Variant report

Variant	rs189120700
Chromosome Location	chr2:10287373-10287374
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	chr2:10280234..10284189-chr2:10285116..10288798,5	MCF-7	breast:
2	chr2:10280390..10283341-chr2:10285489..10288110,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000163009	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	nsv1011125	chr2:9996740-10293803	Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
2	nsv1011689	chr2:10023891-10293803	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
3	nsv873634	chr2:10275814-10337034	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	11 gene(s)	inside rSNPs	diseases
4	nsv873635	chr2:10286466-10344465	Weak transcription Bivalent Enhancer Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10269600-10299400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr2:10271400-10303800	Weak transcription	Primary hematopoietic stem cells	blood
3	chr2:10272600-10289800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr2:10273800-10289800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr2:10273800-10330400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr2:10274000-10299200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:10276400-10307400	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr2:10276600-10301800	Weak transcription	Osteobl	bone
9	chr2:10277600-10321600	Weak transcription	K562	blood
10	chr2:10277800-10295400	Weak transcription	Hela-S3	cervix
11	chr2:10278000-10302200	Weak transcription	HSMM	muscle
12	chr2:10278000-10311800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr2:10279400-10292000	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr2:10279600-10295600	Weak transcription	Fetal Brain Female	brain
15	chr2:10281000-10292400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr2:10281000-10294200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr2:10282000-10287800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr2:10282200-10290200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
19	chr2:10282200-10316600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr2:10282400-10289800	Strong transcription	Dnd41	blood
21	chr2:10283000-10289200	Strong transcription	Fetal Thymus	thymus
22	chr2:10283000-10289600	Weak transcription	Primary T cells from cord blood	blood
23	chr2:10283400-10287800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr2:10283600-10289800	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr2:10283800-10289800	Weak transcription	Duodenum Mucosa	Duodenum
26	chr2:10284400-10288800	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr2:10284400-10289800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr2:10284400-10299400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr2:10284600-10295400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr2:10285000-10299400	Weak transcription	Fetal Lung	lung
31	chr2:10285200-10289800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr2:10285200-10299800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr2:10285400-10302000	Weak transcription	HMEC	breast
34	chr2:10285600-10287800	Strong transcription	A549	lung
35	chr2:10285600-10307400	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr2:10285800-10287800	Strong transcription	Fetal Intestine Small	intestine
37	chr2:10285800-10310400	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr2:10286200-10293600	Weak transcription	Fetal Muscle Leg	muscle
39	chr2:10286200-10299600	Weak transcription	Brain Germinal Matrix	brain
40	chr2:10286400-10289000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr2:10286400-10289600	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr2:10286400-10289800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr2:10286400-10296000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr2:10286400-10301800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr2:10286400-10331400	Weak transcription	Spleen	Spleen
46	chr2:10286600-10289400	Weak transcription	HepG2	liver
47	chr2:10286600-10304000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr2:10286800-10289800	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr2:10286800-10290000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr2:10286800-10295800	Weak transcription	Fetal Muscle Trunk	muscle

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