Variant report

Variant	rs17004653
Chromosome Location	chr21:45930913-45930914
allele	A/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:5)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr21:45928985..45931297-chr21:46219796..46221889,2	MCF-7	breast:
2	chr21:45930910..45932830-chr21:45939919..45941918,2	MCF-7	breast:
3	chr21:45929071..45931481-chr21:46193501..46196167,2	MCF-7	breast:
4	chr21:45930623..45933218-chr21:46282665..46285532,2	MCF-7	breast:
5	chr21:45927714..45931885-chr21:46220128..46224260,6	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C21orf90-1	chr21:45930822-45930954	ENSG00000235890.1

No data

Variant related genes	Relation type
ENSG00000236519	Chromatin interaction
ENSG00000184787	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs17004657	1.00[MKK][hapmap];1.00[YRI][hapmap]
rs3788122	1.00[YRI][hapmap]
rs60258195	1.00[AFR][1000 genomes]
rs7275583	1.00[AFR][1000 genomes]
rs7284037	1.00[YRI][hapmap];1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv913898	chr21:45555079-45941566	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	74 gene(s)	inside rSNPs	diseases
3	esv3361489	chr21:45669073-46013747	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	69 gene(s)	inside rSNPs	diseases
4	nsv913918	chr21:45697755-45941566	Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	60 gene(s)	inside rSNPs	diseases
5	nsv1058359	chr21:45724055-45941566	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
6	nsv1065203	chr21:45731690-45941566	Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
7	nsv544473	chr21:45731690-45941566	Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
8	nsv913942	chr21:45740823-45941566	Strong transcription ZNF genes & repeats Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
9	nsv913943	chr21:45740823-46031810	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Weak transcription 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	52 gene(s)	inside rSNPs	diseases
10	nsv1067264	chr21:45757599-45941566	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
11	nsv544474	chr21:45757599-45941566	Bivalent/Poised TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
12	nsv913944	chr21:45757905-45941566	Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
13	nsv913946	chr21:45838632-46031810	Bivalent Enhancer ZNF genes & repeats Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
14	nsv913948	chr21:45860912-46031810	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
15	nsv1056424	chr21:45894901-46031810	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
16	nsv544475	chr21:45894901-46031810	Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
17	nsv1055163	chr21:45895663-46031810	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
18	nsv913949	chr21:45911950-45941566	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45916800-45951600	Weak transcription	Right Atrium	heart
2	chr21:45928200-45931800	Genic enhancers	HepG2	liver
3	chr21:45928400-45932000	Strong transcription	H9 Cell Line	embryonic stem cell
4	chr21:45928600-45931200	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr21:45929000-45931400	Enhancers	Pancreas	Pancrea
6	chr21:45929600-45931200	Enhancers	Gastric	stomach
7	chr21:45929600-45932000	Genic enhancers	Spleen	Spleen
8	chr21:45929800-45931200	Enhancers	Esophagus	oesophagus
9	chr21:45930000-45931000	Enhancers	Primary T killer memory cells from peripheral blood	blood
10	chr21:45930000-45931200	Enhancers	Primary B cells from peripheral blood	blood
11	chr21:45930200-45931000	Enhancers	Primary B cells from cord blood	blood
12	chr21:45930200-45931000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
13	chr21:45930200-45931000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr21:45930200-45931000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr21:45930200-45931000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr21:45930200-45931000	Flanking Active TSS	Duodenum Mucosa	Duodenum
17	chr21:45930200-45931000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
18	chr21:45930200-45931000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
19	chr21:45930200-45931000	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
20	chr21:45930200-45931200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr21:45930200-45931200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr21:45930200-45931200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr21:45930200-45931400	Enhancers	Placenta Amnion	Placenta Amnion
24	chr21:45930200-45931600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
25	chr21:45930400-45931000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
26	chr21:45930400-45931000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
27	chr21:45930400-45931000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
28	chr21:45930400-45931000	Flanking Active TSS	Liver	Liver
29	chr21:45930400-45931000	Flanking Active TSS	Colonic Mucosa	Colon
30	chr21:45930400-45931000	Bivalent Enhancer	Fetal Brain Male	brain
31	chr21:45930400-45931000	Flanking Active TSS	Fetal Intestine Small	intestine
32	chr21:45930400-45931000	Bivalent Enhancer	Fetal Stomach	stomach
33	chr21:45930400-45931000	Enhancers	Fetal Thymus	thymus
34	chr21:45930400-45931000	Enhancers	GM12878-XiMat	blood
35	chr21:45930400-45931200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr21:45930400-45931200	Bivalent Enhancer	Fetal Muscle Leg	muscle
37	chr21:45930400-45931200	Enhancers	Lung	lung
38	chr21:45930600-45931000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr21:45930600-45931000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr21:45930600-45931000	Active TSS	HUES48 Cell Line	embryonic stem cell
41	chr21:45930600-45931000	Active TSS	iPS-15b Cell Line	embryonic stem cell
42	chr21:45930600-45931000	Active TSS	iPS-20b Cell Line	embryonic stem cell
43	chr21:45930600-45931000	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr21:45930600-45931000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
45	chr21:45930600-45931000	Active TSS	Primary T cells from cord blood	blood
46	chr21:45930600-45931000	Flanking Active TSS	Primary hematopoietic stem cells	blood
47	chr21:45930600-45931000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
48	chr21:45930600-45931000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
49	chr21:45930600-45931000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
50	chr21:45930600-45931000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood

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