Variant report

Variant	rs2169302
Chromosome Location	chr3:121146061-121146062
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs2127026	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2877516	0.93[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap]
rs3772120	0.82[ASN][1000 genomes]
rs41545720	0.88[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs6785733	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6786171	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[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:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:121129200-121148800	Weak transcription	GM12878-XiMat	blood
2	chr3:121134200-121152600	Weak transcription	Hela-S3	cervix
3	chr3:121134600-121146400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr3:121135800-121148600	Weak transcription	Thymus	Thymus
5	chr3:121135800-121149000	Weak transcription	A549	lung
6	chr3:121137800-121148800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr3:121139200-121150600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr3:121139200-121186000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr3:121139400-121147400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr3:121140200-121149000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr3:121140600-121147000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr3:121140600-121150800	Weak transcription	HSMM	muscle
13	chr3:121140600-121170800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr3:121140800-121148400	Weak transcription	Fetal Thymus	thymus
15	chr3:121140800-121149000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr3:121140800-121150800	Weak transcription	Primary hematopoietic stem cells	blood
17	chr3:121140800-121151400	Weak transcription	HepG2	liver
18	chr3:121141000-121148800	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr3:121141200-121186000	Weak transcription	NHEK	skin
20	chr3:121141600-121147000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr3:121141600-121148600	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr3:121141800-121146800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr3:121141800-121147200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr3:121142200-121161600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr3:121142600-121151000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr3:121143000-121147400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr3:121143000-121148200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr3:121143200-121147400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr3:121143200-121148600	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr3:121143200-121150800	Weak transcription	NHLF	lung
31	chr3:121143400-121150800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr3:121143600-121160000	Strong transcription	Monocytes-CD14+_RO01746	blood
33	chr3:121144200-121148600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr3:121144400-121148600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr3:121144600-121150600	Strong transcription	Dnd41	blood
36	chr3:121144800-121147200	Strong transcription	Primary monocytes fromperipheralblood	blood
37	chr3:121144800-121150800	Weak transcription	HUVEC	blood vessel
38	chr3:121145200-121150600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr3:121145200-121160200	Strong transcription	HUES64 Cell Line	embryonic stem cell
40	chr3:121145400-121148800	Weak transcription	K562	blood
41	chr3:121145400-121150800	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr3:121145400-121160600	Strong transcription	HUES48 Cell Line	embryonic stem cell
43	chr3:121145800-121147400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
44	chr3:121145800-121147400	Weak transcription	Fetal Lung	lung
45	chr3:121145800-121149000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr3:121145800-121155800	Strong transcription	HUES6 Cell Line	embryonic stem cell
47	chr3:121145800-121161200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
48	chr3:121146000-121148600	Weak transcription	Fetal Heart	heart
49	chr3:121146000-121150600	Weak transcription	Duodenum Mucosa	Duodenum
50	chr3:121146000-121177400	Weak transcription	Fetal Muscle Leg	muscle

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