Variant report

Variant	rs577407405
Chromosome Location	chr2:73114517-73114518
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:73113720..73115697-chr2:73143241..73144788,2	MCF-7	breast:
2	chr2:73113671..73115841-chr2:73142116..73144129,2	MCF-7	breast:
3	chr2:73113851..73116141-chr2:73460063..73461895,2	K562	blood:
4	chr2:73113964..73115739-chr2:73439855..73442724,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000135617	Chromatin interaction
ENSG00000135632	Chromatin interaction
ENSG00000135638	Chromatin interaction
ENSG00000135624	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532723	chr2:73088191-73219259	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	esv3377861	chr2:73113469-73116017	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:73113800-73115200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
2	chr2:73113800-73115200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
3	chr2:73113800-73115200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
4	chr2:73113800-73115200	Active TSS	Breast Myoepithelial Primary Cells	Breast
5	chr2:73113800-73115200	Active TSS	Brain Inferior Temporal Lobe	brain
6	chr2:73113800-73115200	Active TSS	Colon Smooth Muscle	Colon
7	chr2:73113800-73115200	Active TSS	Psoas Muscle	Psoas
8	chr2:73113800-73115400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
9	chr2:73113800-73115800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr2:73114000-73114600	Bivalent/Poised TSS	Primary B cells from cord blood	blood
11	chr2:73114000-73114600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
12	chr2:73114000-73114600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr2:73114000-73114800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:73114000-73114800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr2:73114000-73114800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
16	chr2:73114000-73114800	Bivalent Enhancer	Fetal Thymus	thymus
17	chr2:73114000-73115000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr2:73114000-73115000	Bivalent/Poised TSS	Fetal Kidney	kidney
19	chr2:73114000-73115000	Flanking Active TSS	HMEC	breast
20	chr2:73114000-73115200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
21	chr2:73114000-73115200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
22	chr2:73114000-73115200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr2:73114000-73115200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr2:73114000-73115200	Bivalent/Poised TSS	Primary T cells from cord blood	blood
25	chr2:73114000-73115200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
26	chr2:73114000-73115200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr2:73114000-73115200	Active TSS	Brain Angular Gyrus	brain
28	chr2:73114000-73115200	Active TSS	Brain Cingulate Gyrus	brain
29	chr2:73114000-73115200	Active TSS	Rectal Smooth Muscle	rectum
30	chr2:73114000-73115200	Active TSS	Right Atrium	heart
31	chr2:73114000-73115200	Active TSS	HSMMtube	muscle
32	chr2:73114000-73115200	Active TSS	NHLF	lung
33	chr2:73114000-73115400	Active TSS	Aorta	Aorta
34	chr2:73114000-73115600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr2:73114000-73115600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr2:73114000-73115600	Active TSS	Pancreatic Islets	Pancreatic Islet
37	chr2:73114200-73114600	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
38	chr2:73114200-73114600	Bivalent/Poised TSS	Primary T regulatory cells fromperipheralblood	blood
39	chr2:73114200-73114600	Flanking Active TSS	Placenta Amnion	Placenta Amnion
40	chr2:73114200-73114600	Active TSS	Spleen	Spleen
41	chr2:73114200-73114800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr2:73114200-73114800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
43	chr2:73114200-73114800	Bivalent/Poised TSS	Primary T helper cells PMA-I stimulated	--
44	chr2:73114200-73114800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr2:73114200-73114800	Active TSS	Fetal Intestine Large	intestine
46	chr2:73114200-73114800	Active TSS	Stomach Mucosa	stomach
47	chr2:73114200-73114800	Active TSS	HUVEC	blood vessel
48	chr2:73114200-73115000	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr2:73114200-73115000	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr2:73114200-73115000	Bivalent/Poised TSS	Primary T helper memory cells from peripheral blood 2	blood

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