Variant report

Variant	rs568253786
Chromosome Location	chr2:39988395-39988396
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:39987488..39989422-chr2:39993351..39995786,2	MCF-7	breast:
2	chr2:39986915..39988908-chr2:40004711..40006490,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000138050	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833870	chr2:39837022-40026024	Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv833881	chr2:39914558-40067256	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv873890	chr2:39976810-40009041	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv2696	chr2:39988381-40033288	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 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	chr2:39962200-39993200	Strong transcription	Liver	Liver
2	chr2:39965200-40005000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:39965200-40005400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr2:39967600-39991200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr2:39969800-39999800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr2:39971000-39999800	Weak transcription	Right Ventricle	heart
7	chr2:39971600-39998800	Strong transcription	HUES64 Cell Line	embryonic stem cell
8	chr2:39972400-39998600	Strong transcription	HMEC	breast
9	chr2:39972400-39998800	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr2:39973000-39998800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr2:39974200-39998600	Strong transcription	HUES48 Cell Line	embryonic stem cell
12	chr2:39974600-39994000	Strong transcription	Fetal Thymus	thymus
13	chr2:39975000-39998400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr2:39975000-39999800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
15	chr2:39975200-39989000	Strong transcription	Primary T cells fromperipheralblood	blood
16	chr2:39975200-39989800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr2:39975200-39993800	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr2:39975400-39997000	Strong transcription	HUES6 Cell Line	embryonic stem cell
19	chr2:39975800-39989400	Strong transcription	A549	lung
20	chr2:39975800-39994600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr2:39976000-39988600	Strong transcription	HepG2	liver
22	chr2:39976000-39988800	Strong transcription	Duodenum Mucosa	Duodenum
23	chr2:39976000-39989800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr2:39976000-39993200	Strong transcription	Placenta	Placenta
25	chr2:39976000-39993400	Strong transcription	Adipose Nuclei	Adipose
26	chr2:39976200-39995400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr2:39976200-39998800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
28	chr2:39976400-39992000	Strong transcription	K562	blood
29	chr2:39976600-39992000	Strong transcription	Primary B cells from cord blood	blood
30	chr2:39976800-39988800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
31	chr2:39976800-39999000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr2:39977000-39990000	Strong transcription	Fetal Muscle Leg	muscle
33	chr2:39977200-39989000	Strong transcription	Primary T helper cells fromperipheralblood	blood
34	chr2:39978200-39988600	Strong transcription	GM12878-XiMat	blood
35	chr2:39978600-40000000	Weak transcription	Fetal Heart	heart
36	chr2:39979800-39989200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr2:39980000-39992000	Strong transcription	Primary T cells from cord blood	blood
38	chr2:39980400-39989400	Strong transcription	HSMMtube	muscle
39	chr2:39982600-39992600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
40	chr2:39982800-39988600	Strong transcription	Rectal Mucosa Donor 29	rectum
41	chr2:39982800-39992000	Strong transcription	Skeletal Muscle Female	skeletal muscle
42	chr2:39983000-39989600	Strong transcription	Duodenum Smooth Muscle	Duodenum
43	chr2:39983000-39992000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr2:39983000-39999200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr2:39983200-39994000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr2:39983400-39989400	Strong transcription	Osteobl	bone
47	chr2:39983600-39994200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr2:39983600-39996400	Strong transcription	NHDF-Ad	bronchial
49	chr2:39983600-39998600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr2:39983600-39999000	Strong transcription	HSMM	muscle

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