Variant report

Variant	rs552033319
Chromosome Location	chr21:45573424-45573425
allele	C/T
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:45573335..45575799-chr21:45659324..45661159,2	MCF-7	breast:
2	chr21:45551834..45580791-chr21:45711953..45732193,97	MCF-7	breast:
3	chr21:45572051..45574951-chr21:45759360..45761487,2	MCF-7	breast:
4	chr21:45571920..45573873-chr21:45586886..45589109,2	MCF-7	breast:
5	chr21:45573023..45575397-chr21:45576610..45579323,3	K562	blood:
6	chr21:45572891..45575841-chr21:45596465..45598354,2	MCF-7	breast:
7	chr21:45553420..45556020-chr21:45571814..45574166,3	MCF-7	breast:
8	chr21:45571851..45574845-chr21:45716576..45719950,3	MCF-7	breast:
9	chr21:45571719..45574629-chr21:45639760..45641612,2	MCF-7	breast:
10	chr21:45571309..45577111-chr21:45620650..45624145,5	MCF-7	breast:
11	chr21:45561894..45565955-chr21:45571282..45575871,6	MCF-7	breast:
12	chr21:45558413..45560351-chr21:45571798..45574177,2	MCF-7	breast:
13	chr21:45573267..45575463-chr21:45578748..45581310,2	MCF-7	breast:
14	chr21:45573193..45575716-chr21:45715248..45717300,2	K562	blood:
15	chr21:45571301..45575033-chr21:45652281..45654701,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000160223	Chromatin interaction
ENSG00000232124	Chromatin interaction
ENSG00000160221	Chromatin interaction
ENSG00000225331	Chromatin interaction
ENSG00000141959	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

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	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	nsv913887	chr21:45344799-45670770	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv1064420	chr21:45460089-45814986	Enhancers Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
4	nsv544472	chr21:45460089-45814986	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
5	nsv432155	chr21:45479055-45772388	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
6	nsv913890	chr21:45482950-45603746	Genic enhancers Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
7	nsv459294	chr21:45499171-45595060	Active TSS Flanking Active TSS Strong transcription Genic enhancers Enhancers Weak transcription 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	32 gene(s)	inside rSNPs	diseases
8	nsv587722	chr21:45499171-45595060	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
9	nsv913891	chr21:45508561-45588518	Strong transcription Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
10	nsv913892	chr21:45508561-45595060	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS 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	32 gene(s)	inside rSNPs	diseases
11	nsv913893	chr21:45508561-45603746	Flanking Active TSS Strong transcription Genic enhancers Active TSS Enhancers Weak transcription 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	32 gene(s)	inside rSNPs	diseases
12	nsv913894	chr21:45508561-45627976	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
13	nsv913895	chr21:45528919-45595060	Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer 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 target site	31 gene(s)	inside rSNPs	diseases
14	nsv913896	chr21:45528919-45603746	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' 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
15	nsv913897	chr21:45528919-45640139	Strong transcription Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
16	esv1825445	chr21:45535566-45754936	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
17	esv1817474	chr21:45540607-45773102	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
18	nsv533679	chr21:45551026-45768578	Enhancers Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
19	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
20	nsv428042	chr21:45560437-45848190	Enhancers Active TSS Genic enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
21	nsv1065479	chr21:45571324-45617878	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
22	esv3362646	chr21:45573322-45573434	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45561000-45584400	Weak transcription	Aorta	Aorta
2	chr21:45561200-45574200	Weak transcription	Fetal Brain Female	brain
3	chr21:45563800-45574800	Weak transcription	NHLF	lung
4	chr21:45565400-45580600	Weak transcription	Brain Germinal Matrix	brain
5	chr21:45566400-45575000	Weak transcription	Rectal Smooth Muscle	rectum
6	chr21:45568000-45573600	Weak transcription	Brain Anterior Caudate	brain
7	chr21:45570600-45577400	Enhancers	Primary B cells from cord blood	blood
8	chr21:45571000-45575400	Enhancers	Primary B cells from peripheral blood	blood
9	chr21:45571000-45582600	Weak transcription	Ovary	ovary
10	chr21:45572200-45573600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr21:45572200-45574200	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr21:45572200-45575000	Enhancers	Primary T killer memory cells from peripheral blood	blood
13	chr21:45572400-45575000	Enhancers	Primary T cells from cord blood	blood
14	chr21:45572400-45577400	Enhancers	Fetal Thymus	thymus
15	chr21:45572800-45573600	Enhancers	Primary neutrophils fromperipheralblood	blood
16	chr21:45572800-45573600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr21:45572800-45573800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr21:45572800-45574200	Flanking Active TSS	GM12878-XiMat	blood
19	chr21:45572800-45575600	Enhancers	Duodenum Smooth Muscle	Duodenum
20	chr21:45572800-45577400	Enhancers	Primary hematopoietic stem cells	blood
21	chr21:45573000-45573600	Enhancers	H1 Cell Line	embryonic stem cell
22	chr21:45573000-45573600	Enhancers	H9 Cell Line	embryonic stem cell
23	chr21:45573000-45573600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr21:45573000-45573600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr21:45573000-45573600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
26	chr21:45573000-45573600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr21:45573000-45573600	Enhancers	Fetal Intestine Large	intestine
28	chr21:45573000-45573600	Enhancers	Placenta	Placenta
29	chr21:45573000-45573600	Enhancers	Gastric	stomach
30	chr21:45573000-45573600	Enhancers	Placenta Amnion	Placenta Amnion
31	chr21:45573000-45573800	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr21:45573000-45573800	Enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr21:45573000-45573800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
34	chr21:45573000-45573800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
35	chr21:45573000-45573800	Enhancers	Fetal Lung	lung
36	chr21:45573000-45573800	Flanking Active TSS	Hela-S3	cervix
37	chr21:45573000-45574000	Enhancers	Fetal Intestine Small	intestine
38	chr21:45573000-45574000	Enhancers	Small Intestine	intestine
39	chr21:45573000-45574200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
40	chr21:45573000-45574200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr21:45573000-45574200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr21:45573000-45574400	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr21:45573000-45574600	Enhancers	Pancreas	Pancrea
44	chr21:45573000-45575000	Enhancers	Brain Cingulate Gyrus	brain
45	chr21:45573000-45575000	Flanking Active TSS	NHEK	skin
46	chr21:45573000-45575200	Enhancers	Fetal Muscle Trunk	muscle
47	chr21:45573000-45575200	Enhancers	Fetal Muscle Leg	muscle
48	chr21:45573000-45575400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
49	chr21:45573000-45575400	Enhancers	Thymus	Thymus
50	chr21:45573000-45575400	Enhancers	K562	blood

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