Variant report

Variant	rs11926611
Chromosome Location	chr3:52006405-52006406
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr3:52005479-52007127	HepG2	liver:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:52005327..52011372-chr3:52027090..52031188,9	MCF-7	breast:
2	chr3:52006271..52012102-chr3:52024917..52032079,14	MCF-7	breast:
3	chr3:51974725..51977771-chr3:52005335..52009465,8	K562	blood:
4	chr3:51976428..51980212-chr3:52001978..52006587,6	MCF-7	breast:
5	chr3:51974179..51978718-chr3:52004198..52010829,11	K562	blood:

No data

Variant related genes	Relation type
ACY1	TF binding region
ABHD14A	TF binding region
PCBP4	TF binding region
ABHD14A-ACY1	TF binding region
ENSG00000041880	Chromatin interaction
ENSG00000162244	Chromatin interaction
ENSG00000114767	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1566941	0.89[ASN][1000 genomes]
rs1876052	0.89[ASN][1000 genomes]
rs188953	1.00[CEU][hapmap]
rs2015691	0.84[YRI][hapmap]
rs2271069	0.89[ASN][1000 genomes]
rs323858	0.84[YRI][hapmap]
rs323863	0.84[YRI][hapmap]
rs323864	0.87[AFR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs323868	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs323871	1.00[CEU][hapmap];0.81[YRI][hapmap];0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs323873	1.00[CEU][hapmap];0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs323874	1.00[CEU][hapmap];0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs323879	1.00[CEU][hapmap];0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs323881	1.00[ASN][1000 genomes]
rs323885	1.00[ASN][1000 genomes]
rs323886	1.00[CEU][hapmap];0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs323887	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs323892	0.84[YRI][hapmap]
rs323893	1.00[CEU][hapmap];0.85[YRI][hapmap];0.93[AFR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs323894	1.00[ASN][1000 genomes]
rs323895	1.00[CEU][hapmap];0.85[YRI][hapmap];0.92[AFR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs323897	0.84[YRI][hapmap]
rs323898	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs3755797	0.89[ASN][1000 genomes]
rs3774344	1.00[CEU][hapmap];0.89[ASN][1000 genomes]
rs379462	0.84[YRI][hapmap]
rs380788	0.81[YRI][hapmap]
rs404527	0.81[YRI][hapmap]
rs411209	1.00[CEU][hapmap];0.80[YRI][hapmap];1.00[ASN][1000 genomes]
rs4986825	1.00[CEU][hapmap];0.89[ASN][1000 genomes]
rs56715917	0.89[ASN][1000 genomes]
rs61087263	0.89[ASN][1000 genomes]
rs6446166	0.85[ASN][1000 genomes]
rs7614743	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv520211	chr3:51772347-52166147	Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv1012847	chr3:51811062-52056727	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	68 gene(s)	inside rSNPs	diseases
3	nsv536571	chr3:51811062-52056727	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	68 gene(s)	inside rSNPs	diseases
4	nsv1003453	chr3:51962081-52099441	Active TSS Genic enhancers Strong transcription Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
5	esv1804090	chr3:51962081-52140591	Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
6	esv1835339	chr3:51962081-52140591	Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
7	nsv1003581	chr3:51973395-52108645	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
8	nsv1001062	chr3:51973395-52134638	Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
9	nsv876780	chr3:51981021-52101799	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
10	nsv876781	chr3:51985664-52009612	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
11	nsv876782	chr3:51985664-52022779	Flanking Bivalent TSS/Enh Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
12	nsv876783	chr3:51987224-52009612	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
13	nsv876784	chr3:51987224-52013242	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
14	nsv876785	chr3:51994881-52022779	Flanking Active TSS Weak transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
15	nsv519445	chr3:52004317-52367932	Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	134 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	chr3:52001800-52007600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr3:52002200-52007400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr3:52002400-52007200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr3:52002400-52007200	Enhancers	Liver	Liver
5	chr3:52002400-52007400	Weak transcription	Primary hematopoietic stem cells	blood
6	chr3:52002400-52007400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr3:52002400-52007400	Weak transcription	Ovary	ovary
8	chr3:52002400-52007400	Weak transcription	Psoas Muscle	Psoas
9	chr3:52002400-52007400	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr3:52002400-52007400	Weak transcription	NHDF-Ad	bronchial
11	chr3:52002400-52007600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr3:52002400-52007600	Weak transcription	Left Ventricle	heart
13	chr3:52002600-52007400	Weak transcription	Primary B cells from cord blood	blood
14	chr3:52002600-52007400	Weak transcription	Right Atrium	heart
15	chr3:52002800-52006800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr3:52002800-52006800	Weak transcription	Rectal Smooth Muscle	rectum
17	chr3:52002800-52007000	Weak transcription	Stomach Smooth Muscle	stomach
18	chr3:52002800-52007400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr3:52002800-52007400	Weak transcription	Primary B cells from peripheral blood	blood
20	chr3:52002800-52007400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr3:52002800-52007400	Weak transcription	Colonic Mucosa	Colon
22	chr3:52002800-52007400	Weak transcription	GM12878-XiMat	blood
23	chr3:52002800-52007400	Weak transcription	HUVEC	blood vessel
24	chr3:52002800-52007400	Weak transcription	Osteobl	bone
25	chr3:52003000-52006600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr3:52003000-52006600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr3:52003000-52006800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr3:52003000-52006800	Weak transcription	Small Intestine	intestine
29	chr3:52003000-52007200	Weak transcription	Placenta	Placenta
30	chr3:52003000-52007400	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr3:52003000-52007400	Weak transcription	Adipose Nuclei	Adipose
32	chr3:52003000-52007400	Weak transcription	Brain Angular Gyrus	brain
33	chr3:52003000-52007400	Weak transcription	Colon Smooth Muscle	Colon
34	chr3:52003000-52007400	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr3:52003000-52007600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr3:52003000-52007600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr3:52003200-52006600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr3:52003200-52007000	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr3:52003200-52007200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr3:52003200-52007200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr3:52003200-52007600	Weak transcription	Fetal Heart	heart
42	chr3:52003400-52007400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr3:52003400-52007400	Weak transcription	Primary T cells from cord blood	blood
44	chr3:52003400-52007400	Weak transcription	Fetal Kidney	kidney
45	chr3:52003400-52007400	Weak transcription	HSMMtube	muscle
46	chr3:52003400-52007600	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr3:52003600-52007600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr3:52003600-52007600	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr3:52003800-52007400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr3:52003800-52007400	Weak transcription	H9 Cell Line	embryonic stem cell

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