Variant report

Variant	rs189709311
Chromosome Location	chr2:171729919-171729920
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:171226307..171227085-chr2:171729418..171730140,3	MCF-7	breast:
2	chr2:171729910..171732029-chr2:171733045..171735260,2	MCF-7	breast:
3	chr2:171092223..171093153-chr2:171729363..171730378,4	K562	blood:
4	chr2:171727055..171729021-chr2:171729761..171731412,2	K562	blood:
5	chr2:171701425..171702174-chr2:171729449..171729961,2	K562	blood:

Extended variants
information (count: 3 )
Associated
traits (count: 0)

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	nsv508179	chr2:171708404-171736003	Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv431801	chr2:171721493-171966493	ZNF genes & repeats Strong transcription Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv526140	chr2:171729643-171732497	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:171699000-171730000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:171729000-171730200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr2:171729200-171730000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr2:171729200-171730200	Enhancers	HUVEC	blood vessel
5	chr2:171729200-171730600	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr2:171729400-171730000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr2:171729400-171730000	Active TSS	Brain Cingulate Gyrus	brain
8	chr2:171729400-171730200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr2:171729400-171730200	Enhancers	Primary hematopoietic stem cells	blood
10	chr2:171729400-171730200	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr2:171729400-171730200	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr2:171729400-171730200	Enhancers	Fetal Heart	heart
13	chr2:171729400-171730200	Flanking Active TSS	Dnd41	blood
14	chr2:171729400-171730400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr2:171729400-171730400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr2:171729600-171730000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr2:171729600-171730000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr2:171729600-171730000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
19	chr2:171729600-171730000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr2:171729600-171730000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr2:171729600-171730000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr2:171729600-171730000	Flanking Active TSS	Primary T cells from cord blood	blood
23	chr2:171729600-171730000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
24	chr2:171729600-171730000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
25	chr2:171729600-171730000	Active TSS	Primary T regulatory cells fromperipheralblood	blood
26	chr2:171729600-171730000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr2:171729600-171730000	Active TSS	Primary T killer memory cells from peripheral blood	blood
28	chr2:171729600-171730000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr2:171729600-171730000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr2:171729600-171730000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
31	chr2:171729600-171730000	Active TSS	Brain Angular Gyrus	brain
32	chr2:171729600-171730000	Flanking Active TSS	Brain Hippocampus Middle	brain
33	chr2:171729600-171730000	Active TSS	Brain Inferior Temporal Lobe	brain
34	chr2:171729600-171730000	Active TSS	Colon Smooth Muscle	Colon
35	chr2:171729600-171730000	Active TSS	Duodenum Mucosa	Duodenum
36	chr2:171729600-171730000	Active TSS	Fetal Brain Female	brain
37	chr2:171729600-171730000	Active TSS	Fetal Intestine Small	intestine
38	chr2:171729600-171730000	Active TSS	Fetal Lung	lung
39	chr2:171729600-171730000	Flanking Active TSS	Fetal Stomach	stomach
40	chr2:171729600-171730000	Flanking Active TSS	Fetal Thymus	thymus
41	chr2:171729600-171730000	Active TSS	Rectal Mucosa Donor 29	rectum
42	chr2:171729600-171730000	Flanking Active TSS	Stomach Smooth Muscle	stomach
43	chr2:171729600-171730000	Active TSS	Thymus	Thymus
44	chr2:171729600-171730000	Active TSS	GM12878-XiMat	blood
45	chr2:171729600-171730000	Active TSS	Hela-S3	cervix
46	chr2:171729600-171730000	Active TSS	K562	blood
47	chr2:171729600-171730200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr2:171729600-171730200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr2:171729600-171730200	Enhancers	Primary B cells from peripheral blood	blood
50	chr2:171729600-171730200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--

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