Variant report

Variant	rs8682
Chromosome Location	chr3:20026409-20026410
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:20022682..20025378-chr3:20026127..20028940,2	MCF-7	breast:
2	chr3:20002484..20004895-chr3:20024210..20026501,2	K562	blood:
3	chr3:20026329..20028709-chr3:20079789..20082702,2	K562	blood:
4	chr3:19997450..19999508-chr3:20025460..20027848,2	K562	blood:

Variant related genes	Relation type
ENSG00000114166	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11716116	0.92[CHB][hapmap];0.81[JPT][hapmap];0.82[ASN][1000 genomes]
rs12486406	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12489907	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12496392	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12496946	0.83[ASN][1000 genomes]
rs13078869	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13079277	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13098043	0.82[ASN][1000 genomes]
rs13098054	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2170342	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2623078	0.83[CHB][hapmap]
rs2686325	0.85[CEU][hapmap]
rs2929412	0.81[ASN][1000 genomes]
rs2948104	0.84[CHB][hapmap]
rs2948113	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34050713	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34468236	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34955379	0.93[AFR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35094497	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35172759	0.83[ASN][1000 genomes]
rs35757621	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4302401	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4858660	0.84[ASN][1000 genomes]
rs6778866	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6781143	1.00[CEU][hapmap];0.81[JPT][hapmap];0.89[YRI][hapmap];0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7625149	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9968122	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1828161	chr3:19547184-20062060	Flanking Active TSS Genic enhancers Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	esv1825914	chr3:19549859-20137270	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	esv1833006	chr3:19562271-20389045	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	esv1826570	chr3:19579860-20077414	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	esv1833139	chr3:19579860-20121349	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	esv1826254	chr3:19592688-20042834	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv1010613	chr3:19942032-20461486	Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
8	esv1826030	chr3:19972766-20170581	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
9	esv1825988	chr3:19976375-20102773	Flanking Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
10	esv1826830	chr3:19982972-20632072	Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
11	nsv997486	chr3:20006702-20113989	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
12	esv1829542	chr3:20009231-20384627	Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:19999600-20027600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr3:20008800-20035600	Weak transcription	Psoas Muscle	Psoas
3	chr3:20011800-20027400	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr3:20011800-20028000	Strong transcription	HUES64 Cell Line	embryonic stem cell
5	chr3:20012000-20027800	Strong transcription	Primary B cells from peripheral blood	blood
6	chr3:20012000-20027800	Strong transcription	Primary T helper cells fromperipheralblood	blood
7	chr3:20012400-20027600	Strong transcription	Primary B cells from cord blood	blood
8	chr3:20012400-20033600	Weak transcription	Fetal Brain Male	brain
9	chr3:20014400-20027000	Strong transcription	Primary T helper cells PMA-I stimulated	--
10	chr3:20014600-20027600	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr3:20015200-20026800	Strong transcription	Rectal Mucosa Donor 29	rectum
12	chr3:20015200-20027000	Strong transcription	HUES48 Cell Line	embryonic stem cell
13	chr3:20015200-20027200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr3:20015200-20027600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr3:20015200-20027600	Strong transcription	Cortex derived primary cultured neurospheres	brain
16	chr3:20015200-20030000	Strong transcription	Fetal Thymus	thymus
17	chr3:20015400-20027200	Strong transcription	Duodenum Mucosa	Duodenum
18	chr3:20015400-20027400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr3:20015400-20027600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr3:20015400-20028200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
21	chr3:20015400-20028200	Strong transcription	Placenta	Placenta
22	chr3:20015600-20026600	Strong transcription	Primary T cells fromperipheralblood	blood
23	chr3:20015600-20026600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
24	chr3:20015600-20026800	Strong transcription	Primary neutrophils fromperipheralblood	blood
25	chr3:20015600-20027200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr3:20015600-20027200	Strong transcription	Fetal Intestine Large	intestine
27	chr3:20015600-20027600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr3:20015800-20026600	Strong transcription	Adipose Nuclei	Adipose
29	chr3:20015800-20026600	Strong transcription	Osteobl	bone
30	chr3:20015800-20027200	Strong transcription	Liver	Liver
31	chr3:20015800-20027200	Strong transcription	Dnd41	blood
32	chr3:20015800-20027600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
33	chr3:20015800-20027600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr3:20016000-20027400	Strong transcription	NH-A	brain
35	chr3:20016200-20027600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr3:20016200-20028000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr3:20016600-20027600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr3:20016800-20027000	Strong transcription	Primary T killer memory cells from peripheral blood	blood
39	chr3:20020400-20027600	Strong transcription	Primary T cells from cord blood	blood
40	chr3:20021000-20027400	Strong transcription	HUVEC	blood vessel
41	chr3:20021400-20028200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr3:20021800-20027600	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr3:20021800-20029400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr3:20023000-20045800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr3:20023400-20029000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr3:20023600-20026600	Strong transcription	A549	lung
47	chr3:20023800-20027400	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr3:20024000-20026600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr3:20024000-20027000	Weak transcription	Fetal Kidney	kidney
50	chr3:20024000-20027400	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood

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