Variant report

Variant	rs546757952
Chromosome Location	chr21:45431325-45431326
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:21)
CpG islands
(count:0)
Chromatin interactive
region (count:27)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:21 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr21:45431302-45432663	A549	lung:	n/a	n/a
2	MXI1	chr21:45430881-45434044	SK-N-SH	brain:	n/a	n/a
3	POLR2A	chr21:45430760-45432324	SK-N-SH	brain:	n/a	n/a
4	POLR2A	chr21:45430877-45432819	IMR90	lung:	n/a	n/a
5	HCFC1	chr21:45430618-45433737	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr21:45430478-45432643	K562	blood:	n/a	n/a
7	MAZ	chr21:45430829-45433361	IMR90	lung:	n/a	n/a
8	POLR2A	chr21:45431246-45433532	H1-hESC	embryonic stem cell:	n/a	n/a
9	EP300	chr21:45431127-45431344	K562	blood:	n/a	n/a
10	POLR2A	chr21:45430527-45432712	PFSK-1	brain:	n/a	n/a
11	POLR2A	chr21:45431055-45432839	PFSK-1	brain:	n/a	n/a
12	POLR2A	chr21:45431224-45433182	K562	blood:	n/a	n/a
13	MXI1	chr21:45431325-45433527	IMR90	lung:	n/a	n/a
14	POLR2A	chr21:45431059-45433184	K562	blood:	n/a	n/a
15	POLR2A	chr21:45430355-45433156	K562	blood:	n/a	n/a
16	POLR2A	chr21:45430972-45432693	K562	blood:	n/a	n/a
17	POLR2A	chr21:45430687-45433012	MCF10A-Er-Src	breast:	n/a	n/a
18	POLR2A	chr21:45430299-45433083	K562	blood:	n/a	n/a
19	POLR2A	chr21:45429844-45432314	SK-N-MC	brain:	n/a	n/a
20	POLR2A	chr21:45429882-45433617	K562	blood:	n/a	n/a
21	REST	chr21:45431253-45432956	H1-neurons	neurons:	n/a	chr21:45431915-45431928

No data

(count:27 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:45216557..45218790-chr21:45430964..45433314,2	K562	blood:
2	chr21:45282600..45286741-chr21:45429139..45433009,5	MCF-7	breast:
3	chr21:45407342..45409027-chr21:45430207..45431871,2	MCF-7	breast:
4	chr21:45430220..45433985-chr21:45525454..45528690,3	MCF-7	breast:
5	chr21:45328589..45330821-chr21:45430342..45432197,2	K562	blood:
6	chr21:45430262..45433765-chr21:45524105..45528370,12	MCF-7	breast:
7	chr21:45138839..45140766-chr21:45430959..45433329,2	MCF-7	breast:
8	chr21:45187143..45189107-chr21:45429990..45432008,2	K562	blood:
9	chr21:45367943..45370581-chr21:45429600..45432583,3	K562	blood:
10	chr21:45416695..45418869-chr21:45430273..45432028,2	K562	blood:
11	chr21:45429269..45431828-chr21:45486431..45488648,2	MCF-7	breast:
12	chr21:45340959..45342900-chr21:45429415..45431633,2	K562	blood:
13	chr21:45282965..45285916-chr21:45430237..45433854,8	MCF-7	breast:
14	chr21:45430507..45434109-chr21:45525660..45529122,6	K562	blood:
15	chr21:45411686..45414596-chr21:45429639..45431651,4	K562	blood:
16	chr21:45207339..45211369-chr21:45429720..45433341,4	K562	blood:
17	chr21:45194435..45196529-chr21:45430535..45433342,2	MCF-7	breast:
18	chr21:45431322..45434131-chr21:45718820..45721746,2	K562	blood:
19	chr21:45378072..45381016-chr21:45430291..45432652,2	K562	blood:
20	chr21:45390463..45393290-chr21:45430971..45433661,3	MCF-7	breast:
21	chr21:45229749..45232080-chr21:45430603..45432486,2	K562	blood:
22	chr21:45429046..45431899-chr21:45510493..45513576,3	K562	blood:
23	chr21:45399246..45402021-chr21:45429324..45431485,3	MCF-7	breast:
24	chr21:45429712..45433999-chr21:45522896..45529122,10	K562	blood:
25	chr21:45416541..45418869-chr21:45429410..45432028,3	K562	blood:
26	chr21:45283737..45286588-chr21:45430466..45433524,3	K562	blood:
27	chr21:45366033..45367987-chr21:45430998..45433821,2	MCF-7	breast:

