Variant report

Variant	rs58621819
Chromosome Location	chr11:65314830-65314831
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:65264480..65266722-chr11:65312839..65315295,3	MCF-7	breast:
2	chr11:65313091..65315677-chr11:65380016..65384543,4	K562	blood:
3	chr11:65265253..65270298-chr11:65311800..65316872,7	MCF-7	breast:
4	chr11:65188258..65192947-chr11:65311570..65315780,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000197136	Chromatin interaction
ENSG00000173327	Chromatin interaction
ENSG00000245532	Chromatin interaction
ENSG00000251562	Chromatin interaction
ENSG00000270117	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11227217	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1144928	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1783541	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2846139	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7931311	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs947791	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897715	chr11:65083491-65427346	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	984 gene(s)	inside rSNPs	diseases
2	nsv897716	chr11:65083491-65481166	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	999 gene(s)	inside rSNPs	diseases
3	esv1829999	chr11:65136686-65343124	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	963 gene(s)	inside rSNPs	diseases
4	nsv897718	chr11:65140209-65577516	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1003 gene(s)	inside rSNPs	diseases
5	nsv541068	chr11:65142779-65331136	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	953 gene(s)	inside rSNPs	diseases
6	nsv541069	chr11:65142779-65368787	Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	965 gene(s)	inside rSNPs	diseases
7	nsv541070	chr11:65142779-65397058	Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent Enhancer Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	972 gene(s)	inside rSNPs	diseases
8	nsv541071	chr11:65142779-65429352	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	984 gene(s)	inside rSNPs	diseases
9	nsv897719	chr11:65157094-65335705	Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	949 gene(s)	inside rSNPs	diseases
10	nsv541073	chr11:65171202-65331136	Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	949 gene(s)	inside rSNPs	diseases
11	nsv541074	chr11:65171202-65368787	Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Weak transcription 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 miRNA target site	961 gene(s)	inside rSNPs	diseases
12	nsv541075	chr11:65210592-65331136	Genic enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	620 gene(s)	inside rSNPs	diseases
13	nsv541076	chr11:65210592-65397058	Flanking Active TSS Genic enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	645 gene(s)	inside rSNPs	diseases
14	nsv897720	chr11:65213434-65445950	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	665 gene(s)	inside rSNPs	diseases
15	nsv897721	chr11:65278461-65422853	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
16	nsv897722	chr11:65278461-65436888	Genic enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised 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	102 gene(s)	inside rSNPs	diseases
17	nsv897723	chr11:65294830-65481166	Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
18	nsv897726	chr11:65300252-65318871	Genic enhancers Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	28 gene(s)	inside rSNPs	diseases
19	nsv897728	chr11:65302893-65318871	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	28 gene(s)	inside rSNPs	diseases
20	nsv897729	chr11:65302893-65322548	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	30 gene(s)	inside rSNPs	diseases
21	nsv897730	chr11:65302893-65376484	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
22	nsv897731	chr11:65304592-65318871	Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65307200-65322600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:65308400-65319000	Weak transcription	Small Intestine	intestine
3	chr11:65309000-65318400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr11:65309200-65316000	Weak transcription	NH-A	brain
5	chr11:65309200-65316200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr11:65309200-65316200	Weak transcription	HSMMtube	muscle
7	chr11:65309200-65318400	Weak transcription	HUVEC	blood vessel
8	chr11:65309200-65320600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr11:65309200-65320600	Strong transcription	Osteobl	bone
10	chr11:65309200-65322200	Strong transcription	Cortex derived primary cultured neurospheres	brain
11	chr11:65309200-65323000	Weak transcription	Psoas Muscle	Psoas
12	chr11:65309400-65317000	Strong transcription	NHLF	lung
13	chr11:65309400-65319000	Weak transcription	NHDF-Ad	bronchial
14	chr11:65309400-65319400	Weak transcription	HSMM	muscle
15	chr11:65309400-65323000	Weak transcription	Right Atrium	heart
16	chr11:65309800-65322200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr11:65310200-65320400	Strong transcription	Muscle Satellite Cultured Cells	--
18	chr11:65310200-65320800	Strong transcription	Brain Cingulate Gyrus	brain
19	chr11:65310400-65322000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr11:65310800-65324000	Weak transcription	Fetal Kidney	kidney
21	chr11:65311000-65317200	Weak transcription	Ovary	ovary
22	chr11:65311200-65316000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr11:65312000-65316000	Weak transcription	Brain Angular Gyrus	brain
24	chr11:65312800-65316600	Strong transcription	A549	lung
25	chr11:65313000-65316400	Enhancers	Primary hematopoietic stem cells	blood
26	chr11:65313000-65320800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr11:65313200-65317000	Enhancers	Primary B cells from cord blood	blood
28	chr11:65313400-65315000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
29	chr11:65313400-65315000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr11:65313400-65315200	Flanking Active TSS	Fetal Thymus	thymus
31	chr11:65313400-65316600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
32	chr11:65313600-65315000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
33	chr11:65313600-65315000	Enhancers	HMEC	breast
34	chr11:65313600-65315200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
35	chr11:65313600-65315200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
36	chr11:65313600-65315200	Enhancers	Fetal Heart	heart
37	chr11:65313600-65315400	Weak transcription	Brain Anterior Caudate	brain
38	chr11:65313600-65315400	Flanking Active TSS	Dnd41	blood
39	chr11:65313600-65315600	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr11:65313600-65315800	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr11:65313600-65318600	Weak transcription	Brain Substantia Nigra	brain
42	chr11:65313800-65315000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr11:65313800-65315000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
44	chr11:65313800-65315000	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
45	chr11:65313800-65315000	Enhancers	Spleen	Spleen
46	chr11:65313800-65315200	Weak transcription	Colon Smooth Muscle	Colon
47	chr11:65313800-65315200	Weak transcription	Fetal Lung	lung
48	chr11:65313800-65315600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
49	chr11:65313800-65315600	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr11:65314000-65315200	Active TSS	H9 Cell Line	embryonic stem cell

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