Variant report

Variant	rs2306211
Chromosome Location	chr3:121151784-121151785
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	chr3:121143314..121145833-chr3:121149976..121152815,2	MCF-7	breast:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs3218635	1.00[MEX][hapmap]
rs3218639	1.00[CEU][hapmap];1.00[MEX][hapmap]
rs3218640	1.00[CEU][hapmap];1.00[MEX][hapmap]
rs3218642	1.00[MEX][hapmap]
rs3218643	1.00[CEU][hapmap]
rs3772119	1.00[CEU][hapmap];1.00[MEX][hapmap]
rs71329219	0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998555	chr3:120700604-121348015	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
2	nsv521397	chr3:120970900-121192350	Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv591395	chr3:120970900-121501070	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	nsv591396	chr3:120970900-121557533	Strong transcription Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
5	nsv591397	chr3:120977383-121505882	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
6	nsv829702	chr3:121045793-121227975	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv591398	chr3:121046468-121154193	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv591399	chr3:121046468-121160369	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv591400	chr3:121070299-121339354	Strong transcription Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
10	nsv591401	chr3:121094592-121160369	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv999335	chr3:121100283-121408766	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:121134200-121152600	Weak transcription	Hela-S3	cervix
2	chr3:121139200-121186000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr3:121140600-121170800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr3:121141200-121186000	Weak transcription	NHEK	skin
5	chr3:121142200-121161600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr3:121143600-121160000	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr3:121145200-121160200	Strong transcription	HUES64 Cell Line	embryonic stem cell
8	chr3:121145400-121160600	Strong transcription	HUES48 Cell Line	embryonic stem cell
9	chr3:121145800-121155800	Strong transcription	HUES6 Cell Line	embryonic stem cell
10	chr3:121145800-121161200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
11	chr3:121146000-121177400	Weak transcription	Fetal Muscle Leg	muscle
12	chr3:121146000-121185800	Weak transcription	Fetal Stomach	stomach
13	chr3:121146200-121154600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr3:121146200-121185600	Weak transcription	Fetal Muscle Trunk	muscle
15	chr3:121146400-121152400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr3:121146400-121185800	Weak transcription	Fetal Intestine Large	intestine
17	chr3:121146800-121151800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr3:121147000-121153400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
19	chr3:121147000-121153800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr3:121147200-121153400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr3:121148000-121170800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr3:121148400-121199600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr3:121148600-121152000	Strong transcription	Primary neutrophils fromperipheralblood	blood
24	chr3:121148600-121153200	Strong transcription	H1 Cell Line	embryonic stem cell
25	chr3:121148600-121155800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr3:121148600-121159600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr3:121148800-121155600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
28	chr3:121149000-121151800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr3:121149000-121153200	Strong transcription	A549	lung
30	chr3:121149200-121152800	Weak transcription	K562	blood
31	chr3:121149200-121155000	Weak transcription	Fetal Heart	heart
32	chr3:121149200-121160200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr3:121149400-121181000	Weak transcription	HMEC	breast
34	chr3:121149400-121196600	Weak transcription	NH-A	brain
35	chr3:121149400-121199600	Weak transcription	Fetal Lung	lung
36	chr3:121149800-121177400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr3:121149800-121177400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr3:121150000-121166200	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr3:121150400-121151800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
40	chr3:121150600-121151800	Enhancers	Primary B cells from peripheral blood	blood
41	chr3:121150600-121151800	Enhancers	Fetal Thymus	thymus
42	chr3:121150600-121151800	Active TSS	Stomach Smooth Muscle	stomach
43	chr3:121150600-121152200	Genic enhancers	GM12878-XiMat	blood
44	chr3:121150600-121153800	Genic enhancers	Dnd41	blood
45	chr3:121150800-121151800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr3:121150800-121151800	Active TSS	Brain Hippocampus Middle	brain
47	chr3:121150800-121151800	Active TSS	Ovary	ovary
48	chr3:121150800-121152600	Strong transcription	ES-I3 Cell Line	embryonic stem cell
49	chr3:121150800-121152800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr3:121151000-121151800	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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