Variant report

Variant	rs11909573
Chromosome Location	chr21:45186820-45186821
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:45160832..45163184-chr21:45185255..45188913,4	MCF-7	breast:
2	chr21:45184800..45186919-chr21:45202076..45204506,2	MCF-7	breast:
3	chr21:45150500..45152044-chr21:45185669..45188271,2	MCF-7	breast:
4	chr21:45138604..45142209-chr21:45185832..45189641,4	K562	blood:
5	chr21:45172516..45176384-chr21:45184983..45188324,4	MCF-7	breast:
6	chr21:45186409..45188413-chr21:45222813..45224847,2	MCF-7	breast:
7	chr21:45160747..45162401-chr21:45185298..45186832,2	K562	blood:
8	chr21:45185836..45188296-chr21:45517266..45520061,2	K562	blood:
9	chr21:45147794..45149532-chr21:45185305..45188143,2	K562	blood:
10	chr21:45176799..45180649-chr21:45186150..45189373,7	K562	blood:
11	chr21:45138824..45140737-chr21:45184086..45186856,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000234030	Chromatin interaction
ENSG00000160209	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11909059	1.00[AMR][1000 genomes]
rs11909727	1.00[AMR][1000 genomes]
rs11910571	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11910887	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11911756	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12106483	1.00[AMR][1000 genomes]
rs34329830	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34480572	1.00[AMR][1000 genomes]
rs34486226	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34717646	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35185076	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35493534	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61737064	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv913874	chr21:45041790-45191005	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv531544	chr21:45071371-45202912	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv531545	chr21:45095397-45395904	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv913875	chr21:45119629-45191005	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	nsv913876	chr21:45119629-45267193	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers 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	46 gene(s)	inside rSNPs	diseases
6	nsv459290	chr21:45128454-45191139	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
7	nsv587702	chr21:45128454-45191139	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats 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	30 gene(s)	inside rSNPs	diseases
8	esv2830066	chr21:45133868-45258047	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
9	esv1828675	chr21:45142427-45191139	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
10	nsv913879	chr21:45145286-45237039	Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
11	nsv913880	chr21:45145286-45263920	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
12	nsv913881	chr21:45145286-45267193	Flanking Active TSS Strong transcription Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
13	nsv1055154	chr21:45148076-45203162	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
14	nsv470904	chr21:45151045-45258047	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
15	nsv913882	chr21:45151874-45370715	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers 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	31 gene(s)	inside rSNPs	diseases
16	nsv834107	chr21:45155325-45294546	Enhancers Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
17	esv33817	chr21:45169412-46031810	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS 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	121 gene(s)	inside rSNPs	diseases
18	nsv459291	chr21:45175958-45191139	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
19	nsv587717	chr21:45175958-45191139	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
20	nsv520305	chr21:45175958-45246326	Strong transcription Genic enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
21	nsv834108	chr21:45178037-45369641	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 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	chr21:45149000-45194400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr21:45149800-45188200	Weak transcription	Primary hematopoietic stem cells	blood
3	chr21:45160800-45187200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr21:45167200-45187200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr21:45168800-45194000	Weak transcription	Right Atrium	heart
6	chr21:45173600-45188000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr21:45174400-45195200	Weak transcription	Psoas Muscle	Psoas
8	chr21:45174800-45194000	Weak transcription	Fetal Heart	heart
9	chr21:45176200-45188000	Weak transcription	HUVEC	blood vessel
10	chr21:45176600-45192800	Weak transcription	Primary B cells from cord blood	blood
11	chr21:45177000-45192600	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr21:45177000-45193800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr21:45177000-45195200	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr21:45177200-45193000	Weak transcription	Dnd41	blood
15	chr21:45177600-45188400	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr21:45177800-45191800	Weak transcription	Primary B cells from peripheral blood	blood
17	chr21:45178000-45193000	Weak transcription	Small Intestine	intestine
18	chr21:45178600-45187000	Weak transcription	Fetal Brain Male	brain
19	chr21:45178600-45187600	Weak transcription	HSMM	muscle
20	chr21:45178600-45187600	Weak transcription	NH-A	brain
21	chr21:45178600-45192600	Weak transcription	Primary T cells from cord blood	blood
22	chr21:45179000-45192000	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr21:45179000-45192400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr21:45179000-45193000	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr21:45179200-45187800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr21:45179200-45188200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr21:45179200-45192400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr21:45179200-45192600	Weak transcription	Brain Germinal Matrix	brain
29	chr21:45179200-45192800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr21:45179400-45187000	Weak transcription	Rectal Smooth Muscle	rectum
31	chr21:45179400-45188000	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr21:45179400-45188000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr21:45179400-45192800	Weak transcription	Colon Smooth Muscle	Colon
34	chr21:45179400-45193000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr21:45179600-45187800	Weak transcription	Brain Substantia Nigra	brain
36	chr21:45179600-45187800	Weak transcription	HSMMtube	muscle
37	chr21:45179600-45192400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr21:45180800-45188000	Weak transcription	Fetal Thymus	thymus
39	chr21:45181200-45193400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr21:45182200-45187000	Weak transcription	Ovary	ovary
41	chr21:45182200-45187200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr21:45182200-45192800	Weak transcription	Brain Angular Gyrus	brain
43	chr21:45182400-45187400	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr21:45182400-45193000	Weak transcription	Fetal Brain Female	brain
45	chr21:45182600-45187000	Weak transcription	Liver	Liver
46	chr21:45182600-45187800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr21:45182800-45187000	Weak transcription	Gastric	stomach
48	chr21:45182800-45187400	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr21:45183200-45187400	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr21:45183200-45187400	Weak transcription	Placenta Amnion	Placenta Amnion

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