart
47	chr11:34350800-34352600	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr11:34350800-34356400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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