Variant report

Variant	rs546333620
Chromosome Location	chr2:11395070-11395071
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	chr2:11394169..11396145-chr2:11484229..11486145,2	MCF-7	breast:
2	chr2:11394019..11396921-chr2:11397879..11400612,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000134318	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3395022	chr2:11316915-11426380	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	nsv1013570	chr2:11321519-11405246	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv526038	chr2:11369078-11489531	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	nsv2607	chr2:11381341-11409932	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	esv1827245	chr2:11385834-11442583	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv436304	chr2:11394989-11401393	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	esv16727	chr2:11395030-11400620	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11296200-11412600	Weak transcription	Aorta	Aorta
2	chr2:11310600-11433000	Weak transcription	Pancreas	Pancrea
3	chr2:11352600-11411200	Weak transcription	Thymus	Thymus
4	chr2:11352800-11424000	Weak transcription	HSMMtube	muscle
5	chr2:11354600-11423800	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr2:11360400-11396400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr2:11361000-11397000	Weak transcription	Fetal Muscle Trunk	muscle
8	chr2:11361000-11397400	Weak transcription	Left Ventricle	heart
9	chr2:11361000-11399200	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr2:11361000-11400200	Weak transcription	Gastric	stomach
11	chr2:11361000-11410800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr2:11361000-11411200	Weak transcription	Fetal Thymus	thymus
13	chr2:11361000-11416600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr2:11361200-11425600	Weak transcription	Stomach Smooth Muscle	stomach
15	chr2:11361600-11396800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr2:11364400-11423800	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr2:11364800-11397400	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr2:11366400-11396800	Weak transcription	Fetal Muscle Leg	muscle
19	chr2:11372600-11397200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr2:11372600-11423800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr2:11376200-11410800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr2:11376800-11399000	Weak transcription	Brain Anterior Caudate	brain
23	chr2:11378800-11428600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr2:11379800-11397000	Weak transcription	GM12878-XiMat	blood
25	chr2:11380000-11396400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr2:11380400-11397400	Weak transcription	Right Atrium	heart
27	chr2:11382800-11410200	Weak transcription	Primary B cells from cord blood	blood
28	chr2:11383000-11424000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr2:11383200-11397200	Weak transcription	Lung	lung
30	chr2:11383200-11397400	Weak transcription	Esophagus	oesophagus
31	chr2:11383200-11409800	Weak transcription	Primary T cells from cord blood	blood
32	chr2:11383400-11410400	Weak transcription	Primary hematopoietic stem cells	blood
33	chr2:11385000-11411000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr2:11386400-11398200	Weak transcription	Brain Cingulate Gyrus	brain
35	chr2:11387400-11397400	Weak transcription	Dnd41	blood
36	chr2:11387800-11417400	Weak transcription	Placenta	Placenta
37	chr2:11388400-11397000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr2:11388400-11401000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr2:11388600-11396400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr2:11388600-11406400	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr2:11388600-11411200	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr2:11388800-11396400	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr2:11389000-11396400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr2:11389200-11396200	Weak transcription	Fetal Stomach	stomach
45	chr2:11389600-11411000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr2:11389800-11396400	Weak transcription	Duodenum Mucosa	Duodenum
47	chr2:11389800-11396800	Weak transcription	HSMM	muscle
48	chr2:11389800-11397200	Weak transcription	Primary monocytes fromperipheralblood	blood
49	chr2:11389800-11397200	Weak transcription	Monocytes-CD14+_RO01746	blood
50	chr2:11389800-11399000	Weak transcription	Cortex derived primary cultured neurospheres	brain

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