No data

Variant related genes	Relation type
TRAPPC10	TF binding region
ENSG00000241945	Chromatin interaction
ENSG00000160216	Chromatin interaction
ENSG00000215458	Chromatin interaction
ENSG00000160213	Chromatin interaction
ENSG00000141959	Chromatin interaction
ENSG00000160214	Chromatin interaction
ENSG00000160209	Chromatin interaction
ENSG00000160218	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 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	nsv1063752	chr21:45406095-45460342	Flanking Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv459293	chr21:45415913-45555079	Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers 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	39 gene(s)	inside rSNPs	diseases
5	nsv587721	chr21:45415913-45555079	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
6	esv3360464	chr21:45431274-45433672	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45426400-45431600	Weak transcription	Lung	lung
2	chr21:45429200-45431400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr21:45429200-45431400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr21:45429800-45433800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr21:45430000-45431400	Flanking Active TSS	HepG2	liver
6	chr21:45430200-45431400	Enhancers	Placenta Amnion	Placenta Amnion
7	chr21:45430400-45431400	Enhancers	Right Ventricle	heart
8	chr21:45430600-45431400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
9	chr21:45430600-45431400	Enhancers	Primary T cells fromperipheralblood	blood
10	chr21:45430600-45431400	Enhancers	Placenta	Placenta
11	chr21:45430800-45431400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr21:45430800-45431400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
13	chr21:45430800-45431400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr21:45430800-45431400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr21:45430800-45431400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr21:45430800-45431400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr21:45430800-45431400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr21:45430800-45431400	Flanking Active TSS	Dnd41	blood
19	chr21:45430800-45431600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr21:45430800-45431800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr21:45431000-45431400	Flanking Active TSS	H1 Cell Line	embryonic stem cell
22	chr21:45431000-45431400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr21:45431000-45431400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr21:45431000-45431400	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr21:45431000-45431400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
26	chr21:45431000-45431400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
27	chr21:45431000-45431400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr21:45431000-45431400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr21:45431000-45431400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr21:45431000-45431400	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr21:45431000-45431400	Enhancers	Primary B cells from peripheral blood	blood
32	chr21:45431000-45431400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr21:45431000-45431400	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr21:45431000-45431400	Enhancers	Brain Angular Gyrus	brain
35	chr21:45431000-45431400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
36	chr21:45431000-45431400	Enhancers	Brain Substantia Nigra	brain
37	chr21:45431000-45431400	Enhancers	Duodenum Mucosa	Duodenum
38	chr21:45431000-45431400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
39	chr21:45431000-45431400	Flanking Active TSS	Fetal Brain Female	brain
40	chr21:45431000-45431400	Enhancers	Fetal Thymus	thymus
41	chr21:45431000-45431400	Enhancers	Rectal Mucosa Donor 31	rectum
42	chr21:45431000-45431400	Enhancers	Sigmoid Colon	Sigmoid Colon
43	chr21:45431000-45431400	Flanking Active TSS	Thymus	Thymus
44	chr21:45431000-45431400	Flanking Active TSS	GM12878-XiMat	blood
45	chr21:45431000-45431400	Flanking Active TSS	Hela-S3	cervix
46	chr21:45431000-45431400	Flanking Active TSS	HSMM	muscle
47	chr21:45431000-45431400	Flanking Active TSS	K562	blood
48	chr21:45431000-45431600	Enhancers	Primary T cells from cord blood	blood
49	chr21:45431000-45431600	Enhancers	Primary T helper naive cells from peripheral blood	blood
50	chr21:45431000-45431600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--

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